BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,an...BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.展开更多
Maize is an important source of calories and protein in human lives in many countries of the world and is the main staple food in Africa, particularly in eastern Africa. In the Sudan, the low yield of maize was mainly...Maize is an important source of calories and protein in human lives in many countries of the world and is the main staple food in Africa, particularly in eastern Africa. In the Sudan, the low yield of maize was mainly due to the use of low yielding landraces. It is necessary to carry out breeding programs that deal with the production of high yielding, adaptable new varieties. Therefore, this study aimed to estimate genetic variability, heritability, genotypic performance and interrelationships among the traits. Ten maize genotypes evaluated at White Nile Research Station Farm, Kosti, of the Agricultural Research Corporation (ARC), Wad Medani Sudan were planted in a randomized complete block design with three replications during the two seasons of 2021 and 2022. Most evaluated genotypes exhibited a wide and significant variation in the 11 measured traits. Genotypic coefficient of variation and genetic advance were recorded for days to 50% tasseling, ear diameter (cm), number of grains per row and grain yield (t/ha) in both seasons. High heritability and genetic advance were recorded for grain yield, ear length, ear height, plant height, number of rows per ear, ear weight, days to 50% tasseling, 100-grain weight and days to 50% silking. Moreover, there was a highly significant and positive correlation of grain yield with number of rows per ear (r = 0.479), ear length (r = 0.381), 100-grain weight (r = 0.344) and days to 50% tasseling (r = 0.214). The highest yielding five genotypes across the seasons were TZCOM1/ZDPSYN (4.2 t/ha), EEPVAH-3 (4.2 t/ha), F2TWLY131228 (4.1 t/ha), PVA SYN6F2 (3.9 t/ha) and EEPVAH-9 (3.8 t/ha) these were needed to check the adaptability, stability and to test major maize growing areas to make sound recommendations for release.展开更多
This study evaluated the molecular characterization of different ecotypes of B. aegyptiaca populations in the four sites: Koily alpha, Labgar, Ranérou and Ballou according to the environment with the aim of devel...This study evaluated the molecular characterization of different ecotypes of B. aegyptiaca populations in the four sites: Koily alpha, Labgar, Ranérou and Ballou according to the environment with the aim of developing protection strategies. We sampled leaves of B. aegyptiaca in each individual from each site to extract and amplify a fragment of mitochondrial DNA including cytochrome b and then carefully preserved. DNA extraction, polymerase chain amplification and sequencing of MT-CYB were performed in 64 individuals. Genetic diversity and structure of B. aegyptiaca were determined using the MEGA, DNasp and Arlequin software. The results showed a high haplotype diversity and low nucleotide diversity, indicating a population expansion linked to an important gene flow. Genetic distances between populations were positively correlated with geographic distance. The importance of having highlighted this genetic differentiation of the B. aegyptiaca species between these sites is to be able to understand the degree of genetic heterogeneity of each and correlate it with adaptability because genetic diversity influences the adaptation of the species.展开更多
Introduction: Influenza A (Flu A) and B (Flu B) viruses are responsible for severe acute respiratory infections (SARI) worldwide, with a morbidity of 5 million and mortality of 29,000 - 650,000 deaths per year. Influe...Introduction: Influenza A (Flu A) and B (Flu B) viruses are responsible for severe acute respiratory infections (SARI) worldwide, with a morbidity of 5 million and mortality of 29,000 - 650,000 deaths per year. Influenza B viruses are an important cause of respiratory infections in humans, but they tend to be underappreciated due to the predominance of Influenza A. No molecular study on Influenza B has been carried out in the DRC. This study was conducted to document the molecular evolution of the hemagglutinin (HA) gene in the circulating Influenza B strains over the eight consecutive epidemic seasons (from 2015 to 2022). Methods: Samples were collected from outpatient cases suspected of influenza-like illness (ILI) and in all hospitalized patients with SARI from January 2015 to December 2022. Molecular analysis was done to determine influenza type and subtype, and then segments encoding the HA gene of Influenza B viruses were performed. Results: Of 8497 samples collected and tested, 639 (7.5%) were positive for influenza viruses, including 389 (60.8%) for Influenza A viruses and 248 (38,8%) for Influenza B viruses. Of the positive Influenza B samples, 91 were sequenced, including 26 belonging to the B/Yamagata lineage and 65 to the B/Victoria lineage. The HA gene of Influenza B viruses circulating in the DRC showed deletions in the HA1 region. Molecular analysis of Influenza B viruses reflects the genetic diversity of Influenza B/Yam virus clades (Y2, Y3, Y3V1A) alternating with Influenza B/Victoria virus clades (V1A, V1A.3) depending on the year and influenza seasons. The phylogenetic analysis of these Influenza B strains shows compatibility with the corresponding vaccine strains that the WHO had validated for each influenza season. Conclusion: This study underscores the importance of continuous molecular surveillance of Influenza B viruses in the DRC to understand their epidemiology and evolutionary dynamics. Identifying mutations, such as HA deletions, is critical for assessing their impact on transmissibility vaccine efficacy and guiding effective vaccination and control strategies.展开更多
Varietal deficiencies of upland rice lead to a low paddy grain yield. The aim of this study was to mutagenesis upland rice varieties to improve their agronomic performance. Seeds of varieties FKR45N and FKR47N were th...Varietal deficiencies of upland rice lead to a low paddy grain yield. The aim of this study was to mutagenesis upland rice varieties to improve their agronomic performance. Seeds of varieties FKR45N and FKR47N were therefore irradiated with doses 300, 350 and 400 Gy. The irradiated seeds were sown and the panicles of the M1 plants were individually harvested, and then were advanced to M4 using the “one panicle - one progeny” method. The agronomic performance of M4 lines was compared to that of their parent. The gamma ray mutagenesis has induced significant variability in five yield components, i.e., plant height, main panicle length, total numbers of tillers and productive tillers and paddy grain yield between mutant lines. The highest variabilities were shown for the total number of tillers and the number of productive tillers as well as FKR45N (CV% = 40 % and 36%) and FKR47N (CV% = 31% and 30%) mutant lines. Principal component analysis led to rank the mutant lines from each variety in three clusters. The Pearson correlation showed that the paddy grain yield was significantly and positively correlated with the number of productive tillers (r = 0.61) and plant height (r = 0.66) for FKR47N mutant lines, and these correlation coefficients were r = 0.52 and r = 0.51 for FKR45N mutant lines, respectively. Gamma-ray irradiation also induced an earliness of 50% flowering of 62 days after sowing (DAS) in two FKR45N mutant lines and 67 DAS in one of KR47N mutant lines. The paddy grain yield was improved by 120% and 20% in two FKR45N and FKR47N mutant lines, respectively. A dwarf FKR45N mutant line with an early flowering of 67 DAS and a paddy grain yield (2.34 t ha−1) was generated. These results suggested that any positive increase in the six quantitative traits will increase the paddy grain yield.展开更多
Smallholder farming in West Africa faces various challenges, such as limited access to seeds, fertilizers, modern mechanization, and agricultural climate services. Crop productivity obtained under these conditions var...Smallholder farming in West Africa faces various challenges, such as limited access to seeds, fertilizers, modern mechanization, and agricultural climate services. Crop productivity obtained under these conditions varies significantly from one farmer to another, making it challenging to accurately estimate crop production through crop models. This limitation has implications for the reliability of using crop models as agricultural decision-making support tools. To support decision making in agriculture, an approach combining a genetic algorithm (GA) with the crop model AquaCrop is proposed for a location-specific calibration of maize cropping. In this approach, AquaCrop is used to simulate maize crop yield while the GA is used to derive optimal parameters set at grid cell resolution from various combinations of cultivar parameters and crop management in the process of crop and management options calibration. Statistics on pairwise simulated and observed yields indicate that the coefficient of determination varies from 0.20 to 0.65, with a yield deviation ranging from 8% to 36% across Burkina Faso (BF). An analysis of the optimal parameter sets shows that regardless of the climatic zone, a base temperature of 10˚C and an upper temperature of 32˚C is observed in at least 50% of grid cells. The growing season length and the harvest index vary significantly across BF, with the highest values found in the Soudanian zone and the lowest values in the Sahelian zone. Regarding management strategies, the fertility mean rate is approximately 35%, 39%, and 49% for the Sahelian, Soudano-sahelian, and Soudanian zones, respectively. The mean weed cover is around 36%, with the Sahelian and Soudano-sahelian zones showing the highest variability. The proposed approach can be an alternative to the conventional one-size-fits-all approach commonly used for regional crop modeling. Moreover, it has the potential to explore the performance of cropping strategies to adapt to changing climate conditions.展开更多
Duchenne muscular dystrophy (DMD) is a hereditary, progressive muscular disorder inherited in an X-linked recessive pattern (Xp21). It typically manifests in childhood and follows a severe, rapid progression. Only mal...Duchenne muscular dystrophy (DMD) is a hereditary, progressive muscular disorder inherited in an X-linked recessive pattern (Xp21). It typically manifests in childhood and follows a severe, rapid progression. Only males are affected, while females are usually carriers. Given the genetic nature of DMD, genetic counseling is an essential service for individuals affected by or at risk of carrying the disease. This service provides not only crucial medical information but also psychosocial support and ongoing management for both patients and their families. Since the discovery of the dystrophin gene in 1987, advancements in molecular genetics have made it possible to precisely identify the genes responsible for many neuromuscular diseases. These developments have revolutionized diagnosis, prognosis, and most importantly, genetic counseling, offering significant benefits for both patients and their families. To highlight the significance of these advancements, this case report focuses on a 10-year-old boy (Y) diagnosed with DMD. It emphasizes the familial nature of the disease, with Y’s two brothers, three cousins, and two maternal uncles also affected, underscoring the inherited pattern of DMD. This reinforces the critical need for early intervention, particularly in regions with high consanguinity, such as North Africa and the Middle East, where genetic counseling and prenatal diagnosis are even more essential. Additionally, the report explores the clinical presentation, diagnostic findings, and promising emerging treatments, including RNA-based therapies, which may play a key role in the future management of DMD. In light of the above, this study underscores the importance of prenatal diagnosis and genetic counseling, particularly in regions like Morocco, where consanguinity rates are notably high. By focusing on preconception care and early genetic intervention, families can be better informed, leading to more effective disease management and support.展开更多
Objective: Hereditary breast and ovarian cancer syndrome (HBOC) increases the risk of developing breast, ovarian, prostate, and pancreatic cancers. With the insurance coverage for BRCA genetic testing, the number of i...Objective: Hereditary breast and ovarian cancer syndrome (HBOC) increases the risk of developing breast, ovarian, prostate, and pancreatic cancers. With the insurance coverage for BRCA genetic testing, the number of individuals diagnosed with HBOC has increased. To use these test results effectively, cascade genetic testing (CGT) is recommended for at-risk relatives;however, it is not yet widely available. The purpose of this study was to investigate the willingness of the general population to share genetic test results and undergo CGT, as well as to analyze the factors influencing these decisions. Based on these findings, the study aimed to identify the types of support needed to support the sharing of genetic test results and promote the use of CGT. Methods: An online survey was conducted with 500 participants (50 men and women from each of the five generations, ranging from 20 to 69 years). Results: Among the HBOC blood relatives, 51.2% wanted to share the genetic results and 71.9% expressed a willingness to undergo CGT. “Matters to be shared with relatives” and “Helpful for my cancer prevention” were identified as key factors promoting the willingness to share the BRCA genetic test results and undergo CGT. The motivation for “Helpful for my cancer prevention” had a particularly strong influence on the decision to undergo CGT. Conclusion: In the general population, there is an emerging understanding that the genetic information impacts not only the individuals but also their entire families and can be valuable for cancer prevention. To promote the sharing of BRCA genetic test results and CGT uptake, the healthcare providers should offer support tailored to each family’s circumstances and establish cancer prevention measures recommended for HBOC.展开更多
This paper presents an optimized strategy for multiple integrations of photovoltaic distributed generation (PV-DG) within radial distribution power systems. The proposed methodology focuses on identifying the optimal ...This paper presents an optimized strategy for multiple integrations of photovoltaic distributed generation (PV-DG) within radial distribution power systems. The proposed methodology focuses on identifying the optimal allocation and sizing of multiple PV-DG units to minimize power losses using a probabilistic PV model and time-series power flow analysis. Addressing the uncertainties in PV output due to weather variability and diurnal cycles is critical. A probabilistic assessment offers a more robust analysis of DG integration’s impact on the grid, potentially leading to more reliable system planning. The presented approach employs a genetic algorithm (GA) and a determined PV output profile and probabilistic PV generation profile based on experimental measurements for one year of solar radiation in Cairo, Egypt. The proposed algorithms are validated using a co-simulation framework that integrates MATLAB and OpenDSS, enabling analysis on a 33-bus test system. This framework can act as a guideline for creating other co-simulation algorithms to enhance computing platforms for contemporary modern distribution systems within smart grids concept. The paper presents comparisons with previous research studies and various interesting findings such as the considered hours for developing the probabilistic model presents different results.展开更多
This paper introduces an optimized planning approach for integrating photovoltaic as distributed generation (PV-DG) into the radial distribution power systems, utilizing exhaustive load flow (ELF), loss sensitivity fa...This paper introduces an optimized planning approach for integrating photovoltaic as distributed generation (PV-DG) into the radial distribution power systems, utilizing exhaustive load flow (ELF), loss sensitivity factor (LSF), genetic algorithms (GA) methods, and numerical method based on LSF. The methodology aims to determine the optimal allocation and sizing of multiple PV-DG to minimize power loss through time series power flow analysis. An approach utilizing continuous sensitivity analysis is developed and inherently leverages power flow and loss equations to compute LSF of all buses in the system towards employing a dynamic PV-DG model for more accurate results. The algorithm uses a numerical grid search method to optimize PV-DG placement in a power distribution system, focusing on minimizing system losses. It combines iterative analysis, sensitivity assessment, and comprehensive visualization to identify and present the optimal PV-DG configurations. The present-ed algorithms are verified through co-simulation framework combining MATLAB and OpenDSS to carry out analysis for 12-bus radial distribution test system. The proposed numerical method is compared with other algorithms, such as ELF, LSF methods, and Genetic Algorithms (GA). Results show that the proposed numerical method performs well in comparison with LSF and ELF solutions.展开更多
Photosynthesis is one the most important chemical reaction in plants,and it is the ultimate energy source of any living organisms.The light and dark reactions are two essential phases of photosynthesis.Light reaction ...Photosynthesis is one the most important chemical reaction in plants,and it is the ultimate energy source of any living organisms.The light and dark reactions are two essential phases of photosynthesis.Light reaction harvests light energy to synthesize ATP and NADPH through an electron transport chain,and as well as giving out O_(2);dark reaction fixes CO_(2) into six carbon sugars by utilizing NADPH and energy from ATP.Subsequently,plants convert optical energy into chemical energy for maintaining growth and development through absorbing light energy.Here,firstly,we highlighted the biological importance of photosynthesis,and hormones and metabolites,photosynthetic and regulating enzymes,and signaling components that collectively regulate photosynthesis in tomato.Next,we reviewed the advances in tomato photosynthesis,including two aspects of genetic basis and genetic improvement.Numerous genes regulating tomato photosynthesis are gradually uncovered,and the interaction network among those genes remains to be constructed.Finally,the photosynthesis occurring in fruit of tomato and the relationship between photosynthesis in leaf and fruit were discussed.Leaves and fruits are photosynthate sources and sinks of tomato respectively,and interaction between photosynthesis in leaf and fruit exists.Additionally,future perspectives that needs to be addressed on tomato photosynthesis were proposed.展开更多
Microperforated panels(MPP)are widely used in noise control applications due to their excellent sound absorption performance.However,traditional single-layer MPPs suffer from a narrow sound absorption bandwidth,making...Microperforated panels(MPP)are widely used in noise control applications due to their excellent sound absorption performance.However,traditional single-layer MPPs suffer from a narrow sound absorption bandwidth,making it difficult to meet the demands for broadband sound absorption.To address this limitation,this study proposes a design approach for double-layer MPPs optimized using a genetic algorithm(GA).By optimizing structural parameters such as perforation diameter,panel thickness,perforation ratio,and cavity depth,the sound absorption performance of the double-layer MPP is significantly enhanced.The results demonstrate that the optimized double-layer MPP achieves an average sound absorption coefficient of 0.71 across the 100-5000 Hz frequency range,with a peak absorption coefficient exceeding 0.8 at 500 Hz,outperforming conventional sound-absorbing products of the same category.展开更多
The KCNQ family of genes(KCNQ1–KCNQ5),encoding voltage-gated K+(Kv)channels,have been demonstrated to play potential pathophysiological roles in cancers.However,the associations between genetic variants located in KC...The KCNQ family of genes(KCNQ1–KCNQ5),encoding voltage-gated K+(Kv)channels,have been demonstrated to play potential pathophysiological roles in cancers.However,the associations between genetic variants located in KCNQ family genes and gastric cancer survival remain unclear.In this study,a large-scale cohort comprising 1135 Chinese gastric cancer patients was enrolled to identify genetic variants in KCNQ family genes associated with overall survival(OS).Based on the survival evaluation of all five KCNQ family genes,KCNQ1 was selected for subsequent genetic analysis.In both Cox regression model and stepwise Cox regression model used to evaluate survival-related genetic variants,we found that KCNQ1 rs10832417G>T was associated with an increased OS in gastric cancer patients(adjusted hazards ratio[HR]=0.84,95%confidence interval[CI]:0.72–0.98,P=0.023).Subsequently,a nomogram was constructed to enhance the prognostic capacity and clinical translation of rs10832417 variants.The rs10832417 T allele was predicted to increase the minimum free energy of the secondary structure.Furthermore,we observed that gastric cancer patients with downregulated KCNQ1expression had a poorer survival across multiple public datasets.The findings of the present study indicate that KCNQ1 rs10832417 may serve as an independent prognostic predictor of gastric cancer,providing novel insights into the progression and survival of the disease.展开更多
Pediatric inflammatory bowel disease(IBD)is a chronic and heterogeneous disease.IBD is commonly classified into Crohn’s disease and ulcerative colitis.It is linked to serious symptoms and complications.The onset of I...Pediatric inflammatory bowel disease(IBD)is a chronic and heterogeneous disease.IBD is commonly classified into Crohn’s disease and ulcerative colitis.It is linked to serious symptoms and complications.The onset of IBD commonly occurs during adolescence.Despite the significant number of cases globally(~5 million),the causes of pediatric IBD,which constitutes 25%of IBD patients,are not yet fully understood.Apart from environmental factors,genetic factors contribute to a higher risk of developing IBD.The predisposition risk of IBD can be investigated using genetic testing.Genetic mechanisms of pediatric IBD are highly complex which resulted in difficulty in selecting effective treatment or patient management.Genetic variation of IBD would serve as a basis for precision medicine and allow for the discovery of more robust treatment avenues for this condition in pediatric patients.This review aims to discuss the genetics of pediatric IBD,and current development in the screening,diagnosis,and treatment based on genetic profiling of pediatric IBD subjects toward more personalized management of this disease.展开更多
Microsatellite markers with polymorphic advantages are widely used in the exploration and utilization of marine fishery resources.In this study,16 polymorphic microsatellite markers were used to evaluate the diversity...Microsatellite markers with polymorphic advantages are widely used in the exploration and utilization of marine fishery resources.In this study,16 polymorphic microsatellite markers were used to evaluate the diversity and population structure of Setipinna tenuifilis,a nearshore fish of economic and ecological value in the western Pacific Ocean and Indian Ocean.The genetic diversity of S.tenuifilis showed a high level[mean Na(number of alleles)is 23.25,mean Ho(observed heterozygosity)is 0.639,mean R_(a)(allelic richness)is 11.625,and the polymorphic information content(PIC)is 0.844]similar to other Clupeiformes fish species.The nine wild S.tenuifilis populations showed significant differentiation(F_(ST)ranging from 0.00384 to 0.19346)and were generally divided into southern and northern populations based on genetic structure,except for the Zhoushan population,which exhibited genetic mixture.Our results provide fundamental but significant genetic insights for the management and conservation of S.tenuifilis fishery resources.展开更多
Objective To study the key technologies in the field of ginsenosides and to offer a guide for the future development ginsenosides through the main path identification method based on genetic knowledge persistence algo...Objective To study the key technologies in the field of ginsenosides and to offer a guide for the future development ginsenosides through the main path identification method based on genetic knowledge persistence algorithm(GKPA).Methods The global ginsenoside invention authorized patents were used as the data source to construct a ginsenoside patent self-citation network,and to identify high knowledge persistent patents(HKPP)of ginsenoside technology based on the GKPA,and extract its high knowledge persistence main path(HKPMP).Finally,the genetic forward and backward path(GFBP)was used to search the nodes on the main path,and draw the genetic forward and backward main path(GFBMP)of ginsenoside technology.Results and Conclusion The algorithm was applied to the field of ginsenosides.The research results show the milestone patents in ginsenosides technology and the main evolution process of three key technologies,which points out the future direction for the technological development of ginsenosides.The results obtained by this algorithm are more interpretable,comprehensive and scientific.展开更多
Background:Over the past few decades,a threefold increase in obesity and type 2 diabetes(T2D)has placed a heavy burden on the health-care system and society.Previous studies have shown correlations between obesity,T2D...Background:Over the past few decades,a threefold increase in obesity and type 2 diabetes(T2D)has placed a heavy burden on the health-care system and society.Previous studies have shown correlations between obesity,T2D,and neurodegenera-tive diseases,including dementia.It is imperative to further understand the relation-ship between obesity,T2D,and cognitive deficits.Methods:This investigation tested and evaluated the cognitive impact of obesity and T2D induced by high-fat diet(HFD)and the effect of the host genetic background on the severity of cognitive decline caused by obesity and T2D in collaborative cross(CC)mice.The CC mice are a genetically diverse panel derived from eight inbred strains.Results:Our findings demonstrated significant variations in the recorded phenotypes across different CC lines compared to the reference mouse line,C57BL/6J.CC037 line exhibited a substantial increase in body weight on HFD,whereas line CC005 ex-hibited differing responses based on sex.Glucose tolerance tests revealed significant variations,with some lines like CC005 showing a marked increase in area under the curve(AUC)values on HFD.Organ weights,including brain,spleen,liver,and kidney,varied significantly among the lines and sexes in response to HFD.Behavioral tests using the Morris water maze indicated that cognitive performance was differentially affected by diet and genetic background.Conclusions:Our study establishes a foundation for future quantitative trait loci map-ping using CC lines and identifying genes underlying the comorbidity of Alzheimer's disease(AD),caused by obesity and T2D.The genetic components may offer new tools for early prediction and prevention.展开更多
Pyrola atropurpurea Franch is an important annual herbaceous plant.Few genomic analyses have been conducted on this plant,and chloroplast genome research will enrich its genomics basis.This study is based on high-thro...Pyrola atropurpurea Franch is an important annual herbaceous plant.Few genomic analyses have been conducted on this plant,and chloroplast genome research will enrich its genomics basis.This study is based on high-throughput sequencing technology and Bioinformatics methods to obtain the sequence,structure,and other characteristics of the P.atropurpurea chloroplast genome.The result showed that the chloroplast genome of P.atropurpurea has a double-stranded circular structure with a total length of 172,535 bp and a typical four-segment structure.The genome has annotated a total of 132 functional genes,including 43 tRNAs,8 rRNAs,76 protein-coding genes,and 5 pseudo-genes.In total,358 SSR loci were checked out,mainly composed of mononucleotide and trinucleotide repeat.There are three types of scattered repetitive sequences,totaling 4223,including 2452 forward repeats,1763 palindrome repeats,and eight reverse repeats.The optimal codon usage frequency is relatively high with AT usage preference in this genome.Chloroplast genome comparative analysis in the family Ericaceae shows that the overall sequence is more complex,and there are more variations in the gene interval region.The collinearity analysis indicated that there is a complex rearrangement of species between different genera in Ericaceae.The selection pressure analysis showed that the protein-encoding genes rpl33 and rps16 were positively selected among the seven medicinal plants in Ericaceae.The maximum likelihood tree shows that the genetic relationship among P.atropurpurea,Pyrola rotundifolia,and Chimaphila japonica is relatively close.Therefore,an important data basis was provided for species identification,genetic diversity,and phylogenetic studies of P.atropurpurea and even this genus of plants.展开更多
BACKGROUND Birt-Hogg-Dubé(BHD)syndrome is a rare genetic disorder associated with mutations in the BHD gene,which can manifest symptoms at any age,including dermatological and pulmonary complications,as well as r...BACKGROUND Birt-Hogg-Dubé(BHD)syndrome is a rare genetic disorder associated with mutations in the BHD gene,which can manifest symptoms at any age,including dermatological and pulmonary complications,as well as renal tumors.This study presents a case of a BHD patient who experienced spontaneous pneumothorax,aiming to enhance the understanding of this syndrome.CASE SUMMARY A 42-year-old female patient presented with left-sided chest pain and tightness lasting three days.Chest computed tomography scans revealed left-sided pneumothorax and multiple pulmonary bullae.Physical examination indicated decreased vocal fremitus and tympanic percussion on the left side.A thorough family history revealed a pattern of pulmonary disorders,including emphysema,spontaneous pneumothorax,and lung cancer among relatives.Genetic testing identified a heterozygous frameshift mutation in the FLCN gene at the 17p11.2 locus.Based on the clinical presentation,imaging findings,family history,and genetic results,the patient was suspected to have BHD syndrome.CONCLUSION We present a case of a heterozygous mutation in the FLCN gene in a patient with BHD syndrome,aiming to review the associated clinical characteristics and genetic mechanisms of this condition.This case serves as a reference point to offer insights into the diagnosis of multiple pulmonary cysts and spontaneous pneumo-thorax of unknown etiology in clinical practice.展开更多
Paeonia suffruticosa Andr.is an endemic shrub flower in China with 2n=10.This study used 228 cultivars from four populations,i.e.,Jiangnan,Japan,Northwest,and Zhongyuan,as materials to explore the genetic diversity le...Paeonia suffruticosa Andr.is an endemic shrub flower in China with 2n=10.This study used 228 cultivars from four populations,i.e.,Jiangnan,Japan,Northwest,and Zhongyuan,as materials to explore the genetic diversity levels among different populations of tree peony varieties.The results showed that 34 bands were amplified using five pairs of cp SSR primers,with an average of 6.8 bands per primer pair.The average number of different alleles(N_(a)),effective alleles(N_(e)),Shannon's information index(I),diversity(H),and polymorphic information content(PIC)were 3.600,2.053,0.708,0.433,and 0.388,respectively.The PIC value was between 0.250 and 0.500,indicating a moderate level of polymorphism for the five cp SSR primer pairs.The genetic diversity levels of peony cultivars varied among different populations,with the Northwest population showing relatively lower levels(I=0.590,H=0.289,and PIC=0.263).A total of 52 haplotypes were identified in the four examined populations,and the number of haplotypes per population ranged from 11 to 22.Forty-four private haplotypes were detected across populations,and the Northwest population exhibiting the highest count of private haplotypes with 17.The mean number of effective number of haplotypes(N_(eh)),haplotypic richness(R_(h)),and diversity(H)were 8.351,6.824,and 0.893,respectively.Analysis of molecular variance indicated that genetic variation within tree peony germplasm was greater than that between germplasm resources,and the main variation was found within individuals of peony germplasm.Cluster analysis,principal coordinate analysis,and genetic structure analysis classified tree peonies from different origins into two groups,indicating a certain degree of genetic differentiation among these four tree peony cultivation groups.This study provides a theoretical basis for the exploration,utilization,and conservation of peony germplasm resources,as well as for research on the breeding of excellent varieties.展开更多
基金Supported by Science and Technology Development Plan Project of Weifang,No.2023YX005。
文摘BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.
文摘Maize is an important source of calories and protein in human lives in many countries of the world and is the main staple food in Africa, particularly in eastern Africa. In the Sudan, the low yield of maize was mainly due to the use of low yielding landraces. It is necessary to carry out breeding programs that deal with the production of high yielding, adaptable new varieties. Therefore, this study aimed to estimate genetic variability, heritability, genotypic performance and interrelationships among the traits. Ten maize genotypes evaluated at White Nile Research Station Farm, Kosti, of the Agricultural Research Corporation (ARC), Wad Medani Sudan were planted in a randomized complete block design with three replications during the two seasons of 2021 and 2022. Most evaluated genotypes exhibited a wide and significant variation in the 11 measured traits. Genotypic coefficient of variation and genetic advance were recorded for days to 50% tasseling, ear diameter (cm), number of grains per row and grain yield (t/ha) in both seasons. High heritability and genetic advance were recorded for grain yield, ear length, ear height, plant height, number of rows per ear, ear weight, days to 50% tasseling, 100-grain weight and days to 50% silking. Moreover, there was a highly significant and positive correlation of grain yield with number of rows per ear (r = 0.479), ear length (r = 0.381), 100-grain weight (r = 0.344) and days to 50% tasseling (r = 0.214). The highest yielding five genotypes across the seasons were TZCOM1/ZDPSYN (4.2 t/ha), EEPVAH-3 (4.2 t/ha), F2TWLY131228 (4.1 t/ha), PVA SYN6F2 (3.9 t/ha) and EEPVAH-9 (3.8 t/ha) these were needed to check the adaptability, stability and to test major maize growing areas to make sound recommendations for release.
文摘This study evaluated the molecular characterization of different ecotypes of B. aegyptiaca populations in the four sites: Koily alpha, Labgar, Ranérou and Ballou according to the environment with the aim of developing protection strategies. We sampled leaves of B. aegyptiaca in each individual from each site to extract and amplify a fragment of mitochondrial DNA including cytochrome b and then carefully preserved. DNA extraction, polymerase chain amplification and sequencing of MT-CYB were performed in 64 individuals. Genetic diversity and structure of B. aegyptiaca were determined using the MEGA, DNasp and Arlequin software. The results showed a high haplotype diversity and low nucleotide diversity, indicating a population expansion linked to an important gene flow. Genetic distances between populations were positively correlated with geographic distance. The importance of having highlighted this genetic differentiation of the B. aegyptiaca species between these sites is to be able to understand the degree of genetic heterogeneity of each and correlate it with adaptability because genetic diversity influences the adaptation of the species.
文摘Introduction: Influenza A (Flu A) and B (Flu B) viruses are responsible for severe acute respiratory infections (SARI) worldwide, with a morbidity of 5 million and mortality of 29,000 - 650,000 deaths per year. Influenza B viruses are an important cause of respiratory infections in humans, but they tend to be underappreciated due to the predominance of Influenza A. No molecular study on Influenza B has been carried out in the DRC. This study was conducted to document the molecular evolution of the hemagglutinin (HA) gene in the circulating Influenza B strains over the eight consecutive epidemic seasons (from 2015 to 2022). Methods: Samples were collected from outpatient cases suspected of influenza-like illness (ILI) and in all hospitalized patients with SARI from January 2015 to December 2022. Molecular analysis was done to determine influenza type and subtype, and then segments encoding the HA gene of Influenza B viruses were performed. Results: Of 8497 samples collected and tested, 639 (7.5%) were positive for influenza viruses, including 389 (60.8%) for Influenza A viruses and 248 (38,8%) for Influenza B viruses. Of the positive Influenza B samples, 91 were sequenced, including 26 belonging to the B/Yamagata lineage and 65 to the B/Victoria lineage. The HA gene of Influenza B viruses circulating in the DRC showed deletions in the HA1 region. Molecular analysis of Influenza B viruses reflects the genetic diversity of Influenza B/Yam virus clades (Y2, Y3, Y3V1A) alternating with Influenza B/Victoria virus clades (V1A, V1A.3) depending on the year and influenza seasons. The phylogenetic analysis of these Influenza B strains shows compatibility with the corresponding vaccine strains that the WHO had validated for each influenza season. Conclusion: This study underscores the importance of continuous molecular surveillance of Influenza B viruses in the DRC to understand their epidemiology and evolutionary dynamics. Identifying mutations, such as HA deletions, is critical for assessing their impact on transmissibility vaccine efficacy and guiding effective vaccination and control strategies.
文摘Varietal deficiencies of upland rice lead to a low paddy grain yield. The aim of this study was to mutagenesis upland rice varieties to improve their agronomic performance. Seeds of varieties FKR45N and FKR47N were therefore irradiated with doses 300, 350 and 400 Gy. The irradiated seeds were sown and the panicles of the M1 plants were individually harvested, and then were advanced to M4 using the “one panicle - one progeny” method. The agronomic performance of M4 lines was compared to that of their parent. The gamma ray mutagenesis has induced significant variability in five yield components, i.e., plant height, main panicle length, total numbers of tillers and productive tillers and paddy grain yield between mutant lines. The highest variabilities were shown for the total number of tillers and the number of productive tillers as well as FKR45N (CV% = 40 % and 36%) and FKR47N (CV% = 31% and 30%) mutant lines. Principal component analysis led to rank the mutant lines from each variety in three clusters. The Pearson correlation showed that the paddy grain yield was significantly and positively correlated with the number of productive tillers (r = 0.61) and plant height (r = 0.66) for FKR47N mutant lines, and these correlation coefficients were r = 0.52 and r = 0.51 for FKR45N mutant lines, respectively. Gamma-ray irradiation also induced an earliness of 50% flowering of 62 days after sowing (DAS) in two FKR45N mutant lines and 67 DAS in one of KR47N mutant lines. The paddy grain yield was improved by 120% and 20% in two FKR45N and FKR47N mutant lines, respectively. A dwarf FKR45N mutant line with an early flowering of 67 DAS and a paddy grain yield (2.34 t ha−1) was generated. These results suggested that any positive increase in the six quantitative traits will increase the paddy grain yield.
文摘Smallholder farming in West Africa faces various challenges, such as limited access to seeds, fertilizers, modern mechanization, and agricultural climate services. Crop productivity obtained under these conditions varies significantly from one farmer to another, making it challenging to accurately estimate crop production through crop models. This limitation has implications for the reliability of using crop models as agricultural decision-making support tools. To support decision making in agriculture, an approach combining a genetic algorithm (GA) with the crop model AquaCrop is proposed for a location-specific calibration of maize cropping. In this approach, AquaCrop is used to simulate maize crop yield while the GA is used to derive optimal parameters set at grid cell resolution from various combinations of cultivar parameters and crop management in the process of crop and management options calibration. Statistics on pairwise simulated and observed yields indicate that the coefficient of determination varies from 0.20 to 0.65, with a yield deviation ranging from 8% to 36% across Burkina Faso (BF). An analysis of the optimal parameter sets shows that regardless of the climatic zone, a base temperature of 10˚C and an upper temperature of 32˚C is observed in at least 50% of grid cells. The growing season length and the harvest index vary significantly across BF, with the highest values found in the Soudanian zone and the lowest values in the Sahelian zone. Regarding management strategies, the fertility mean rate is approximately 35%, 39%, and 49% for the Sahelian, Soudano-sahelian, and Soudanian zones, respectively. The mean weed cover is around 36%, with the Sahelian and Soudano-sahelian zones showing the highest variability. The proposed approach can be an alternative to the conventional one-size-fits-all approach commonly used for regional crop modeling. Moreover, it has the potential to explore the performance of cropping strategies to adapt to changing climate conditions.
文摘Duchenne muscular dystrophy (DMD) is a hereditary, progressive muscular disorder inherited in an X-linked recessive pattern (Xp21). It typically manifests in childhood and follows a severe, rapid progression. Only males are affected, while females are usually carriers. Given the genetic nature of DMD, genetic counseling is an essential service for individuals affected by or at risk of carrying the disease. This service provides not only crucial medical information but also psychosocial support and ongoing management for both patients and their families. Since the discovery of the dystrophin gene in 1987, advancements in molecular genetics have made it possible to precisely identify the genes responsible for many neuromuscular diseases. These developments have revolutionized diagnosis, prognosis, and most importantly, genetic counseling, offering significant benefits for both patients and their families. To highlight the significance of these advancements, this case report focuses on a 10-year-old boy (Y) diagnosed with DMD. It emphasizes the familial nature of the disease, with Y’s two brothers, three cousins, and two maternal uncles also affected, underscoring the inherited pattern of DMD. This reinforces the critical need for early intervention, particularly in regions with high consanguinity, such as North Africa and the Middle East, where genetic counseling and prenatal diagnosis are even more essential. Additionally, the report explores the clinical presentation, diagnostic findings, and promising emerging treatments, including RNA-based therapies, which may play a key role in the future management of DMD. In light of the above, this study underscores the importance of prenatal diagnosis and genetic counseling, particularly in regions like Morocco, where consanguinity rates are notably high. By focusing on preconception care and early genetic intervention, families can be better informed, leading to more effective disease management and support.
文摘Objective: Hereditary breast and ovarian cancer syndrome (HBOC) increases the risk of developing breast, ovarian, prostate, and pancreatic cancers. With the insurance coverage for BRCA genetic testing, the number of individuals diagnosed with HBOC has increased. To use these test results effectively, cascade genetic testing (CGT) is recommended for at-risk relatives;however, it is not yet widely available. The purpose of this study was to investigate the willingness of the general population to share genetic test results and undergo CGT, as well as to analyze the factors influencing these decisions. Based on these findings, the study aimed to identify the types of support needed to support the sharing of genetic test results and promote the use of CGT. Methods: An online survey was conducted with 500 participants (50 men and women from each of the five generations, ranging from 20 to 69 years). Results: Among the HBOC blood relatives, 51.2% wanted to share the genetic results and 71.9% expressed a willingness to undergo CGT. “Matters to be shared with relatives” and “Helpful for my cancer prevention” were identified as key factors promoting the willingness to share the BRCA genetic test results and undergo CGT. The motivation for “Helpful for my cancer prevention” had a particularly strong influence on the decision to undergo CGT. Conclusion: In the general population, there is an emerging understanding that the genetic information impacts not only the individuals but also their entire families and can be valuable for cancer prevention. To promote the sharing of BRCA genetic test results and CGT uptake, the healthcare providers should offer support tailored to each family’s circumstances and establish cancer prevention measures recommended for HBOC.
文摘This paper presents an optimized strategy for multiple integrations of photovoltaic distributed generation (PV-DG) within radial distribution power systems. The proposed methodology focuses on identifying the optimal allocation and sizing of multiple PV-DG units to minimize power losses using a probabilistic PV model and time-series power flow analysis. Addressing the uncertainties in PV output due to weather variability and diurnal cycles is critical. A probabilistic assessment offers a more robust analysis of DG integration’s impact on the grid, potentially leading to more reliable system planning. The presented approach employs a genetic algorithm (GA) and a determined PV output profile and probabilistic PV generation profile based on experimental measurements for one year of solar radiation in Cairo, Egypt. The proposed algorithms are validated using a co-simulation framework that integrates MATLAB and OpenDSS, enabling analysis on a 33-bus test system. This framework can act as a guideline for creating other co-simulation algorithms to enhance computing platforms for contemporary modern distribution systems within smart grids concept. The paper presents comparisons with previous research studies and various interesting findings such as the considered hours for developing the probabilistic model presents different results.
文摘This paper introduces an optimized planning approach for integrating photovoltaic as distributed generation (PV-DG) into the radial distribution power systems, utilizing exhaustive load flow (ELF), loss sensitivity factor (LSF), genetic algorithms (GA) methods, and numerical method based on LSF. The methodology aims to determine the optimal allocation and sizing of multiple PV-DG to minimize power loss through time series power flow analysis. An approach utilizing continuous sensitivity analysis is developed and inherently leverages power flow and loss equations to compute LSF of all buses in the system towards employing a dynamic PV-DG model for more accurate results. The algorithm uses a numerical grid search method to optimize PV-DG placement in a power distribution system, focusing on minimizing system losses. It combines iterative analysis, sensitivity assessment, and comprehensive visualization to identify and present the optimal PV-DG configurations. The present-ed algorithms are verified through co-simulation framework combining MATLAB and OpenDSS to carry out analysis for 12-bus radial distribution test system. The proposed numerical method is compared with other algorithms, such as ELF, LSF methods, and Genetic Algorithms (GA). Results show that the proposed numerical method performs well in comparison with LSF and ELF solutions.
基金supported by grants from the National Key Research&Development Plan(Grants Nos.2022YFF10030022022YFD1200502)+7 种基金National Natural Science Foundation of China(Grant Nos.3237269631991182)Wuhan Biological Breeding Major Project(Grant No.2022021302024852)Key Project of Hubei Hongshan Laboratory(2021hszd007)HZAU-AGIS Cooperation Fund(Grant No.SZYJY2023022)Funds for High Quality Development of Hubei Seed Industry(HBZY2023B004)Hubei Agriculture Research System(2023HBSTX4-06)Hubei Key Research&Development Plan(Grants Nos.2022BBA0066,2022BBA0062)。
文摘Photosynthesis is one the most important chemical reaction in plants,and it is the ultimate energy source of any living organisms.The light and dark reactions are two essential phases of photosynthesis.Light reaction harvests light energy to synthesize ATP and NADPH through an electron transport chain,and as well as giving out O_(2);dark reaction fixes CO_(2) into six carbon sugars by utilizing NADPH and energy from ATP.Subsequently,plants convert optical energy into chemical energy for maintaining growth and development through absorbing light energy.Here,firstly,we highlighted the biological importance of photosynthesis,and hormones and metabolites,photosynthetic and regulating enzymes,and signaling components that collectively regulate photosynthesis in tomato.Next,we reviewed the advances in tomato photosynthesis,including two aspects of genetic basis and genetic improvement.Numerous genes regulating tomato photosynthesis are gradually uncovered,and the interaction network among those genes remains to be constructed.Finally,the photosynthesis occurring in fruit of tomato and the relationship between photosynthesis in leaf and fruit were discussed.Leaves and fruits are photosynthate sources and sinks of tomato respectively,and interaction between photosynthesis in leaf and fruit exists.Additionally,future perspectives that needs to be addressed on tomato photosynthesis were proposed.
文摘Microperforated panels(MPP)are widely used in noise control applications due to their excellent sound absorption performance.However,traditional single-layer MPPs suffer from a narrow sound absorption bandwidth,making it difficult to meet the demands for broadband sound absorption.To address this limitation,this study proposes a design approach for double-layer MPPs optimized using a genetic algorithm(GA).By optimizing structural parameters such as perforation diameter,panel thickness,perforation ratio,and cavity depth,the sound absorption performance of the double-layer MPP is significantly enhanced.The results demonstrate that the optimized double-layer MPP achieves an average sound absorption coefficient of 0.71 across the 100-5000 Hz frequency range,with a peak absorption coefficient exceeding 0.8 at 500 Hz,outperforming conventional sound-absorbing products of the same category.
基金supported by grants from the National Natural Science Foundation of China(Grant No.82273458 to Jinfei Chen)the Start-up Fund for the Recruited Talents of the First Affiliated Hospital of Wenzhou Medical University(Grant No.2021QD025 to Jinfei Chen)。
文摘The KCNQ family of genes(KCNQ1–KCNQ5),encoding voltage-gated K+(Kv)channels,have been demonstrated to play potential pathophysiological roles in cancers.However,the associations between genetic variants located in KCNQ family genes and gastric cancer survival remain unclear.In this study,a large-scale cohort comprising 1135 Chinese gastric cancer patients was enrolled to identify genetic variants in KCNQ family genes associated with overall survival(OS).Based on the survival evaluation of all five KCNQ family genes,KCNQ1 was selected for subsequent genetic analysis.In both Cox regression model and stepwise Cox regression model used to evaluate survival-related genetic variants,we found that KCNQ1 rs10832417G>T was associated with an increased OS in gastric cancer patients(adjusted hazards ratio[HR]=0.84,95%confidence interval[CI]:0.72–0.98,P=0.023).Subsequently,a nomogram was constructed to enhance the prognostic capacity and clinical translation of rs10832417 variants.The rs10832417 T allele was predicted to increase the minimum free energy of the secondary structure.Furthermore,we observed that gastric cancer patients with downregulated KCNQ1expression had a poorer survival across multiple public datasets.The findings of the present study indicate that KCNQ1 rs10832417 may serve as an independent prognostic predictor of gastric cancer,providing novel insights into the progression and survival of the disease.
文摘Pediatric inflammatory bowel disease(IBD)is a chronic and heterogeneous disease.IBD is commonly classified into Crohn’s disease and ulcerative colitis.It is linked to serious symptoms and complications.The onset of IBD commonly occurs during adolescence.Despite the significant number of cases globally(~5 million),the causes of pediatric IBD,which constitutes 25%of IBD patients,are not yet fully understood.Apart from environmental factors,genetic factors contribute to a higher risk of developing IBD.The predisposition risk of IBD can be investigated using genetic testing.Genetic mechanisms of pediatric IBD are highly complex which resulted in difficulty in selecting effective treatment or patient management.Genetic variation of IBD would serve as a basis for precision medicine and allow for the discovery of more robust treatment avenues for this condition in pediatric patients.This review aims to discuss the genetics of pediatric IBD,and current development in the screening,diagnosis,and treatment based on genetic profiling of pediatric IBD subjects toward more personalized management of this disease.
基金The Zhejiang Provincial Natural Science Foundation of China under contract Nos LY22D060001 and LY20C190008the National Natural Science Foundation of China(NSFC)under contract No.41806156the Key Research and Development Projects in Xizang under contract No.XZ202301ZY0012N.
文摘Microsatellite markers with polymorphic advantages are widely used in the exploration and utilization of marine fishery resources.In this study,16 polymorphic microsatellite markers were used to evaluate the diversity and population structure of Setipinna tenuifilis,a nearshore fish of economic and ecological value in the western Pacific Ocean and Indian Ocean.The genetic diversity of S.tenuifilis showed a high level[mean Na(number of alleles)is 23.25,mean Ho(observed heterozygosity)is 0.639,mean R_(a)(allelic richness)is 11.625,and the polymorphic information content(PIC)is 0.844]similar to other Clupeiformes fish species.The nine wild S.tenuifilis populations showed significant differentiation(F_(ST)ranging from 0.00384 to 0.19346)and were generally divided into southern and northern populations based on genetic structure,except for the Zhoushan population,which exhibited genetic mixture.Our results provide fundamental but significant genetic insights for the management and conservation of S.tenuifilis fishery resources.
文摘Objective To study the key technologies in the field of ginsenosides and to offer a guide for the future development ginsenosides through the main path identification method based on genetic knowledge persistence algorithm(GKPA).Methods The global ginsenoside invention authorized patents were used as the data source to construct a ginsenoside patent self-citation network,and to identify high knowledge persistent patents(HKPP)of ginsenoside technology based on the GKPA,and extract its high knowledge persistence main path(HKPMP).Finally,the genetic forward and backward path(GFBP)was used to search the nodes on the main path,and draw the genetic forward and backward main path(GFBMP)of ginsenoside technology.Results and Conclusion The algorithm was applied to the field of ginsenosides.The research results show the milestone patents in ginsenosides technology and the main evolution process of three key technologies,which points out the future direction for the technological development of ginsenosides.The results obtained by this algorithm are more interpretable,comprehensive and scientific.
文摘Background:Over the past few decades,a threefold increase in obesity and type 2 diabetes(T2D)has placed a heavy burden on the health-care system and society.Previous studies have shown correlations between obesity,T2D,and neurodegenera-tive diseases,including dementia.It is imperative to further understand the relation-ship between obesity,T2D,and cognitive deficits.Methods:This investigation tested and evaluated the cognitive impact of obesity and T2D induced by high-fat diet(HFD)and the effect of the host genetic background on the severity of cognitive decline caused by obesity and T2D in collaborative cross(CC)mice.The CC mice are a genetically diverse panel derived from eight inbred strains.Results:Our findings demonstrated significant variations in the recorded phenotypes across different CC lines compared to the reference mouse line,C57BL/6J.CC037 line exhibited a substantial increase in body weight on HFD,whereas line CC005 ex-hibited differing responses based on sex.Glucose tolerance tests revealed significant variations,with some lines like CC005 showing a marked increase in area under the curve(AUC)values on HFD.Organ weights,including brain,spleen,liver,and kidney,varied significantly among the lines and sexes in response to HFD.Behavioral tests using the Morris water maze indicated that cognitive performance was differentially affected by diet and genetic background.Conclusions:Our study establishes a foundation for future quantitative trait loci map-ping using CC lines and identifying genes underlying the comorbidity of Alzheimer's disease(AD),caused by obesity and T2D.The genetic components may offer new tools for early prediction and prevention.
基金supported by the Education Reform Program of Jiangxi Provincial Department of Education(JXJG-22-23-3,JXJG-23-23-5)the“Biology and Medicine”Discipline Construction Project of Nanchang NormalUniversity(100/20149)+2 种基金Jiangxi Province Key Laboratory of Oil Crops Biology(YLKFKT202203)the Education Reform Program of Nanchang Normal University(NSJG-21-25)Nanchang Key Laboratory of Comprehensive Research and Development of Brasenia schreberi(32060078).
文摘Pyrola atropurpurea Franch is an important annual herbaceous plant.Few genomic analyses have been conducted on this plant,and chloroplast genome research will enrich its genomics basis.This study is based on high-throughput sequencing technology and Bioinformatics methods to obtain the sequence,structure,and other characteristics of the P.atropurpurea chloroplast genome.The result showed that the chloroplast genome of P.atropurpurea has a double-stranded circular structure with a total length of 172,535 bp and a typical four-segment structure.The genome has annotated a total of 132 functional genes,including 43 tRNAs,8 rRNAs,76 protein-coding genes,and 5 pseudo-genes.In total,358 SSR loci were checked out,mainly composed of mononucleotide and trinucleotide repeat.There are three types of scattered repetitive sequences,totaling 4223,including 2452 forward repeats,1763 palindrome repeats,and eight reverse repeats.The optimal codon usage frequency is relatively high with AT usage preference in this genome.Chloroplast genome comparative analysis in the family Ericaceae shows that the overall sequence is more complex,and there are more variations in the gene interval region.The collinearity analysis indicated that there is a complex rearrangement of species between different genera in Ericaceae.The selection pressure analysis showed that the protein-encoding genes rpl33 and rps16 were positively selected among the seven medicinal plants in Ericaceae.The maximum likelihood tree shows that the genetic relationship among P.atropurpurea,Pyrola rotundifolia,and Chimaphila japonica is relatively close.Therefore,an important data basis was provided for species identification,genetic diversity,and phylogenetic studies of P.atropurpurea and even this genus of plants.
文摘BACKGROUND Birt-Hogg-Dubé(BHD)syndrome is a rare genetic disorder associated with mutations in the BHD gene,which can manifest symptoms at any age,including dermatological and pulmonary complications,as well as renal tumors.This study presents a case of a BHD patient who experienced spontaneous pneumothorax,aiming to enhance the understanding of this syndrome.CASE SUMMARY A 42-year-old female patient presented with left-sided chest pain and tightness lasting three days.Chest computed tomography scans revealed left-sided pneumothorax and multiple pulmonary bullae.Physical examination indicated decreased vocal fremitus and tympanic percussion on the left side.A thorough family history revealed a pattern of pulmonary disorders,including emphysema,spontaneous pneumothorax,and lung cancer among relatives.Genetic testing identified a heterozygous frameshift mutation in the FLCN gene at the 17p11.2 locus.Based on the clinical presentation,imaging findings,family history,and genetic results,the patient was suspected to have BHD syndrome.CONCLUSION We present a case of a heterozygous mutation in the FLCN gene in a patient with BHD syndrome,aiming to review the associated clinical characteristics and genetic mechanisms of this condition.This case serves as a reference point to offer insights into the diagnosis of multiple pulmonary cysts and spontaneous pneumo-thorax of unknown etiology in clinical practice.
基金supported by Innovation Scientists and Technicians Troop Construction Projects of Henan Province(Grant No.212101510003)the Central Plains Scholar Workstation Project(Grant No.224400510002)+1 种基金the Youth Science Foundation of Henan Province(Grant No.202300410136)the Experimental Development Foundation of Henan University of Science and Technology(Grant No.SY2324004)。
文摘Paeonia suffruticosa Andr.is an endemic shrub flower in China with 2n=10.This study used 228 cultivars from four populations,i.e.,Jiangnan,Japan,Northwest,and Zhongyuan,as materials to explore the genetic diversity levels among different populations of tree peony varieties.The results showed that 34 bands were amplified using five pairs of cp SSR primers,with an average of 6.8 bands per primer pair.The average number of different alleles(N_(a)),effective alleles(N_(e)),Shannon's information index(I),diversity(H),and polymorphic information content(PIC)were 3.600,2.053,0.708,0.433,and 0.388,respectively.The PIC value was between 0.250 and 0.500,indicating a moderate level of polymorphism for the five cp SSR primer pairs.The genetic diversity levels of peony cultivars varied among different populations,with the Northwest population showing relatively lower levels(I=0.590,H=0.289,and PIC=0.263).A total of 52 haplotypes were identified in the four examined populations,and the number of haplotypes per population ranged from 11 to 22.Forty-four private haplotypes were detected across populations,and the Northwest population exhibiting the highest count of private haplotypes with 17.The mean number of effective number of haplotypes(N_(eh)),haplotypic richness(R_(h)),and diversity(H)were 8.351,6.824,and 0.893,respectively.Analysis of molecular variance indicated that genetic variation within tree peony germplasm was greater than that between germplasm resources,and the main variation was found within individuals of peony germplasm.Cluster analysis,principal coordinate analysis,and genetic structure analysis classified tree peonies from different origins into two groups,indicating a certain degree of genetic differentiation among these four tree peony cultivation groups.This study provides a theoretical basis for the exploration,utilization,and conservation of peony germplasm resources,as well as for research on the breeding of excellent varieties.
