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223名智力低下儿童病因分析 被引量:2
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作者 刘尔才 李晓伟 +1 位作者 赵曼青 张秀珍 《中国优生与遗传杂志》 2002年第2期110-110,116,共2页
本文对我院就诊的223名智力低下(MR)儿童进行病因分析,结果显示:遗传性疾病所造成的MR19名,占8.5%,既往疾病所造成的MR170名,占76.2%,不易分类的疾病34名,占15.3%,母亲大学文化的MR23名,占10.3%,中学文化MR36名,占16%,小学文化MR54名,占... 本文对我院就诊的223名智力低下(MR)儿童进行病因分析,结果显示:遗传性疾病所造成的MR19名,占8.5%,既往疾病所造成的MR170名,占76.2%,不易分类的疾病34名,占15.3%,母亲大学文化的MR23名,占10.3%,中学文化MR36名,占16%,小学文化MR54名,占%24.7%,母亲文盲MR110;占49%;轻度MR109,占48.9%,重度MR14,占51.1%。文中对病因进行了分析。 展开更多
关键词 智力低下 智商 遗传病因分析 儿童
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Genomic analysis of epithelial ovarian cancer 被引量:1
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作者 John Farley Laurent L Ozbun Michael J Birrer 《Cell Research》 SCIE CAS CSCD 2008年第5期538-548,共11页
Ovarian cancer is a major health problem for women in the United States. Despite evidence of considerable heterogeneity, most cases of ovarian cancer are treated in a similar fashion. The molecular basis for the clini... Ovarian cancer is a major health problem for women in the United States. Despite evidence of considerable heterogeneity, most cases of ovarian cancer are treated in a similar fashion. The molecular basis for the clinicopathologic characteristics of these tumors remains poorly defined. Whole genome expression profiling is a genomic tool, which can identify dysregulated genes and uncover unique sub-classes of tumors. The application of this technology to ovarian cancer has provided a solid molecular basis for differences in histology and grade of ovarian tumors. Differentially expressed genes identified pathways implicated in cell proliferation, invasion, motility, chromosomal instability, and gene silencing and provided new insights into the origin and potential treatment of these cancers. The added knowledge provided by global gene expression profiling should allow for a more rational treatment of ovarian cancers. These techniques are leading to a paradigm shift from empirical treatment to an individually tailored approach. This review summarizes the new genomic data on epithelial ovarian cancers of different histology and grade and the impact it will have on our understanding and treatment of this disease. 展开更多
关键词 GYNECOLOGIC MALIGNANCIES expression profiling pathway analysis
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CLINICAL AND GENETIC ANALYSIS OF THREE FAMILIES WITH FAMILIAR AMYLOID POLYNEUROPATHY 被引量:3
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作者 Yan-feng Li Hou Ng +1 位作者 Iok Sun U Waii Leong 《Chinese Medical Sciences Journal》 CAS CSCD 2008年第4期230-233,共4页
Objective To study the clinical and genetic features of familiar amyloid polyneuropathy (FAP). Methods Three families of suspected FAP in China mainland and Macao were investigated on aspects of clinical manifestation... Objective To study the clinical and genetic features of familiar amyloid polyneuropathy (FAP). Methods Three families of suspected FAP in China mainland and Macao were investigated on aspects of clinical manifestations, histological features, and gene analysis. Results All the 3 families had the clinical features of sensory and motor polyneuropathies, and notable vegetative nerve involvements. Affected cases of one family had ultrasound proved cardiomyopathy. Histological studies showed amyloid deposition in all the biopsy tissues of the affected cases of the 3 families, and anti-transthyretin antisera staining was positive in 3 cases of one family. Gene analysis confirmed that mutation types were amyloidogenic transthyretin (ATTR) Val30Met, Phe33Val, and Gly67Glu in the 3 families respectively. The ATTR Gly67Glu family had a shorter survival time due to the heart involvement compared with the other 2 families. Conclusion FAP is an autosomal dominant inherited disease, with its clinical manifestations related to the type of genetic mutation. 展开更多
关键词 familiar amyloid polyneuropathy AMYLOIDOSIS gene mutation
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Sequence analysis of the hsp60 gene and it′s application in identification of pathogenic bacteria
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作者 Yu SHAN HU MING WANG +5 位作者 LING DU ZI YAO MO ZHI AI DENG JUN HUA LIU YUN WAN LIN LI FANG JIANG 《Journal of Microbiology and Immunology》 2007年第1期1-6,共6页
To support the scientific basis for rapid identification of pathogenic bacteria and other stud- ies,the sequences of hsp60 gene in major 34 species of 16 genus of pathogenic bacteria were search out in GenBank and a p... To support the scientific basis for rapid identification of pathogenic bacteria and other stud- ies,the sequences of hsp60 gene in major 34 species of 16 genus of pathogenic bacteria were search out in GenBank and a proper pair of universal degenerate primer was designed by means of the molecu- lar biological softwawe Primer 5.0 and Oligo 6.0.This primer was then used in the PCR amplification, and the hsp60 gene fragments of the selected pathogenic bacteria could be amplified using this degener- ate primer.By way of bioinformational analysis,the conservation,variation and the interspecies phylo- genetic relations of the hsp60 gene sequence were analysed.From the results of the comparative study on sequences,it was demonstrated that the hsp60 gene was characterized by conservation and varia- tion,in which the conserved and mutant regions co-existed and separately distributed with many small mutant regions distributed among the conserved regions,just like the mosaic.The phylogenetic tree among different pathogenic bacteria drawn from the hsp60 gene analysis was proved to be consistent with those from 16S rRNA and 23S rRNA.It is concluded that the sequence distribution of hsp60 gene would provide a solid basis for the rapid identification of pathogenic bacteria and the development of a diagnostic microarray. 展开更多
关键词 hsp60 Homology Phylogenesis
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