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MYBPC3基因p.Ile852Val突变与家族性肥厚型心肌病的相关性研究 被引量:1
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作者 朱汀 陶琴 +1 位作者 何萍萍 张郁青 《心肺血管病杂志》 2020年第3期328-331,共4页
目的:MYBPC3基因突变是肥厚性心肌病(HCM)的常见原因,本研究对导致HCM的一种新型的MYBPC3基因突变进行研究。方法:纳入了1例HCM患者及其家系中的8个亲属,同时纳入13名健康志愿者作为对照。对HCM患者家系及对照组成员进行基因测序,同时对... 目的:MYBPC3基因突变是肥厚性心肌病(HCM)的常见原因,本研究对导致HCM的一种新型的MYBPC3基因突变进行研究。方法:纳入了1例HCM患者及其家系中的8个亲属,同时纳入13名健康志愿者作为对照。对HCM患者家系及对照组成员进行基因测序,同时对HCM患者家系进行谱系分析、临床评估和基因分型。结果:在患者家系中,患者母亲及外祖父为肥厚型心肌病患者,基因测序发现患者及该2名亲属均存在MYBPC3基因p.Ile852Val杂合突变,其余5名亲属及健康对照组均无此突变。患者及其母亲临床症状相对较轻,但表现并不相同,外祖父长期卧床,症状较重,有严重胸闷气喘,在研究过程中猝死。结论:MYBPC3基因p.Ile852Val杂合突变与肥厚型心肌病相关,该突变为一种新型的导致HCM的基因突变,且携带该突变的HCM患者临床症状存在一定差异性。 展开更多
关键词 家族性肥厚型心肌病 MYBPC3 基因 表型差异性
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Research on Sex and Tissue Differences in Isozymic Phenotype of Varicorhinus macrolepis through Isozyme Electrophoresis 被引量:6
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作者 庞秋香 庞书香 +5 位作者 赵博生 宿烽 孙欢欢 颜越 吕志林 刘龙 《Agricultural Science & Technology》 CAS 2010年第5期101-105,共5页
Polyacrylamide gel electrophoresis (PAGE) and biochemical staining method were used in this study for the analysis on malate dehydrogenase (MDH,E.C. 1.1.1.37) isozymes zymogram in 11 different types of tissues of male... Polyacrylamide gel electrophoresis (PAGE) and biochemical staining method were used in this study for the analysis on malate dehydrogenase (MDH,E.C. 1.1.1.37) isozymes zymogram in 11 different types of tissues of male and female Varicorhinus macrolepis. It had been found for the first time that the phenotype of malate dehydrogenase (MDH),acid phosphatase (ACP) and superoxide dismutase (SOD) showed difference between male and female V. macrolepis,and there was no difference among different individuals in the same sex. Therefore,the electrophoresis band of malate dehydrogenase,acid phosphatase and superoxide dismutase could be used as an indicator for the identification of gender and tissues of V. macrolepis,which would provide basic data for the developmental genetics,variety improvement and directed breeding of V. macrolepis groups,thus facilitating the development and protection of this valuable fish species. 展开更多
关键词 Varicorhinus macrolepis Malate dehydrogenase Acid phosphatase Superoxide dismutase Polyacrylamide gel electrophoresis (PAGE)
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Phenotypic and genetic characterization of a novel strain of Acidithiobacillus ferrooxidans(AF2) 被引量:1
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作者 刘倩 周洪波 +2 位作者 杨波 敖敬群 陈新华 《Journal of Central South University》 SCIE EI CAS 2011年第2期386-391,共6页
A comparative study on the phenotypic and genetic characteristics among Acidithiobacillus ferrooxidans (AF2), a typic strain ATCC23270 and a previously isolated strain AF3 was performed. AF2 can use ferrous ion (F... A comparative study on the phenotypic and genetic characteristics among Acidithiobacillus ferrooxidans (AF2), a typic strain ATCC23270 and a previously isolated strain AF3 was performed. AF2 can use ferrous ion (Fe^2+) or elemental sulfur (S^0) as sole energy source, but oxidizes So more effectively than Fe^2+, which is different from ATCC23270 and AF3. The G+C content of AF2 is 51.8% (molar fraction), however, ATCC23270 and AF3 strains have G+C content of 63.7% and 64.8% (molar fraction), respectively. The DNA-DNA hybridization results show that AF2 has 41.53% and 52.38% genome similarity to ATCC 23270 and AF3, respectively, but AF3 has a high genome similarity of 89.86% to ATCC 23270 strain. Rusticyanin (rus) and subunit III of aa3-type cytochrome oxidase (coxC) genes are not detected in AF2, but Fe^2+ oxidase (iro) gene can be detected. To understand the genomic organization of iro gene, a cosmid library of AF2 genome was constructed and iro gene-containing clone was screened. The sequencing result shows that although the nucleotide sequence of iro gene in AF2 is completely identical to that of ATCC 23270 strain, its genomic organization is different from that of ATCC 23270. In AF2, iro is located at downstream ofpurA gene, while it is located at downstream ofpetC-2 gene in ATCC 23270 strain. These results indicate that AF2 is a novel strain ofA. ferrooxidans, and that phenotypic differences among the strains ofA. ferrooxidans are closely correlated with their genetic polymorphisms. 展开更多
关键词 Aeidithiobacillusferrooxidans phenotypic and genetic characterization Iro gene cosmid library iron respiratory chain
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Lee discrepancy on asymmetrical factorials with two-and three-levels 被引量:7
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作者 CHATTERJEE Kashinath QIN Hong ZOU Na 《Science China Mathematics》 SCIE 2012年第3期663-670,共8页
Lee discrepancy has been employed to measure the uniformity of fractional factorials.In this paper,we further study the statistical justification of Lee discrepancy on asymmetrical factorials.We will give an expressio... Lee discrepancy has been employed to measure the uniformity of fractional factorials.In this paper,we further study the statistical justification of Lee discrepancy on asymmetrical factorials.We will give an expression of the Lee discrepancy of asymmetrical factorials with two-and three-levels in terms of quadric form,present a connection between Lee discrepancy,orthogonality and minimum moment aberration,and obtain a lower bound of Lee discrepancy of asymmetrical factorials with two-and three-levels. 展开更多
关键词 Lee discrepancy lower bound minimum moment aberration ORTHOGONALITY uniformity
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