马蹄内翻足易感基因多位点遗传多态性分析  

Genetic polymorphism of 7 STR loci in idiopathic congenital talipes equinovarus predisposing genes

作　　者：刘丽英[1,2] 金春莲[1] 林长坤[1] 蒋丽[2] 孙开来[1] 

机构地区：[1]中国医科大学医学遗传学教研室,沈阳110001 [2]沈阳市妇婴医院生殖中心

出　　处：《中国公共卫生》2010年第12期1544-1545,共2页Chinese Journal of Public Health

基　　金：国家自然科学基金(30471803);国家重点基础研究发展规划基金(2001CB510301)

摘　　要：目的了解马蹄内翻足易感基因6q12-13区域内7个短串联重复序列（STR）位点的遗传多态性分布,获得相应位点的群体遗传学信息。方法 2006-2007年于沈阳军区第二零二医院选取常规体检的100名健康人,应用PCR扩增技术及聚丙烯酰胺凝胶电泳方法 ,对其染色体6q12-13区域内7个多态位点的多态性进行分析。结果 7个多态位点,509-8B2F/R位点检测到8个等位基因;D6S239位点、D6S1681位点、D6S280位点、D6S421位点各检测到6个;D6S313位点、D6S1036位点各检测到5个;基因型检测：D6S1036位点为12种,D6S239位点为18种,D6S1681位点为19种,D6S421位点为14种,509-8B2F/R位点为27种,D6S280位点为19种,D6S313位点为10种;7个多态位点的杂合度为77%~85%。结论马蹄内翻足易感基因6q12-13区域的7个STR位点均具有较高的多态性,是进行连锁或关联分析、基因诊断的理想位点。Objective To analyze the genetic polymorphism of 7 short tandem repeat（STR） loci in idiopathic congenital talipes equinovarus predisposing genes.Methods Polymerase chain reaction and polyacrylamide gel electrophoresis were used to analyze the genetic polymorphism of 100 routine check up individuals from Number 202 hospital of People＇s Liberation Army at 7 STR（D6S1036,D6S239,D6S1681,D6S421,5098B2F/R,D6S280,and D6S313） on chromosome 6q12-13.Results At seven STR loci,5,6,6,6,8,6,5 alleles and 12,18,19,14,27,19,10 genotypes were observed,respectively.The distributions of genotypes in northern Chinese Han population are in accordance with Hardy-Weinberg equilibrium and have higher heterozygosities.Conclusion The highly genetic polymorphism was observed at 7 STR loci in northern Chinese Han population and can be used for linkage analysis and genetic diagnosis.

关 键 词：马蹄内翻足 易感基因 遗传多态性 短串联重复序列(STR) 

分 类 号：R181.33[医药卫生—流行病学]