中国南方汉族群体27个Y-STR基因座的遗传多态性及 突变研究

摘 要: 【目的】 调查27个Y-STR基因座在中国南方汉族群体的遗传多态性及突变情况?【方法】 采集885名中国南方汉族无关男性个体血样和911对父子血样,采用Yfiler?誖Plus扩增体系对样本进行扩增,并进行毛细管电泳检测与分型,统计相关遗传多态性参数,观察Y-STR基因座突变情况? 【结果】 885名无关男性个体中共观察到880种单倍型,其中875种单倍型为唯一单倍型,5种单倍型分别出现两次?单倍型多样性(HD)为0.999 987 2,系统识别能力(DC)为0.994 350 3?27个Y-STR基因座基因多态性(GD)在0.434 4(DYS438)~0.960 5(DYS385...

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Published inZhongshan da xue xue bao. Zhongshan daxue xuebao yixue kexue ban = Journal of Sun Yat-sen University. Yi xue ke xue ban Vol. 36
Format Journal Article
LanguageChinese
Published Editorial Office of Journal of Sun Yat-sen University 01.01.2015
Subjects
YfilerRPlus PCR扩增体系
短串联重复序列(STR)
突变
遗传多态性
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ISSN1672-3554

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Abstract 摘 要: 【目的】 调查27个Y-STR基因座在中国南方汉族群体的遗传多态性及突变情况?【方法】 采集885名中国南方汉族无关男性个体血样和911对父子血样,采用Yfiler?誖Plus扩增体系对样本进行扩增,并进行毛细管电泳检测与分型,统计相关遗传多态性参数,观察Y-STR基因座突变情况? 【结果】 885名无关男性个体中共观察到880种单倍型,其中875种单倍型为唯一单倍型,5种单倍型分别出现两次?单倍型多样性(HD)为0.999 987 2,系统识别能力(DC)为0.994 350 3?27个Y-STR基因座基因多态性(GD)在0.434 4(DYS438)~0.960 5(DYS385a/b)之间?在911个父子对共246 23次等位基因传递中共观察到113次突变事件,其中108次突变事件为一步突变,5次突变事件为二步突变?11个父子对观察到2个基因座同时突变,1个父子对发生3个基因座同时突变?平均突变率为4.6 × 10-3(95%CI:3.8 × 10-3 ~ 5.5 × 10-3)?【结论】 Yfiler?誖Plus体系包含的27个Y-STR基因座在中国南方汉族群体中具有高度遗传多态性,对于法医学实践中个体识别?父系亲缘关系鉴定等具有重要意义?
AbstractList 摘 要: 【目的】 调查27个Y-STR基因座在中国南方汉族群体的遗传多态性及突变情况?【方法】 采集885名中国南方汉族无关男性个体血样和911对父子血样,采用Yfiler?誖Plus扩增体系对样本进行扩增,并进行毛细管电泳检测与分型,统计相关遗传多态性参数,观察Y-STR基因座突变情况? 【结果】 885名无关男性个体中共观察到880种单倍型,其中875种单倍型为唯一单倍型,5种单倍型分别出现两次?单倍型多样性(HD)为0.999 987 2,系统识别能力(DC)为0.994 350 3?27个Y-STR基因座基因多态性(GD)在0.434 4(DYS438)~0.960 5(DYS385a/b)之间?在911个父子对共246 23次等位基因传递中共观察到113次突变事件,其中108次突变事件为一步突变,5次突变事件为二步突变?11个父子对观察到2个基因座同时突变,1个父子对发生3个基因座同时突变?平均突变率为4.6 × 10-3(95%CI:3.8 × 10-3 ~ 5.5 × 10-3)?【结论】 Yfiler?誖Plus体系包含的27个Y-STR基因座在中国南方汉族群体中具有高度遗传多态性,对于法医学实践中个体识别?父系亲缘关系鉴定等具有重要意义?
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Snippet 摘 要: 【目的】 调查27个Y-STR基因座在中国南方汉族群体的遗传多态性及突变情况?【方法】 采集885名中国南方汉族无关男性个体血样和911对父子血样,采用Yfiler?誖Plus扩增体系...
SourceID doaj
SourceType Open Website
SubjectTerms YfilerRPlus PCR扩增体系
短串联重复序列(STR)
突变
遗传多态性
Title 中国南方汉族群体27个Y-STR基因座的遗传多态性及 突变研究
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