藏族群体Y染色体14个短串联重复序列基因座遗传多态性  

Genetic polymorphisms of 14 Y-chromosomal short tandem repeat loci and haplotypes in Tibetan

作　　者：赵健民[1] 袁东亚[2] 康龙丽[2] 刘凯[3] 李生斌[4] 

机构地区：[1]西藏大学医学院,拉萨850000 [2]西藏民族学院生命科学基础实验室,西藏高原环境与疾病相关实验室 [3]西藏职业技术学院 [4]西安交通大学环境与疾病相关基因实验室卫生部法医学实验室

出　　处：《中华医学遗传学杂志》2007年第1期94-96,共3页Chinese Journal of Medical Genetics

摘　　要：目的 调查藏族Y染色体上14个短串联重复序列基因座及单倍型的遗传多态性。方法 应用AmpFISTR Y Filer^TM PCR Amplification kit进行复合PCR扩增，自动基因分析仪电泳检测126名藏族男性无关个体血样。结果 在14个基因座中共检出121个等位基因，基因多样性分布在0．4104（DYS391）至0．9489（DYS385a，b）之间，除了DYS391以外，其余等位基因频率多样性均大于0．5。由14个基因座组成的Y染色体单倍型系统单倍型有105种，单倍型频率多样性0．9998。结论 上述14个Y-短串联重复基因座在藏族群体中具有较好的多态性，单倍型具有很高的遗传多态性。Objective To reveal the alhlic frequencies and haplotype frequencies of fourteen Y-chromesome short tandem repeat （STR） loci in a Tibetan population. Methods The Y-chromosomal STR loci were analyzed from 126 healthy unrelated autochthonous male individuals of Chinese Tibetan using a multiplex PCR system. Allele and haplotype frequencies for these loci were determined by the AmpFLSTR Y filerTM PCR Amplification kit. Results On hundred and twenty-one alleles were detected from the 14 STR loci. The allele diversity values （DP） for each locus ranged from 0.4104 （DYS391） to 0.9489 （DYS385a, b）, the DP value of these loci were higher than 0.5 except for that of DYS391. A total of 105 haplotypes were identified in the Y-STR loci, among which 103 were unique, while two occurred more than once. The overall haplotype diversity for the Y-STR loci was 0.9998, and the discrimination capacity was 0.9898. Conclusion The 14 SIR loci above belong to loci of high discriminating ability, the haplotypes are highly Polymorphic.

关 键 词：臧族人 Y-染色体 遗传多态性 短串联重复序列 单倍型 

分 类 号：R686[医药卫生—骨科学]