云南白族群体Y-STR及Y-SNP关联性探讨

目的探讨Y-STR与Y-SNP单倍群间的关联性及其法医学应用价值。方法用Y-filer的17个Y-STR基因座及6个Y-SNPs（M122、M95、M9、M130、M119和M45）对云南白族146名无关男性个体样本进行检测。结果①17个Y-STR基因座构成的单倍型在146名男性个体中共检出114种单倍型,其中93种仅出现于一名个体中。②6个Y-SNPs在白族中的频率为4.1%～47.3%,其中O3-M122频率最高,占47.3%。③综合两类遗传标记结果,出现于2名或2名以上个体的21种Y-STR单倍型中,有5种其Y-SNP不同;分别只有一个Y-STR基因座分型不同的29对单倍型中,有8对其Y-SNP分别不同。Y-SNP单倍群间部分Y-STR基因座等位基因频率分布存在一定差异。结论 Y-STR单倍型相同或相近的个体间其Y-SNP分型可不相同,结合两者进行检测分析对于男性嫌疑人家系排查具有重要意义。

The correlation study of Y-STR and Y-SNP in Yunnan Bai population

Objective To investigate the correlation of Y-STR and Y-SNP and their application in forensic science.Methods 17 Y-STR loci and 6 Y-SNPs were typed in a sample of 146 unrelated males from Yunnan Bai population using Y-filer amplification system and reference primers respectively.Results ①A total of 114 haplotypes were observed in the 146 individuals studied,of which 93 were observed only in one individual.② The frequency distribution of 6 Y-SNPs was range from 4.1% to 47.3%,and haplogroup O3-M122 shown in the higest frequencies,accounting for 47.3%.③Combined analysis of these two types of genetic markers shown that 5 of 21 haplotypes found in two or more individuals had different typed in Y-SNP,and 8 of 29 differing only in a locus had different Y-SNP typed.Some differences in the alleles distributions of Y-STR loci between different Y-SNP haplogroups could be found.Conclusion Males who share an identical or close Y-STR haplotype can differ in their Y-SNP typing,and it will be useful in ascertaining the male criminals through paternal lineage by analysis of these two types of markers together.