广东汉族群体24个Y-STR基因座的多态性及突变率

目的调查24个Y-STR基因座在广东汉族群体中的遗传多态性和突变现象。方法收集800对经常染色体STR检验确定父子关系的血滤纸样本,用于突变现象观察;其中父亲样本视为无关个体,用于多态性调查。采用GFS 24Y荧光标记复合扩增体系进行扩增及Y-STR分型,并对分型结果进行相关统计分析。结果 800名广东汉族男性无关个体在24个Y-STR基因座中共检出794种单倍型,其中788种为唯一单倍型,总的单倍型多样性（HD）和识别能力（DC）分别为0.999 98和0.992 5。24个基因座共检出296个等位基因,基因多样性值（GD）在0.552 1-0.960 9之间。800对父子中共19 219次等位基因传递中,观察到41对父子共42个突变事件,各基因座总突变率为2.185 310^-3（95%CI 1.575 410^-3-2.952 810^-3）。结论本研究24个Y-STR基因座在广东汉族群体具有较高的遗传多态性,在法医学个体识别、父系亲缘关系鉴定等方面具有很高的应用价值。

The genetic polymorphisms and mutation rates of 24 Y-STR loci in Guangdong Han population

Objective To investigate the polymorphisms and mutation phenomenon of 24 Y-STR loci from GFS 24 Y system in Guangdong Han population. Methods Blood samples of 800 father-son duos which had been confirmed parentage with autosomal STR typing were collected to observe mutation phenomenon,in which the samples from fathers were regarded as unrelated individuals to observe genetic polymorphisms.Samples were genotyped with GFS 24 Y fluorescent multiplex system. The statistical analysis was also performed for the typing results. Results 794 different haplotypes were identified from 800 unrelated Guangdong Han male individuals,among which 788 were unique. The overall haplotype diversity（ HD）and discrimination capacity（ DC） were 0. 999 98 and 0. 992 5 respectively. Totally,296 alleles were observed at 24 Y-STR loci. The value of gene diversity（ GD） was varied from 0. 552 1（ DYS531） to0. 960 9（ DYS385 a / b）. Among 19 219 allele transfers at 24 Y-STR loci,42 mutation events were observed in 41 father-son duos. The total mutation rate was 2. 185 310^-3（ 95% CI： 1. 575 410^-3- 2. 952 810^-3）.Conclusion The 24 Y-STR loci included in GFS 24 Y system are highly polymorphic in Guangdong Han population and show great application value for forensic personal identification and patrilineal kinship testing.