潮汕地区汉族人群20个Y染色体短串联重复序列基因座复合扩增及遗传多态性

Twenty Y-STR locus nmltiplex amplification and genetic polymorphism analysis in Han population in Chaoshan area

目的获得20个Y染色体短串联重复序列（Yshort tandemrepeats,Y-STR）基因座及其单倍型在潮汕地区汉族人群中的遗传多态性分布情况,评估其法医学应用价值。方法通过建立3组Y-STR荧光标记复合扩增系统（MultiplexⅠ：DYS434,Y-GATA-A10,DYS438,DYS439,DYS531,DYS557,DYS448,DYS456,DYS444;MultiplexⅡ：DYS458,DYS460,DYS443,DYS447,DYS446,DYS709;MultiplexⅢ：DYS622,DYS635,Y-GATA-H4,DYS520,DYS630）,对潮汕地区汉族158名无关男性个体进行20个STR基因座的复合扩增,用ABI310基因分析仪对扩增产物进行检测,统计20个Y-STR基因座的群体遗传学参数。结果3组复合扩增系统均可成功进行分型,基因多样性（gene diversity,GD）值最低为0.2506（DYS434）,最高为0.8034（DYS447）;20个Y-STR基因座共同构成的单倍型157种,其中156种为唯一的,单倍型多样性为0.999998。另对30个父性家系调查显示：同一家系成员20个Y-STR基因座单倍型一致,未观察到基因突变。结论20个Y-STR基因座具有丰富的遗传多态性,父系遗传稳定,建立的3组Y-STR荧光标记复合扩增系统分型可靠,可用于法医学个体识别和亲权鉴定。

Objective To study genetic polymorphisms of 20 Y-chromosomal short tandem repeats （STR） in Chaoshan Han population, and to evaluate their value in forensic science. Methods Twenty Y-specific STR loci （DYS434, Y-GATA-A10, Y-GATA-H4, DYS438, DYS439, DYS443, DYS444, DYS446, DYS447, DYS448, DYS456, DYS458, DYS460, DYS520, DYS531, DYS557, DYS622, DYS630, DYS635 and DYS709） were amplified by using three fluorescence-labeled multiplex PCR systems and were analyzed by ABI310 genetic analyzer. One htmdred and fifty-eight unrelated male individuals of Han population in Chaoshan area were investigated to determine the distribution of allele frequencies and haplotype. Results The Y-STR multiplexes developed had followed the published nomenclatmre and ISFG guidelines for STR analysis. Gene diversity ranged from 0. 2506 at DYS434 to 0. 8034 at DYS447. A total of 157 different haplotypes were observed, and among these, 156 were unique, while 1 was fotmd for two times. The haplotype diversity value calculated from all 20 loci combined was 0. 999998. None of Y-STR allele mutation was observed in the 30 father/ son pairs confirmed by autosomal STR analysis. Conclusion The results indicate that the 20 Y-STR loci are highly polymorphic and fathership genealogy inheritance are stable. The three fluorescence-labeled multiplex amplification systems that we constructed are suitable for forensic individual identification and paternity testing in Chaoshan area.