Y染色体特异短串联重复序列初步研究  

A preliminary study of human Y chromosome specific short tandem repeat loci

作　　者：侯一平[1,2,3] 吴谨[1,2,3] 李英碧[1,2,3] 张霁 张思仲[1,2,3] 褚嘉佑 

机构地区：[1]华西医科大学法医学系 [2]医学遗传学教研室 [3]中国医学科学院医学生物学研究所

出　　处：《中华医学遗传学杂志》1999年第2期65-69,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金;美国纽约中华医学基金;四川省科技攻关项目

摘　　要：目的了解人类Ｙ染色体特异短串联重复序列等位片段结构特征，揭示成都汉族群体５个Ｙ染色体特异ＳＴＲ基因座的遗传多态性。方法无血缘关系样本采自成都地区汉族群体。ＰＣＲ扩增５个Ｙ染色体特异ＳＴＲ基因座。ＰＣＲ产物由非变性聚丙烯酰胺凝胶不连续缓冲系统水平电泳分型和自动激光荧光测序仪分析。结果观察到人类Ｙ染色体特异ＳＴＲ等位片段具有复杂的串联重复结构。制备了５个Ｙ染色体特异ＳＴＲ基因座分型标准物用于分型。观察到我国人群５个Ｙ染色体特异ＳＴＲ基因座均具有遗传多态性。获得了成都汉族群体５个Ｙ染色体特异ＳＴＲ基因座的等位基因频率。结论本研究为群体遗传亲缘关系分析提供了高效遗传标记，为研究我国人群Ｙ染色体特异ＳＴＲ的群体遗传提供了具有可比性的资料。Objective To understand the allele structure and reveal genetic polymorphism of Y chromosome specific short tandem repeat (Y specific STR) loci in Chinese Han population. Methods The authors used a set of five Y specific STR loci which were tetrameric tandem repeat loci chosen from the Genome Database. EDTA blood specimens were collected from the unrelated individuals. DNA was extracted by Chelex method and amplified by the polymerase chain reaction(PCR). The PCR products were analyzed using both the PAGE horizontal electrophoresis with discontinuous buffer system and the automated fluorescence detection approach. Results The authors observed that the alleles at the five Y specific STR loci were composed of some complex repeat structures. They successfully prepared a set of human allele ladders for the typing of the five Y specific STRs and demonstrated the polymorphisms at the five Y specific STR loci in Chinese Han population. Conclusion Y specific STRs are good genetic markers for the purpose of analysis of genetic relationship between populations. This preliminary study not only reveals allele frequencies and haplotype distribution of Y specific STR in Chinese Han population, but also indicates a reference population for detecting male migration events and for reconstructing paternal history.

关 键 词：遗传多态性 短串联重复序列 Y染色体 群体遗传 

分 类 号：Q987[生物学—遗传学] Q347[生物学—人类学]