新疆维、哈、蒙古族-HTT基因启动子区多态性的研究

采用聚合酶链反应(PCR)技术,对我国新疆维吾尔族、哈萨克族和蒙古族三个正常群体5-HTT基因启动子区(5-HTTLPR)的一个插入/缺失多态性进行了研究。结果显示:5-HTTLPR等位基因及基因型频率分布在三个民族中没有较大差异,短片段等位基因S有较高的分布频率。X2检验证明,三个民族群体的基因型分布均符合Hardy-Weinberg平衡(P>0.05)。经分析,维吾尔族的观测杂合度(Hobs)、期望杂合度(Hexp)、多态信息量(PIC)分别为0.4167、0.4845和0.3759;哈萨克族的Hobs、Hexp和PIC分别为0.4141、0.4338和0.3396;蒙古族的Hobs、Hexp和PIC分别为0.4639、0.4386和0.3425。结果可为人类学、法医学鉴定及疾病的关联研究提供遗传学数据。

A Study of the Serotonin Transporter-linked Promoter Region Polymorphism in Xinjiang Uygur, Kazak, and Mongol Ethnic Group

The insertion/deletion polymorphism of the serotonin transporter-linked promoter region((5-HTTLPR)) was studied using the polymerase chain reaction(PCR) method in Xinjiang Uygur,Kazak,and Mongol ethnic groups.The results showed that there were no significant differencies in the distributions of the 5-HTTLPR genotype and allele frequencies among the three ehhnic groups.It should be noted that the short allele S had a higher frequency.X~2 tests indicated that their distribution of genotypes was consistent with the Hardy-Weinberg equillibrium(P>0.05).Statistical analysis gave the results: Observed heterozygosity(Hobs),expected heterozygosity(Hexp) and polymorphism information of 5-HTTLPR from the Uygur ethnic group were 0.4167,0.4845 and 0.3759;and those from Kazak ethnic group were 0.4141,0.4338 and 0.3396;and those from Mongol ethnic group were 0.4639,0.4386 and 0.3425.These results provide important group genetics information for forensic identification,anthropological and disease association studies.