新疆维吾尔族、哈萨克族人群HLA-DQA1、-DQB1两基因座多态性的研究及与25个种族或民族的比较分析

Polymorohism of HLA-DQA1-DQB1Genes in Uygur and Kazak EthnicGroups and Comprehensive Analysis of 25 Related Populations

应用ＰＣＲ－ＲＦＬＰ基因分型技术，首次对我国新疆地区维吾尔族和哈萨克族２个少数民族群体的ＨＬＡ－ＤＱＡ１、－ＤＱＢ１两个基因座的多态性进行了研究。结果显示，在ＤＱＡ１８个等位基因中，维族和哈族均表现为ＤＱＡ１＊０３０１最常见。最少见的ＤＱＡ１等位基因，在维族中为ＤＱＡ１＊０４０１和＊０６０１，而在哈族中为ＤＱＡ１＊０６０１；在ＤＱＢ１１６个等位基因中，ＤＱＢ１＊０２０１和＊０３０１在维族和哈族中均表现为最常见。在维族中未观察到ＤＱＢ１＊０５０２、＊０５０３２和＊０５０４，在哈族中未观察到ＤＱＢ１＊０５０３２、＊０５０４和＊０６０５等位基因。统计分析表明，维族和哈族ＤＱＡ１、ＤＱＢ１各等位基因的分布无显著性差异，说明维、哈族间具有较密切的亲缘关系。在以２７个种族或民族的ＨＬＡ－ＤＱＡ１、－ＤＱＢ１两基因座基因频率构建的分子系统树上，维族和哈族独立于其他群体而聚类，独处一支。维族和哈族接近蒙古人种，而离高加索人种较远。

HLA-DQA1 and -DQB1 genes were invesdgated in two Chinese minor natinalities. Uygur and Kazak using PCR-RFLP genotyping method. Of the 8 DQA1 alleles, DQA1 0301 was the most common in Uygurs and Kazaks. DQA1 0401 and 0601 were the rarest alleles in Uygurs and 0601 in Kazaks. Of the 16 DQB1 alleles tested, DQB1 0201 and 0301 were the most frequent alleles in Uygurs and Kazaks. DQB1 0502, 05032 and 0504 in Uygurs, 05032, 0504 and 0605 in Kazaks were absent Neither DQA1 nor DQB1 difference was found between the two populations. From the phylogenetic tree based on the gene frequences of HLA-DQA1 and -DQB1 in Uygur, Kazak and other 25 related ethnic groups, we suggest that Uygurs and Kazaks have a closer relationship, and they are closer to Mongoloid, not Caucasoid.