湖北土家族人群HLA-A、B等位基因及单倍型多态性的分布  

Distribution of HLA-A,-B allele and haplotype polymorphism in the Tu nationality of Hubei province in China

作　　者：邱小萍[1] 谭云[1] 左泽华[1] 魏芸[1] 伍欣星[1] 

机构地区：[1]武汉大学医学院病毒研究所分子病毒室,430071

出　　处：《中华医学遗传学杂志》2006年第2期219-221,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(30171042)~~

摘　　要：目的研究湖北五峰县土家族190名无亲缘关系健康个体HLA-A、B等位基因及单倍型频率的分布,为进一步研究HLA基因多态性与疾病的关联奠定基础。方法采用序列分型(sequence-basedtyping,SBT)法对最具多态性的HLA-A、B基因2、3外显子进行了基因型分析,采用Arlequin软件对群体基因、单倍型频率进行最大估计值的计算。结果HLA-A、B等位基因符合Hardy-Weinberg平衡定律(P>0·05),无显著的连锁不平衡现象,共检测出26个HLA-A等位基因及41个HLA-B等位基因,其中频率最高的为A*0201(0.16053),A*110101(0.14737),A*24020101(0.14211),B*4001(0.14737),B*4601(0·13947),其次为A*0207(0.08947),A*0206(0.08158),B*1301(0.07632),B*5801(0.08947),B*1501(0·09737),而大于0.05%的为A*330301(0.05526),B*1502(0.05526),B*3501(0.05263),单倍型分布较普遍的为A*0202-B*4001(0.04196),A*0201-B*4601(0.03625)。结论采用高分辨测序分型法对土家族人群HLA-A、B等位基因进行分型的实验结果可做为湖北土家族人HLA-A、B等位基因、单倍型频率的群体资料,对进一步开展群体遗传学、临床器官移植、疾病关联、HLA遗传学特征、法医学、人类学等研究具有重要意义。Objective To investigate the genetic diversity in Chinese populations, And HLA-A,-B alleles and haplotypes of 190 unrelated healthy individuals of Tu nationality from Wufeng county Hubei province were identified for the associated studies of HLA gene polymorphism and disease. Methods The high-resolution typing methods-sequence-based typing （SBT） was used to define the most polymorphism of exons 2 and 3 of the HIA-A,-B locus alleles. The allele and haplotype frequencies were calculated by maximum likelihood estimation with Arlequin software. Results HIA-A,-B alleles were found to be in Hardy-Weinberg equilibrium （P〉0.05）. A total of 26 HLA-A and 41 HLA-B alleles were detected. The most frequent alleles were A ＊ 0201 （0. 16053）, A ＊ 110101 （0. 14737）, A ＊ 24020101（0.14211）, B ＊ 4001（0. 14737）, B ＊ 4601（0. 13947）, followed by A ＊ 0207（0.08947）, A ＊ 0206 （0.08158）, B ＊ 1301（0.07632）, B ＊ 5801（0.08947）, B ＊ 1501 （0.09737）. Tne frequencies of following alleles to be A ＊ 330301 （0.05526）, B ＊ 1502 （0. 05526 ）, B ＊ 3501 （ 0.05263 ） were all higher than 0.05. The extensive HLA-A- B haplotypes were observed, and the most common haplotypes were A ＊ 0202-B ＊ 4001（0.04196）, A ＊ 0201-B ＊ 4（301 （0.03625）. Conclsusion In the present study, we first analyzed the HLA-A,BgenetypingwithSBT, all of these resuits will be the basic and reference data for Tu race, and also will have the applications available to trace the population migration, clinical organ transplantation, disease-asssociated study, HLA genetic feature and forensic identification.

关 键 词：土家族 人白细胞抗原 单倍型 遗传多态性 

分 类 号：R394[医药卫生—医学遗传学]