遗传 ›› 2011, Vol. 33 ›› Issue (2): 138-146.doi: 10.3724/SP.J.1005.2011.00138

• 研究报告 • 上一篇    下一篇

中国壮族和裕固族群体HLAⅠ类区域Alu插入多态性及其与HLA-A位点的相关性

史磊, 姚宇峰, 史荔, 陶玉芬, 于亮, 黄小琴, 林克勤, 易文, 孙浩, 杨昭庆, 褚嘉祐   

  1. 中国医学科学院北京协和医学院医学生物学研究所遗传室, 昆明 650118
  • 收稿日期:2010-04-15 修回日期:2010-06-22 出版日期:2011-02-20 发布日期:2011-02-25
  • 通讯作者: 褚嘉祐 E-mail:chujy@imbcams.com.cn
  • 基金资助:

    云南省应用基础研究重点项目(编号: 2008CC021)和国家自然科学基金项目(编号: 30900798)资助

Polymorphic Alu insertions and their associations with HLAⅠalleles in Yugu and Zhuang ethnic populations

SHI Lei, YAO Yu-Feng, SHI Li, TAO Yu-Fen, YU Liang, HUANG Xiao-Qin, LIN Ke-Qin, YI Wen, SUN Hao,  YANG Zhao-Qing, CHU Jia-You   

  1. Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming 650118, China
  • Received:2010-04-15 Revised:2010-06-22 Online:2011-02-20 Published:2011-02-25
  • Contact: Jiayou Chu E-mail:chujy@imbcams.com.cn

摘要: 近年来研究发现: 位于HLAⅠ类基因区域的Alu插入是研究不同群体HLAⅠ类基因区域祖先单倍型和HLAⅠ类基因多样性产生、进化和重组的理想工具。文章对中国壮族和裕固族群体HLAⅠ类基因区域5个Alu插入多态性(AluMICB、AluTF、AluHJ、AluHGAluHF)进行研究, 结合HLA基因分型数据, 分析壮族、裕固族、哈尼族、布朗族和傣族5个民族群体中Alu插入与HLA-A等位基因的关系。研究结果显示: (1)壮族和裕固族人群中5个Alu插入频率范围分别为1.5%~35.8%和9.2~34.8%, AluMICB、AluTFAluHF插入频率在这两个群体中有统计学差异(P<0.05); (2)在5个研究的群体中, AluHG插入与HLA-A*02的不同亚型关联; AluHJ插入与HLA-A*2402在5个群体中都关联, 但AluHJHLA-A*1101HLA-A*2407只在布朗族中关联。表明不同群体HLAⅠ类基因区域内Alu插入具有各自的特征, 且Alu插入与不同的HLA-A等位基因相关联。这种Alu插入及其与HLA-A的关联特征可作为研究群体中HLAⅠ类基因和单倍型系谱变化的重要遗传标记。

关键词: HLAⅠ类基因, Alu插入, 祖先单倍型

Abstract: Many studies have show that the structurally polymorphic Alu insertion within HLA class I region are useful tools for investigating the origin, evolution and recombination of HLA class I progenitor haplotypes and gene diversity in different ethnic populations. In the present study, we determined the frequencies of HLA-Alus (i.e., AluMICB, AluTF, AluHJ, AluHG, and AluHF) in Zhuang and Yugu ethnic populations at first. Then, combined with HLA genotyping data, we studied associations between HLA-Alus and HLA-A alleles in Zhuang, Yugu, Bulang, Dai, and Hani ethnic populations. Our results showed that (1) the frequencies of five HLA-Alus were 1.5%~35.8% and 9.2%~34.8% in Zhuang and Yugu, respectively; and (2) the results of association between HLA-A alleles and HLA-Alu showed strong association between AluHG insertion and HLA-A*02 subtypes in all populations, association between AluHJ insertion and HLA-A*2402 in all populations, and association between AluHJ insertion and HLA-A*1101, -A*2407 in Bulang. The present study suggested that the distribution of HLA-Alus as well as the associations between HLA-Alus and HLA class I alleles are variable in different ethnic populations. HLA Alus alone or together with the HLA class I alleles are informative genetic markers for the identi-fication of HLA class I allele and variation of haplotype lineages in different populations.

Key words: HLA class I gene, Alu insertion, progenitor haplotypes