Polymorphic insertions in 5 Alu loci within the major histocompatibility complex class I region and their linkage disequilibria with HLA alleles in four distinct populations in mainland China
Polymorphic insertions in 5 Alu loci within the major histocompatibility complex class I region and their linkage disequilibria with HLA alleles in four distinct populations in mainland China
复制标题
中国大陆四个不同人群中主要组织相容性复合体 I 类区域内 5 个 Alu 位点的多态性插入及其与 HLA 等位基因的连锁不平衡。
DOI：
10.1111/j.1399-0039.2008.01152.x
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发表时间：
2008-12-01
期刊：
影响因子：
--
通讯作者：
Li, L. X.
中科院分区：
文献类型：
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作者：
Tian, W.;Wang, F.;Li, L. X.
在这项研究中，我们调查了位于人类主要组织相容性复合体（MHC）I类区域的5个多态性Alu基因座，来自4个不同的中国人群的445个个体：本研究对湖南汉族、内蒙古汉族、内蒙古蒙古族和广东汉族人群的Alu插入与人类白细胞抗原（HLA）-A的连锁不平衡（LD）进行了研究，中国南方（湖南省）和北方（内蒙古自治区）汉族人群的Cw和B基因座。结果表明：（a）Alu和HLA-A基因座的等位基因和单倍型频率在中国南方两个汉族群体间差异不显著，在中国北方两个汉族群体间具有显著的同质性：（B）Alu插入单倍型中，HLA-A*02的插入率最高，HLA-A*02的插入率最高;（c）在四个群体中，单倍型HlyHF插入-HLA-A *26、HlyHG插入-HLA-A *02和HlyHJ插入-HLA-A *24处于显著LD，并且（d）单倍型HlyMICB插入-HLA-Cw *06在两个群体中处于显著LD，而HLA-B插入-HLA-B*54和HLA-B插入-HLA-B*48单倍型仅在湖南和内蒙古汉族人群中存在显著的LD。HLA-B*48-MICA基因缺失-MICB插入的单倍型在后一人群中的频率约为3.85%。我们的数据，加上以前的报告，对几个亚洲-大洋洲的人口表明身份的几个常见的HLA-A等位基因谱系在这些现代人群的血统。这项研究中发现的新的人群特异性LD模式也为HLA进化和单倍型起源提供了新的见解。
In this study, we investigated the five polymorphic Alu loci located within human major histocompatibility complex (MHC) class I region in 445 individuals from four distinct Chinese populations: Hunan Han, Inner Mongolia Han, Inner Mongolia Mongol and Guangdong Han populations, with an emphasis on the linkage disequilibrium (LD) between Alu insertions and human leukocyte antigen (HLA)-A, Cw and B loci in a southern (Hunan Province) and a northern (Inner Mongolia Autonomous Region) Chinese Han population. Our data showed that (a) the allele and haplotype frequencies of Alu and HLA-A loci did not differ significantly between the two southern Chinese Han populations and showed remarkable homogeneity in the two northern Chinese populations; (b) AluyHG had the highest insertion rate and HLA-A*02 harboring the single AluyHG insertion was most frequent among Alu insertion-bearing haplotypes in all four populations; (c) haplotypes AluyHF insertion-HLA-A*26, AluyHG insertion-HLA-A*02 and AluyHJ insertion-HLA-A*24 were in significant LD across the four groups and (d) haplotype AluyMICB insertion-HLA-Cw*06 was in significant LD in both populations, while significant LD of haplotypes AluyMICB insertion-HLA-B*54 and AluyMICB insertion-HLA-B*48 was only observed in the Hunan Han population and the Inner Mongolia Han population, respectively. Haplotype HLA-B*48-MICA gene deletion-AluyMICB insertion was observed at a frequency of about 3.85% in the latter population. Our data, together with previous reports on several Asian-Oceanian populations suggest the identity by descent of several common HLA-A allelic lineages in these modern human populations. The novel population-specific LD patterns uncovered in this study also shed new insight into HLA evolution and haplotype origin.