Allele polymorphism and haplotype diversity of HLA-A, -B and -DRB1 loci in sequence-based typing for Chinese Uyghur ethnic group.
Allele polymorphism and haplotype diversity of HLA-A, -B and -DRB1 loci in sequence-based typing for Chinese Uyghur ethnic group.
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DOI：
10.1371/journal.pone.0013458
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发表时间：
2010-11-04
期刊：
影响因子：
3.7
通讯作者：
Zhang JJ
中科院分区：
文献类型：
--
作者：
Shen CM;Zhu BF;Deng YJ;Ye SH;Yan JW;Yang G;Wang HD;Qin HX;Huang QZ;Zhang JJ
以往的研究表明，HLA等位基因和单倍型的频率分布在不同种族之间或同一种族不同地理区域的成员之间存在差异。研究HLA基因座在不同人群中的高分辨等位基因和单倍型分布是必要的，也是有意义的。首次报道了应用聚合酶链反应-序列分型法对维吾尔族人群进行高分辨HLA分型。对104名维吾尔族健康无关个体进行了HLA-A、-B和-DRB 1等位基因的检测，并采用最大似然法估计了HLA基因座的单倍型频率和连锁不平衡参数。在4位数水平上共检测到35个HLA-A、51个HLA-B和33个HLA-DRB 1等位基因。HLA-A*1101为高频等位基因（13.46%），A*0201 HLA-B *5101（8.17%）、B*3501（6.73%）、B * 5001（6.25%）; HLA-DRB 1 *0701（16.35%）、DRB 1 *1501（8.65%）、DRB 1 *0301（7.69%）。频率最高的两位点单倍型为HLA-A*3001-B*1302（2.88%）、A*2402-B*5101（2.86%）、HLA-B*5001-DRB 1 *0701（4.14%）和B*0702-DRB 1 *1501（3.37%）。HLA-A*3001-B*1302-DRB 1 *0701单倍型频率最高（2.40%）。在6个双位点单倍型中观察到显著的连锁不平衡，其相应的相对连锁不平衡参数等于1。根据HLA-A、HLA-B和HLA-DRB 1位点的4位序列水平等位基因频率计算群体间的标准遗传距离，构建维吾尔族与其他已报道群体的邻接系统发育树。系统发育分析表明，维吾尔族属于中国西北部人群，与锡伯族的亲缘关系最近，其次是柯尔克孜族、回族、蒙古族和北方汉族。本研究结果有助于阐明该人群的遗传背景，并为临床骨髓移植HLA配型、HLA连锁疾病相关性研究、群体遗传学、人类身份鉴定和法医学亲子鉴定提供有价值的资料。
Previous studies indicate that the frequency distributions of HLA alleles and haplotypes vary from one ethnic group to another or between the members of the same ethnic group living in different geographic areas. It is necessary and meaningful to study the high-resolution allelic and haplotypic distributions of HLA loci in different groups. High-resolution HLA typing for the Uyghur ethnic minority group using polymerase chain reaction-sequence-based-typing method was first reported. HLA-A, -B and -DRB1 allelic distributions were determined in 104 unrelated healthy Uyghur individuals and haplotypic frequencies and linkage disequilibrium parameters for HLA loci were estimated using the maximum-likelihood method. A total of 35 HLA-A, 51 HLA-B and 33 HLA-DRB1 alleles were identified at the four-digit level in the population. High frequency alleles were HLA-A*1101 (13.46%), A*0201 (12.50%), A*0301 (10.10%); HLA-B*5101(8.17%), B*3501(6.73%), B*5001 (6.25%); HLA-DRB1*0701 (16.35%), DRB1*1501 (8.65%) and DRB1*0301 (7.69%). The two-locus haplotypes at the highest frequency were HLA-A*3001-B*1302 (2.88%), A*2402-B*5101 (2.86%); HLA-B*5001-DRB1*0701 (4.14%) and B*0702-DRB1*1501 (3.37%). The three-locus haplotype at the highest frequency was HLA-A*3001-B*1302-DRB1*0701(2.40%). Significantly high linkage disequilibrium was observed in six two-locus haplotypes, with their corresponding relative linkage disequilibrium parameters equal to 1. Neighbor-joining phylogenetic tree between the Uyghur group and other previously reported populations was constructed on the basis of standard genetic distances among the populations calculated using the four-digit sequence-level allelic frequencies at HLA-A, HLA-B and HLA-DRB1 loci. The phylogenetic analyses reveal that the Uyghur group belongs to the northwestern Chinese populations and is most closely related to the Xibe group, and then to Kirgiz, Hui, Mongolian and Northern Han. The present findings could be useful to elucidate the genetic background of the population and to provide valuable data for HLA matching in clinical bone marrow transplantation, HLA-linked disease-association studies, population genetics, human identification and paternity tests in forensic sciences.
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