泰国东北部民族的人类白细胞抗原I类和II类等位基因及单倍型

HLA class I and II alleles and haplotypes in ethnic Northeast Thais.

作者信息

Romphruk A V, Romphruk A, Kongmaroeng C, Klumkrathok K, Paupairoj C, Leelayuwat C

机构信息

Blood Transfusion Center, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.

出版信息

Tissue Antigens. 2010 Jun;75(6):701-11. doi: 10.1111/j.1399-0039.2010.01448.x. Epub 2010 Feb 11.

DOI:10.1111/j.1399-0039.2010.01448.x

PMID:20230525

Abstract

Allele frequencies (AFs) and haplotypic associations of human leukocyte antigen (HLA) class I and II were investigated in 400 unrelated, healthy, ethnic Northeast Thais. HLA-A, -B, -Cw, -DRB1 and -DQB1 were typed by polymerase chain reaction-sequence specific primer, -sequence specific oligonucleotide probe and -single-strand conformation polymorphism methods. In this population, 17 HLA-A, 26 HLA-B, 15 HLA-Cw, 26 HLA-DRB1 and 13 HLA-DQB1 alleles (or groups of alleles) were found. AFs > 10% included A11 (23.3%), 24 (18.8%), 0207 (14.4%), 33 (11.5%), 0203 (10.6%); B4601 (13.9%); Cw07(01-03) (18.5%), 01 (15.9%), 04 (12.0%), 0304 (10.6%); DRB11502 (18.5%), 1202 (13.4%); DQB10502 (20.3%), 0501 (16.3%), 0301 (14.1%) and 02 (10.9%). The most common of 2-locus haplotypes included A0207-B4601 (9.3%), B4601-Cw01 (13.5%), B5801-DRB10301 (5.8%) and DRB11502-DQB10501 (14.1%). Of the 49 five-locus HLA haplotypes identified, 24 were confirmed in 31 family studies: the most common being; A33-Cw0302-B5801-DRB10301-DQB102 (4.6%), A0207-Cw01-B4601-DRB109-DQB10303 (3.4%) and A33-Cw07(01-03)-B44-DRB107-DQB102 (2.6%). Apparently, the HLA-B46-carrying haplotype is fragmented in ethnic Northeast Thais, including seven haplotypes with different HLA-A and HLA-DR/DQ combinations. One of these haplotypes (A11-Cw01-B4601-DRB11202-DQB10502) has not been reported in other Asians. The results indicated that there were marked differences in the distribution of HLA alleles and haplotypes between ethnic Northeast Thais and other ethnic groups in Southeast and East Asia. These results also dictate that future studies of HLA alleles and diseases need precise identification of ethnically and geographically matched controls. The HLA allele and haplotype analyses in this large sample provide baseline information on ethnic Northeast Thais for anthropological studies and for determining HLA allele/haplotype frequencies when searching for HLA-compatible donors for unrelated bone marrow transplantation.

摘要

在400名无亲缘关系、健康的泰国东北部少数民族中，对人类白细胞抗原（HLA）Ⅰ类和Ⅱ类的等位基因频率（AFs）及单倍型关联进行了研究。采用聚合酶链反应-序列特异性引物、序列特异性寡核苷酸探针和单链构象多态性方法对HLA-A、-B、-Cw、-DRB1和-DQB1进行分型。在该人群中，发现了17个HLA-A、26个HLA-B、15个HLA-Cw、26个HLA-DRB1和13个HLA-DQB1等位基因（或等位基因组）。AFs>10%的包括A11（23.3%）、24（18.8%）、0207（14.4%）、33（11.5%）、0203（10.6%）；B4601（13.9%）；Cw07(01 - 03)（18.5%）、01（15.9%）、04（12.0%）、0304（10.6%）；DRB11502（18.5%）、1202（13.4%）；DQB10502（20.3%）、0501（16.3%）、0301（14.1%）和02（10.9%）。最常见的两位点单倍型包括A0207 - B4601（9.3%）、B4601 - Cw01（13.5%）、B5801 - DRB10301（5.8%）和DRB11502 - DQB10501（14.1%）。在鉴定出的49种五位点HLA单倍型中，24种在31个家系研究中得到证实：最常见的是；A33 - Cw0302 - B5801 - DRB10301 - DQB102（4.6%）、A0207 - Cw01 - B4601 - DRB109 - DQB10303（3.4%）和A33 - Cw07(01 - 03) - B44 - DRB107 - DQB102（2.6%）。显然，携带HLA - B46的单倍型在泰国东北部少数民族中是分散的，包括七种具有不同HLA - A和HLA - DR/DQ组合的单倍型。这些单倍型之一（A11 - Cw01 - B4601 - DRB11202 - DQB10502）在其他亚洲人群中尚未见报道。结果表明，泰国东北部少数民族与东南亚和东亚其他民族在HLA等位基因和单倍型分布上存在显著差异。这些结果还表明，未来关于HLA等位基因与疾病的研究需要精确鉴定种族和地理匹配的对照。对这个大样本的HLA等位基因和单倍型分析为人类学研究以及在寻找无关骨髓移植的HLA匹配供体时确定HLA等位基因/单倍型频率提供了泰国东北部少数民族的基线信息。