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利用PCR-RFLP技术分析DRB1、DRB5、DQA1和DQB1基因,研究东南亚、中国北方、美拉尼西亚和澳大利亚原住民群体中的HLA-DR2单倍型多样性。发现一个新的DRB1等位基因:DRB1*16022。

HLA-DR2 haplotypic diversity in populations of South-East Asia, northern China, Melanesia and Australian aborigines using PCR-RFLP for DRB1, DRB5, DQA1 and DQB1. A novel DRB1 allele: DRB1*16022.

作者信息

Trejaut J, Bhatia K, Greville W D, Hu K R, Duraisamy G, Nuchprayoon C, Donald J, Aziz A, Dunckley H

机构信息

Molecular Genetics, Tissue Typing, Red Cross Blood Transfusion Service, Sydney, New South Wales, Australia.

出版信息

Eur J Immunogenet. 1996 Dec;23(6):437-49. doi: 10.1111/j.1744-313x.1996.tb00134.x.

DOI:10.1111/j.1744-313x.1996.tb00134.x
PMID:8971541
Abstract

The polymorphism of the human leucocyte antigen HLA-DR2 and the heterogeneity of HLA-DR2 class II-related haplotypes (HLA-DRB1-DRB5-DQA1-DQB1) were investigated in four populations of east and south-east Asia (SEA) and five Melanesian populations using TaqI restriction fragment length polymorphism (RFLP) analysis, and the polymerase chain reaction (PCR) amplification-based techniques PCR-RFLP and sequence-specific oligonucleotide (SSO) typing. The haplotype DRB11502-DRB50101-DQA10102-DQB10601 was common in Malaysians, Javanese, Thursday Islanders, Madang, Goroka and the Australian Aborigines, while DRB116021-DRB50101-DQA10102-DQB10502 was common in the Thai and Thursday Islanders. DRB11501-DRB50101-DQA10102-DQB10602 was present at a high frequency in Northern Chinese, Goroka, Watut and Australian Aborigines. The study describes four rare or unusual haplotypes: HLA-DRB11501-DRB50101-DQA10101-DQB10601, DRB11502-DRB50101-DQA10101-DQB10502, DRB11502-DRB50102-DQA1* 0102-DQB10502 and DRB11501-DRB50101-DQA10101/2-DQB10503; the latter two were confirmed by segregation in two Javanese families. A new DR2 allele, initially detected by PCR-RFLP and confirmed by DNA sequencing as DRB116022 (previously designated DRB116Madang), was seen in a Madang individual. A new HLA-DR2 TaqI RFLP subtype, locally designated as DR15U, is also described. This RFLP subtype segregated in a Javanese family and correlated with a typically SEA haplotype, DRB11502-DRB50102-DQA10101-DQB10501. The allele HLA-DR16Thai, determined by TaqI DRB RFLP, was found by PCR-RFLP and SSO typing to correlate with a unique SEA haplotype, HLA-DRB116021-DRB50101-DQA10102-DQB1*0502, and was observed in the Thai, Malaysian, Thursday Islander, Javanese and Northern Chinese populations.

摘要

采用TaqI限制性片段长度多态性(RFLP)分析、基于聚合酶链反应(PCR)扩增的技术即PCR-RFLP和序列特异性寡核苷酸(SSO)分型,对东亚和东南亚(SEA)的4个群体以及5个美拉尼西亚群体中的人类白细胞抗原HLA-DR2多态性和HLA-DR2 II类相关单倍型(HLA-DRB1-DRB5-DQA1-DQB1)的异质性进行了研究。单倍型DRB11502-DRB50101-DQA10102-DQB10601在马来西亚人、爪哇人、星期四岛民、马当人、戈罗卡人和澳大利亚原住民中很常见,而DRB116021-DRB50101-DQA10102-DQB10502在泰国人和星期四岛民中很常见。DRB11501-DRB50101-DQA10102-DQB10602在中国北方人、戈罗卡人、瓦图特人和澳大利亚原住民中高频出现。该研究描述了四种罕见或不寻常的单倍型:HLA-DRB11501-DRB50101-DQA10101-DQB10601、DRB11502-DRB50101-DQA10101-DQB10502、DRB11502-DRB50102-DQA1* 0102-DQB10502和DRB11501-DRB50101-DQA10101/2-DQB10503;后两种通过在两个爪哇人家系中的分离得到证实。在一名马当个体中发现了一个新的DR2等位基因,最初通过PCR-RFLP检测到,并经DNA测序确认为DRB116022(以前称为DRB116马当)。还描述了一种新的HLA-DR2 TaqI RFLP亚型,当地命名为DR15U。这种RFLP亚型在一个爪哇人家系中分离,并与一种典型的SEA单倍型DRB11502-DRB50102-DQA10101-DQB10501相关。通过TaqI DRB RFLP确定的等位基因HLA-DR16泰国人,经PCR-RFLP和SSO分型发现与一种独特的SEA单倍型HLA-DRB116021-DRB50101-DQA10102-DQB1*0502相关,并在泰国人、马来西亚人、星期四岛民、爪哇人和中国北方人群体中观察到。

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