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希腊人群中HLA - DR2等位基因和单倍型的多态性及分布

Polymorphism and distribution of HLA-DR2 alleles and haplotypes in a Greek population.

作者信息

Constantinidou N, Chaidaroglou A, Van den Berg-Loonen E M, Koniavitou K

机构信息

Aghia Sophia Children's Hospital, Department of Immunology-Histocompatibility, Athens, Greece.

出版信息

Tissue Antigens. 1998 Aug;52(2):153-7. doi: 10.1111/j.1399-0039.1998.tb02279.x.

DOI:10.1111/j.1399-0039.1998.tb02279.x
PMID:9756404
Abstract

HLA-DR2 serological subtyping has indicated that the DR16 serotype appears at a higher frequency relative to the DR15 serotype in the Greek population, differing from the distribution observed in most other Caucasian groups. In this study, we have analyzed by the PCR-SSP technique a DR2-positive group of unrelated Greek individuals selected from our normal control panel for the different DRB1, DRB5, DQB1 and DQA1 DR2-associated alleles present. Six of the 50 individuals analyzed were homozygous for DR2, contributing a total of 56 haplotypes for DR2. The observed frequencies of the DR2-related DRB1 alleles were as follows: 58.9% for the DRB11601, 7.1% for the DRB11602, 25.0% for the DRB11501 and 7.1 % for the DRB11502 allele. The rare allele DRB11605 was detected in one heterozygous sample and its presence was definitively established by DNA sequencing. The alleles 1503, 1504, 1505, 1603 and 1604 were not detected. Three DRB5 alleles were identified: DRB50202 (67.8%), DRB50101 (25.0%) and DRB50102 (7.1%). Ten different DRB1/DQB1/ DQA1 DR2-associated haplotypes were defined. The most frequently observed haplotype was DRB11601-DQB10502-DQA10102 (relative frequency=57%) followed by DRB11501-DQB10602-DQA10102 (relative frequency=14.3%). In conclusion, the refined analysis of the DR2-associated DRB1 alleles in the Greek population revealed the prevalence of the DRB11601 allele. The rare allele DRB1*1605 was demonstrated once. A considerable variety of different DR2-related DR/DQ haplotypes was detected and the overall haplotypic frequencies in the Greek population are distributed differently compared to those reported for most other Caucasian populations.

摘要

HLA - DR2血清学分型表明,在希腊人群中,DR16血清型出现的频率相对于DR15血清型更高,这与在大多数其他高加索人群中观察到的分布情况不同。在本研究中,我们采用PCR - SSP技术,对从我们的正常对照样本中挑选出的一组DR2阳性的希腊无关个体进行分析,检测其中存在的不同DRB1、DRB5、DQB1和DQA1 DR2相关等位基因。在分析的50个个体中,有6个为DR2纯合子,共提供了56个DR2单倍型。观察到的与DR2相关的DRB1等位基因频率如下:DRB11601为58.9%,DRB11602为7.1%,DRB11501为25.0%,DRB11502为7.1%。在一个杂合样本中检测到罕见等位基因DRB11605,并通过DNA测序明确证实了其存在。未检测到1503、1504、1505、1603和1604等位基因。鉴定出三个DRB5等位基因:DRB50202(67.8%)、DRB50101(25.0%)和DRB50102(7.1%)。定义了十种不同的DRB1/DQB1/DQA1 DR2相关单倍型。观察到的最常见单倍型是DRB11601 - DQB10502 - DQA10102(相对频率 = 57%),其次是DRB11501 - DQB10602 - DQA10102(相对频率 = 14.3%)。总之,对希腊人群中与DR2相关的DRB1等位基因的精细分析揭示了DRB11601等位基因的普遍性。罕见等位基因DRB1*1605仅被检测到一次。检测到相当多种不同的与DR2相关的DR/DQ单倍型,并且希腊人群中的总体单倍型频率分布与大多数其他高加索人群报告的情况不同。

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