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克罗地亚人群中HLA - A、- B、- DRB1、- DQA1和- DQB1单倍型的多态性

Polymorphism of HLA-A, -B, -DRB1, -DQA1 and -DQB1 haplotypes in a Croatian population.

作者信息

Grubić Z, Zunec R, Cecuk-Jelicić E, Kerhin-Brkljacić V, Kastelan A

机构信息

National Referral Organ Transplantation and Tissue Typing Center, University Hospital Zagreb, Croatia.

出版信息

Eur J Immunogenet. 2000 Feb;27(1):47-51. doi: 10.1046/j.1365-2370.2000.00193.x.

Abstract

We describe for the first time extended haplotypes in a Croatian population. The present study gives the HLA-A, -B, -DRB1, -DQA1 and -DQB1 allele and haplotype frequencies in 105 families with at least two offspring. All individuals were studied by conventional serology for HLA class I antigens (A and B), while class II alleles (DRB1, DQA1, DQB1) were typed using the PCR-SSOP method. HLA genotyping was performed by segregation in all 105 families. For extended haplotype analysis, 420 independent parental haplotypes were included. Fourteen HLA-A, 18 HLA-B, 28 DRB1, 9 DQA1 and 11 DQB1 alleles were found in the studied population. Most of the DRB1 alleles in our population had an exclusive association with one specific DQA1-DQB1 combination. This strong linkage disequilibrium within the HLA class II region is often extended to the HLA-B locus. A total of 10 HLA-A, -B, -DRB1, -DQA1, -DQB1 haplotypes were observed with a frequency </= 1.0%. The three most frequent haplotypes were HLA-A1, B8, DRB10301, DQA10501, DQB10201; HLA-A3, B7, DRB11501, DQA10102, DQB10602 and HLA-A24, B44, DRB10701, DQA10201, DQB1*02. These results should provide a useful reference for further anthropological studies, transplantation studies, and studies of associations between HLA and diseases.

摘要

我们首次描述了克罗地亚人群中的扩展单倍型。本研究给出了105个至少有两个后代的家庭中HLA - A、- B、- DRB1、- DQA1和- DQB1等位基因及单倍型频率。所有个体均通过传统血清学方法检测HLA I类抗原(A和B),而II类等位基因(DRB1、DQA1、DQB1)则采用PCR - SSOP方法分型。在所有105个家庭中通过系谱分析进行HLA基因分型。为进行扩展单倍型分析,纳入了420个独立的亲代单倍型。在所研究的人群中发现了14个HLA - A、18个HLA - B、28个DRB1、9个DQA1和11个DQB1等位基因。我们人群中的大多数DRB1等位基因与一种特定的DQA1 - DQB1组合存在排他性关联。HLA II类区域内这种强烈的连锁不平衡常常延伸至HLA - B位点。共观察到10种HLA - A、- B、- DRB1、- DQA1、- DQB1单倍型,其频率≤1.0%。三种最常见的单倍型为HLA - A1、B8、DRB10301、DQA10501、DQB10201;HLA - A3、B7、DRB11501、DQA10102、DQB10602以及HLA - A24、B44、DRB10701、DQA10201、DQB1*02。这些结果应为进一步的人类学研究、移植研究以及HLA与疾病关联研究提供有用的参考。

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