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中国贵州省居民中HLA - A、- B和 - DRB1等位基因及单倍型的分布

The distribution of HLA-A, -B, and -DRB1 alleles and haplotypes in inhabitants of Guizhou Province of China.

作者信息

Pan Qinqin, Fan Su, Wang Xiaoyan, Zhao Xing, Pan Meng, Wang Chengya, Shen Jie

机构信息

HLA Laboratory, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China.

出版信息

J Biomed Res. 2011 Sep;25(5):328-34. doi: 10.1016/S1674-8301(11)60044-4.

Abstract

The present study was aimed to analyze the frequencies of human leukocyte antigen (HLA)-A, -B, and -DRB1 alleles and A-B-DRB1, A-B, A-DRB1 and B-DRB1 haplotypes in inhabitants of Guizhou province, China. All samples were typed in the HLA-A,-B, and -DRB1 loci using the polymerase chain reaction-reverse sequence specific oligonucleotide probe (PCR-rSSOP) method and HLA polymorphisms were analyzed. A total of 18 HLA-A, 31 HLA-B, and 13 HLA-DRB1 alleles were found in the Guizhou population. The first two frequent alleles in the HLA-A, -B, and -DRB1 loci were A11(30.72%) and A02(30.65%), B40(16.27%) and B46(16.27%), and DRB109(15.91%) and DRB115(13.51%), respectively. The most common haplotype was A02-B46-DRB109(5.59%) in A-B-DRB1, A02-B46(11.73%) in A-B, B46-DRB109(7.49%) in B-DRB1, and A02-DRB109(8.08%) in A-DRB1. Some haplotypes with strong linkage disequilibrium (LD) were found not only in the common haplotypes, such as A33-B58, B30-DRB107, and B33-DRB103, but also in the rare haplotypes, such as A01-B37, B37-DRB110, and A01-DRB1*10. Guizhou inhabitants shared some characteristics of the Southern Chinese population but also had their own unique features. Overall, HLA polymorphism in Guizhou population was more consistent with that of Chengdu population than that of other populations in China.

摘要

本研究旨在分析中国贵州省居民中人类白细胞抗原(HLA)-A、-B和-DRB1等位基因以及A-B-DRB1、A-B、A-DRB1和B-DRB1单倍型的频率。所有样本采用聚合酶链反应-反向序列特异性寡核苷酸探针(PCR-rSSOP)方法对HLA-A、-B和-DRB1位点进行分型,并分析HLA多态性。在贵州人群中总共发现了18个HLA-A等位基因、31个HLA-B等位基因和13个HLA-DRB1等位基因。HLA-A、-B和-DRB1位点中前两个常见等位基因分别为A11(30.72%)和A02(30.65%)、B40(16.27%)和B46(16.27%)、DRB109(15.91%)和DRB115(13.51%)。最常见的单倍型在A-B-DRB1中为A02-B46-DRB109(5.59%),在A-B中为A02-B46(11.73%),在B-DRB1中为B46-DRB109(7.49%),在A-DRB1中为A02-DRB109(8.08%)。不仅在常见单倍型中发现了一些具有强连锁不平衡(LD)的单倍型,如A33-B58、B30-DRB107和B33-DRB103,在罕见单倍型中也发现了,如A01-B37、B37-DRB110和A01-DRB1*10。贵州居民具有中国南方人群的一些特征,但也有自身独特之处。总体而言,贵州人群的HLA多态性与成都人群的更为一致,而与中国其他人群不同。

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