中国输血杂志2012，Vol.25Issue(12)：1262-1267,6.
4082名上海骨髓库汉族无关供者HLA-A、B、DRB1高分辨等位基因及单体型多态性研究
Polymorphism analysis of HLA-A ,-B ,-DRB1 alleles and haplotypes at high-resolution level in 4082 Han unrelated donors from marrow donor program registry of Shanghai
杨剑豪 1刘嬿 1郑皆炜 1谢军华 1孙瑛 1姜跃琴 1唐晴钧 1杜可明1
作者信息
摘要
Abstract
Objective To analyze the distribution of HLA-A,B,and DRB1 high-resolution alleles and haplotype fre-quencies in Shanghai Han population. Methods Polymerase-chain-reaction ( PCR) sequence-based-typing ( SBT) meth-ods were used to genotype HLA-A,-B,and -DRB1 alleles of 4 082 randomly selected,unrelated and healthy Han people in Shanghai branch of China Marrow Donor Program (CMDP) registry,and haplotype frequencies were estimated using count-ing and maximum-likelihood method. Results A total of 204 HLA alleles were observed and the most frequent alleles ( > 0. 1)were,A* 11:01 ,A*24:02,A* 02= 01 ,B*46:01 .DSB1* 09:01,and DRB1 * 15:01. Among the 841 HLA-A/B two loci haplotypes, 17 had a frequency over 0.01,70 showed significant positive linkage disequilibrium (ALD >0,HF≥3. 67× 10-4 ,x2 >3. 84). Moreover, 12 of the 1 027 HLA-B/DRB1 haplotypes identified had a frequency over 0. 01,99 showed sig-nificant positive linkage disequilibrium (ALD >0,HF≥3. 67×10-4 ,x2 >3. 84). In addition,681 of the 3 344 HLA-A-B-DRB1 haplotypes identified had a frequency over 3. 67×10-4,135 had a frequency over 0. 001. Conclusion The HLA-A, B and DRB1 allele frequencies and haplotype structure of the Shanghai Han population has their own characteristics. The re-sults of the study provides useful information for transplant donor selection,formulation of the Chinese Han population CWD alleles,estimation of optimal bone marrow registry size and general human genetics studies.关键词
HLA-A/B/DRB1/高分辨基因分型/等位基因频率/单体型频率Key words
HLA-A/B/DRB1/High-resolution genotyping/Allele/haplotype frequency分类
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杨剑豪,刘嬿,郑皆炜,谢军华,孙瑛,姜跃琴,唐晴钧,杜可明..4082名上海骨髓库汉族无关供者HLA-A、B、DRB1高分辨等位基因及单体型多态性研究[J].中国输血杂志,2012,25(12):1262-1267,6.
