云南地区人群HLA-A、B、DRB1等位基因遗传多态性的分析  

Analysis of the Genetic Polymorphism of HLA-A,B,DRB1 Alleles in Chinese Marrow Donor Program Registries from Yunnan Province Branch

作　　者：朱祥明[1] 杨通汉[1] 姚富柱[1] 赵杨[1] 苏品璨[1] 汤戎[1] 罗臻[1] 郭萍[1] 涂源泉[1] 李开红[1] 姚杰[1] 

机构地区：[1]云南昆明血液中心输血研究室,650106

出　　处：《临床输血与检验》2011年第1期5-10,共6页Journal of Clinical Transfusion and Laboratory Medicine

基　　金：昆明市科技局基金支持(No.昆明科社字06S115140)资助

摘　　要：目的了解中国造血干细胞捐献者资料库云南省分库HLA-A、B、DRB1基因多态性,分析云南地区人群HLA-A、B、DRB1等位基因频率特征。方法采用流式序列特异性寡核苷酸探针(PCR-sequence specific oligonucleotide probes,PCR-SSOP)结合直接测序法(PCR-sequence based typing,PCR-SBT)方法,对来自中国造血干细胞捐献者资料库云南分库的1 000名无血缘关系的捐献者进行基因分型,运用方根法计算HLA-A、B、DRB1基因频率,并与其他人群进行比较。结果在云南地区人群中共检出68种HLA基因特异型。其中HLA-A位点18个,HLA-B位点37个,HLA-DR位点13个。A*11(34.66%)、A*02(34.2%)和A*24(19.63%)3个等位基因为云南分库捐献者HLA-A座位的主要等位基因;B*46(12.83%)、B*40(60)(10.9%)和B*15(62)(9.78%)为HLA-B座位的主要等位基因;HLA-DRB1座位以DRB1*12(16.7%)、DRB1*15(16.46%)、DRB1*09(13.46%)和DRB1*04(12.77%)4个等位基因频率为高。最常见的A-B-DRB1单倍型是A*02-B*46-DRB1*09,频率是3.76%。结论云南地区人群的HLA基因多态性与南方汉族接近,但有其自身的一些特点。有必要在本地区开展造血干细胞捐献者的招募工作。Objective To investigate the genetic polymorphism of HLA-A,B,DRB1 alleles in Chinese Marrow Donor Program（CMDP） Registries from Yunnan Branch and to analyze the characteristic of the allele frequency distribution.Methods The technique of flow polymerase chain reaction-sequence specific oligonucleotide probes（PCR-SSOP） and PCR-sequence based typing（PCR-SBT） methods were adopted in genotyping the samples of 1 000 unrelated individuals collected from Yunnan,China.The allele frequency of HLA-A,B,DRB1 was calculated,and the allele frequency distribution of HLA-A,B,DRB1 in this population was compared with the results from various regions.Results Sixty-eight HLA specifical alleles were found in Yunnan population.The numbers of identified alleles were 18 for HLA-A,37 for HLA-B,13 for HLA-DR,respectively.The most frequent HLA-A alleles were A＊11（34.66%）,A＊02（34.2%） and A＊24（19.63%）.For the HLA-B locus,the most common in descending order were B＊46（12.83%）,B＊40（60）（10.9%） and B＊15（62）（9.78%）.For the HLA class-Ⅱ loci,DRB1＊12（16.7%）,DRB1＊15（16.46%）,DRB1＊09（13.46%） and DRB1＊04（12.77%） were the most frequent DRB1 alleles.The most HLA-A-B-DRB1 haplotype was A＊02-B＊46-DRB1＊09 with a haplotype frequency of 3.76%.Conclusion Distribution of the allele polymorphism of HLA in Yunnan population is similar to that in Southern Han population,and it exhibits its own characteristic.It is necessary to recruit the Chinese Marrow Donors in Yunnan.

关 键 词：人类白细胞抗原 等位基因频率 遗传多态性 单体型 

分 类 号：R457.11[医药卫生—治疗学]