陕西籍汉族造血干细胞献血者HLA-A-、B-、DRB1高分辨多态性分析

Polymorphism of high-resolution HLA-A,-B and-DRB1 alleles in Shanxi Chinese Han nationality hemopoietic stem cell donors

目的调查中国陕西籍汉族人群HLA-A-、B-、DRB1高分辨等位基因多态性及其分布特点。方法采用PCR-SBT方法对随机抽取的518名陕西籍汉族人的HLA-A、-B-、DRB1基因作高分辨检测,并用最大似然性方法分析其分布频率。结果在518名中国陕西籍汉族个体中可观察到的高分辨等位基因HLA-A有32个,-B有42个、-DRB1有41个。HLA-A高频等位基因为HLA-A*02(28.38%),以0201、0206和0207最常见;HLA-A*11(21.04%),以1101最常见;HLA-A*24(14.86%),以2402最常见。HLA-B高频等位基因为HLA-B*15(15.06%),以1501、1511、1502最常见;HLA-B*40(13.9%),以4001、4006、4002最常见;HLA-B*13(10.91%),以1302最常见。HLA-DRB1高频等位基因为HLA-DRB1*15(16.70%),以1501最常见;HLA-DRB1*09(12.93%),全部为0901;HLA-DRB1*07(12.45%),全部为0701。HLA-A,-B,-DRB1基因观察到A-B、B-DRB1和A-B-DRB1单体型分别为518条、675条和2 375条,单体型分别占理论数的38.54%(518/1344)、39.20%(675/1 722)和4.31%(2 375/55 104)。HLA-A-B-DR单体型前5位是:A*3001-B*1302-DRB1*0701(4.51%)、A*0207-B*4601-DRB1*0901(1.81%)、A*3303-B*5801-DRB1*0301(1.25%)、A*1101-B*1502-DRB1*1202(1.23%)、A*0101-B*3701-DRB1*1001(1.15%),占全部3座位单体型频率的9.95%。结论陕西汉族基因频率分布符合北方群体特征,但也有其自身的特点。

objective To investigate the polymorphism and distribution characteristics of high-resolution human leukocyte antigen（HLA）-A,B and DRB1 genes in Chinese Han population from Shaanxi.Methods A total of 518 randomly selected Han individuals from Shaanxi were made high-resolution detection by polymerase chain reaction（PCR）sequence based typing（SBT）method for HLA-A,B and DRB1 genes,then the frequencies of alleles were estimated by maximum-like hood estimation.Results 32 HLA-A,42 HLA-B and 41 DRB1 high-resolution alleles in 518 individuals from Han nationality in Shaanxi of China were detected.HLA-A alleles of high frequency were HLA-A＊02（28.38%）,of which the 0201,0206 and 0207 were the most common alleles;HLA-A＊11（21.04%）,of which the 1101 was the most frequent alleles;HLA-A＊24（14.86%）,of which the 2402 was the most common.HLA-B alleles of high frequency were HLA-B＊15（15.06%）,in which the 1501,1511 and 1502 were the most common alleles;HLA-B＊40（12.93%）,in which the 4001,4006 and 4002 were the most common;HLA-B＊13（10.91%）,in which the 1302 was the most common.HLA-DRB1 alleles of high frequency were HLA-DRB1＊15（16.70%）,in which the 1501 was the most common;HLA-DRB1＊09（12.93%）and HLA-DRB1＊07（12.45%）,of which only 0901 and 0701 were detected,respectively.Of the HLA haplotypes,518 kinds of A-B,675 kinds of B-DRB1 and 2375 kinds of A-B-DRB1 haplotypes were observed,amounting 38.54%（518/1 344）,39.20%（675/1 722）and 4.31%（2375/55104）of theoretical haplotypes respectively.The top 5 of HLA-A-B-DRB1 haplotypes were A＊3001-B＊1302-DRB1＊0701,A＊0207-B＊4601-DRB1＊0901,A＊3303-B＊5801-DRB1＊0301,A＊1101-B＊1502-DRB1＊1202,A＊0101-B＊3701-DRB1＊1001,amounting to 9.95% of all 3-loci haplotypes frequencies.Conclusion Gene frequency distribution of Shaanxi Han nationality is in accord with the northern population characteristics.Yet has its own genetic characteristics.