中国汉族人群人类白细胞抗原DRB1~* 04等位基因多态性

Allelic polymorphism of human leukocyte antigen-DRB1~* 04 in Chinese Han populations

目的研究中国南方和北方汉族人群的人类白细胞抗原(HLA)-DRB1*04等位基因多态性。方法采用PCR-SBT对104名南方和168名北方汉族无偿献血者的HLA-DRB1*04基因做高分辨分型,并采用高分辨PCR-SSP对其中的DRB1*0406/0449模棱两可等位基因做精确分型,进而采用卡方检验对南北方汉族群体的DRB1*04等位基因与其他不同种群的分布情况做比较。结果56个DRB1*0406/0449模棱两可等位基因的分型结果全部为DRB1*0406。南方汉族无偿献血者共检出5种DRB1*04基因,最常见的为DRB1*0405(47.32%)、DRB1*0406(24.24%)和DRB1*0403(16.35%),北方汉族无偿献血者共检出10种DRB1*04等位基因,以DRB1*0405(40.48%)、DRB1*0406(18.45%)和DRB1*0403(17.26%)常见。中国南方、北方汉族人群HLA-DRB1*04等位基因的总体分布格局与高加索人、非裔美国人、西班牙人和亚洲/太平洋岛民存在明显差异,而与韩国人非常接近。结论中国南北汉族人群HLA-DRB1*04等位基因的总体分布格局不同,但主要等位基因DRB1*0405、DRB1*0406和DRB1*0403的分布无明显差异;不同种群的DRB1*04等位基因的分布各具特色。

Objective. To investigate the allelic polymorphism of Human Leukocyte Antigen （HLA）-DRB1^＊04 in Southern and Northern Chinese Hart populations. Method A total of 104 and 168 samples of HLA-DRB1^＊04 alleles from Southern and Northern Chinese Han populations respectively were genotyped at high-resolution by PCR-SBT, and then the DRB1^＊0406/0449 ambiguous allele pairs were identified via high-resolution PCR-SSP. The allelic distribution of DRB1^＊04 in Southern and Northern Chinese Han populations were compared with other different populations by chi-square test. Results All 56 ambiguous allelic pairs of DRB1^＊0406/0449 were identified as DRB1^＊0406. A total of 5 alleles were observed in Southern Chinese Han population and the most frequent alleles were DRB1^＊0405 （47.32%）, DRB1^＊0406 （24. 24% ） and DRB1^＊0403（ 16. 35% ）. There were 10 alleles tested in Northern Chinese Han population, and the major alleles were DRB1^＊0405 （ 40. 48% ）, DRB1^＊0406 （ 18.45% ） and DRB1^＊0403 （ 17.26% ）. The overall distribution of DRB1^＊04 alleles in Southern and Northern Chinese Han differed significantly from that of the Caucasian, African Ameri- can, Hispanic.s, and Asian and Pacific Islanders, but not from the Korean. Conclusions The overall distribution of HLA- DRB1^＊04 alleles differed significantly between Southern and Northern Chinese Han populations, but the major alleles DRB1^＊0405 ,DRB1^＊0406 and I）RB1 ＊ 0403 showed the same distribute characteristic. The distribution of DRB1^＊04 alleles in different populations has their own characteristics.