甘肃地区汉族人群HLA-B*40组的多态性研究

The polymorphism investigation of HLA-B*40 in Gansu Han population

目的研究中国甘肃汉族人群骨髓供者高分辨的HLA-B*40等位基因的分布特征,探讨其可能对临床供者选择的影响。方法从中华骨髓库甘肃分库随机选取1 909名甘肃汉族骨髓供者,采用聚合酶链反应-碱基序列直接测序(PCR-SBT)方法对其进行HLA-B位点高分辨分型,筛选出504个HLA-B*40阳性标本。结果随机抽取的1 909份样本HLA-B基因分布符合Hardy-Weinberg平衡定律。HLA-B*40基因频率为0.132,总共检出6种HLAB*40,以B*40∶01、B*40∶02、B*40∶06为主,频率分别为0.0686、0.0225、0.0364,累计频率构成比占全部B*40的0.1275,其余3种B*40∶03、B*40∶40、B*40∶78等位基因频率总和<0.01。结论甘肃地区汉族人群中,HLAB*40基因频率的分布偏向于北方人群,符合中国汉族人群分布规律,但有其自身的分布特点。本研究获得了中国甘肃地区汉族人群的B*40高分辨等位基因频率及分布,进一步为人类学、法医学、移植配型和疾病相关研究提供了信息。

Objective To study the distribution character of HLA- B ＊ 40 genes in Gansu Han population from China,and study its effect of clinical donor selection. Methods PCR- SBT genotyping technology was used to detect the HLA- B alleles at high resolution level in 1 909 unrelated health Han individuals randomly selected from Gansu branch of Chinese bone marrow bank. 504 positive HLA- B＊ 40 was screened out from them. Results The gene distribution of HLA- B＊ 40 from randomly selected 1 909 specimens accords to the Hardy- Weinberg. Gene frenquency of HLA- B＊ 40 was 0. 312. Six kinds of HLA-B＊ 40 were detected,mainly B＊ 40∶01,B＊ 40∶02,B＊ 40∶06,which frenquencies were 0. 0686,0. 0225,0. 0364 respectively. Cumulative frequency component ratio of all B＊ 40 is 0. 1275. The gene frenquencies sum of B＊ 40∶03,B＊ 40∶40,B＊ 40∶78 was less than 0. 01. Conclusion The HLA- B＊ 40 distribution in Han population of Gansu shares the common genetic characteristics with the northern Han population of China,but also has its own distribution characteristics. This study required the B＊ 40 allelic frequencies at high resolution level and distribution in Chinese population from western China,which can provide more insights into the anthropology,forensic medicine,transplantation matching and disease association studies.