海南汉、黎族人群中ABO基因的DNA多态性

目的研究海南汉、黎族人群中ABO基因DNA多态性及其基因频率分布的特点。方法应用等位基因特异性聚合酶链反应检测了255例海南汉族人样本DNA和379例海南黎族人样本DNA的ABO血型基因型，根据遗传距离和聚类分析比较海南汉、黎族的ABO血型基因频率与其他群体的差异，确定其在中国地理分布上的位置。结果用等位基因特异性聚合酶链反应技术可鉴定出6种ABO血型基因型：AA、AB、AO^1、BB、BO^1、O^1O^1，其鉴定的ABO基因分型结果与DNA测序结果完全符合；在海南汉族人群中O^1O^1、BO^1、AO^1、AB、AA、BB基因型的频率分别为34．90％、23．53％、22．75％、6．27％、6．27％和6．27％，A、B、O^1等位基因频率分别为20．78％、21．18％和58．04％；在海南黎族人群中O^1O^1、BO^1、AO^1、AB、AA、BB基因型的频率分别为30．87％、26．39％、16．0g％、13．19％、6．86％和6．60％，A、B、O^1等位基因频率分别为21．50％、26．39％和52．11％。根据遗传距离和聚类分析，海南汉族ABO血型分布介于北方和西北各省组与长江流域和西南区组之间，而海南黎族ABO血型分布与我国各省区的ABO血型分布4个组的聚类现象不明显。结论海南汉、黎族人群ABO血型基因频率分布存在明显的种族和地域的遗传多态性。

Polymorphisms of ABO genes in Han and Li nationalities of Hainan province

Objective To investigate the genotype frequencies and DNA polymorphisms of ABO genes in Han and Li nationalities of Hainan province. Methods ABO genotypes of DNA samples from 255 people of Han nationality and 379 people of Li nationality were detected with allelespecific polymerase chain reaction （PCR）. Geographical distribution was deduced according to the difference of ABO genotype frequencies among the Li nationality, Han nationality and other nationalities investigated by genetic distance and cluster analysis. Results 6 ABO genotypes of AA, AB, AO^1, BB, BO^1 and O^1O^1 completely consistent with the results of sequencing, were identified with allele-specific PCR. In Han nationality, the genotype frequencies of O^1O^1,BO^1, AO^1, AB, AA and BB were 34.90%, 23.53%, 22.75%, 6.27%, 6.27%, and 6.27% and the allele frequencies of A, B, O^1 were 20.78%, 21.18% and 58.04%. In Li nationality, the genotype frequencies of O^1O^1, BO^1, AO^1, AB, AA and BB were 30.87%, 26.39%, 16.09%, 13.19%, 6.86%, and 6.60% and the allele frequencies of A, B, O^1 were 21.50%, 26.39% and 52.11%. The genetic distance and cluster analysis revealed that geographical distribution of ABO in Han nationality was between north as well as northwest China groups and the Yangtze river drainage basin as well as southwest China groups. However, the geographical distribution of ABO in Li nationality was not distinct to any of the four groups. Conclusion There are distinct race and region genetic polymorphisms in frequency distributions of ABO genotype in Hainan Li nationality and Han nationality.