湖北地区汉族人群ALDH2*504Lys基因多态性分析

Analysis on the Genetic Polymorphism of ALDH2 * 504Lys among the Han Population in Hubei

目的调查湖北地区汉族人群乙醛脱氢酶2(ALDH2)第12外显子Glu504Lys基因多态性。方法采集96例无血缘关系汉族人的外周血,运用Sanger测序法检测ALDH2第12外显子单核苷酸多态性(SNP)的情况。结果 ALDH2*1和ALDH2*2等位基因的突变频率分别为89.1%和10.9%。ALDH2*1/1和ALDH2*1/2两种基因型频率分别为78.1%和21.9%,尚未检测到ALDH2*2/2纯合突变。饮酒有酒精脸红反应组ALDH2*504Lys基因频率显著高于不脸红组(P<0.01)。结论湖北地区的居民对酒精的耐受程度比上海人强,与洛阳人耐受酒精能力一致。

Objective To investigate allele frequency of the twelfth exon of aldehyde dehydrogenase 2 （ALDH2＊504Lys） among the Han Population in Hubei.Methods Peripheral blood samples of 96 Hans without blood relationship were collected ,and the single nucleotide polymorphism（ SNP） of the twelfth exon of ALDH2 was analyzed by Sanger sequencing.Results The allele mutation rates of ALDH2＊1 and ALDH2＊2 were 89.1% and 10.9% respectively.Genotype frequencies of ALDH2＊1/1 and ALDH2＊1/2 were 78.1%and 21.9%.And no homozygous mutant of ALDH2＊2/2 was found.Gene frequency of ALDH2＊504Lys was significantly higher in people with flushing response after alcohol intake than in those without such response （ P＆lt;0.01）.Conclusion Residents in Hubei province are more tolerant of alcohol than Shanghai residents,and are tolerant of alcohol at the same level as Luoyang residents.