广东壮族瑶族和汉族人群G6PD缺乏症的基因频率调查

G6PD gene in the Zhuang and Yao nation alities in Lianshan,China.

目的:了解广东壮族、瑶族和汉族人群葡萄糖-6-磷酸脱氢酶(glucose-6-phosphatedehyd-rogenase,G6PD)缺乏症的基因频率。方法:先进行G6PD定性筛查,再取阳性者进行基因突变检查。结果:①3524人受检者中,G6PD缺乏症362例(缺乏率10.3%),其中壮族295例,瑶族42例,汉族25例;②3个民族人群均具有G6PD基因突变型G1388A(C2)、G1376T(C1)、A95G(C6)、C1024T(C5)及C592T(C7),瑶族的G1376T发生率高于G1388A,而壮族中G1388A发生率高于G1376T;③基因cSNPsC1311T壮族6.6%、瑶族7.9%,与汉族(16%)比较有统计学意义。结论:广东壮族、瑶族人群中具有共同的G6PD基因突变型。壮族、瑶族中的C1311T发生率明显高于汉族。两种民族的cSNPsC1311T均不符合其它突变。

Objective:To investigate glucose-6-phosphatedehydrogenase(G6PD)gene frequency in patients with G6PD defi-ciency in the Zhuang and Yao nationalities of Guangdong.Methods :Patients with G6PD deficiency ident ified by screen test were subjected to gene mutation analysis.Results:①362out of 3524subjects(10.3%)were identified as G6PD deficiency i ncluding295cases of the Zhuang nationality,42cases of the Yao nationality and 25cases of the Han nationality;②G6PD gene mutation types of G1388A(C2),G1376T(C1),A95G(C6),C1024T(C5)and C592T(C7)were present in all three nationalit ies.The prevalence of G1376T was higher in th e Yao nationality than that of G1388A,while the Zhuang nationality had more G1388A than G1376T;③The prevalence of cSNPs C1311T gene was 6.6%in the Zhuang nationality,7.9%in the Yao nationality and 16%in the Han nationality.Conclusion:Guangdong Zhuang and Yao nationality have similar G6PD gene mutation typ e.The prevalence of C1311T was higher in the Zhuang and Ya o nationalities than that in Han nati onality.CSNPS C1311T mutation in th e Zhuang and Yao nationality has its distinct featur e.These findings facilitate the understanding of nationality origin an d inheritance diversity as well as the prevention and treatment of G6PD deficiency.