海南黎族人群葡萄糖-6-磷酸脱氢酶C1311T多态性分析

Analysis of polymorphism of G6PD cDNA C1311T in Li ethnic group in Hainan Province

目的通过对海南黎族人群葡萄糖-6-磷酸脱氢酶(G6PD)基因C1311T多态性分析,进一步理解海南黎族人群G1376T和G1388A突变遗传背景。方法运用硝基四氮唑蓝定量法对海南黎族男性全血标本进行筛查,随机选取无关海南黎族萄糖-6-磷酸脱氢酶缺乏症和正常标本各50份,PCR扩增G6PD外显子11至13序列并测序。结果筛查出海南黎族男性G6PD缺乏86例。在50例G6PD缺乏症的标本中,检出27例G1376T突变、12例G1388A突变和3例G6PD cDNA C1311T突变。在50例海南黎族正常标本中,检出12例G6PD cDNA C1311 T突变。全部G6PDcDNA C 1311T突变标本均合并IVS-11T93C突变,但未观察到G6PD C1311T合并其他突变。结论 C1311T同义突变在海南黎族人群中是普遍存在,C1311T突变与IVS-11T93C突变可能是在较早的一次突变中同时产生的,但与G1376T突变或G1388A突变可能存在不同起源。

Aim To further understand the genetic background of G1376T and G1388A mutation by studying a G6PD polymorphic loci,eDNA C1311T in Li ethnic group in Hainan Province. Methods The male whole blood specimens were screened using Nitrotetrazoliurn blue method by selecting 50 speciemens with G6PD deficiency and 50 normal specimens randomly,G6PD from the llth to 13th exons was amplified by using polymerase chain reaction （PCR） and sequenced. Results There 86 cases with G6PD deficiency were screened out and among 50 cases with G6PD deficiency, containing 27 G1376T mutation, 12 G1388A mutations and 3 G6PD cDNA C 1311T mutations; 50 cases with normal population specimens contain 12 G6PD Cdnac 1311T mutations. All G6PD eDNA C 1311T mutations were accompanied by IVS-11T93C mutations, （C1311T/IVS-11T93C composite mutations）, but G6PD C1311TflVS-11T93C composite mutations merging other mutations were not observed. Conclusion C1311T mutation is conmmn in the Li ethnic group in Hainan,C1311T and IVS-11T93C mutations might occur simultaneously at an ealier time period,but they might originate differently from G1376T or G1388A mutations.