贵州西江苗族葡萄糖-6-磷酸脱氢酶基因突变分析

Detection of glucose-6-phosphate dehydrogenase gene mutations of Miao Ethnic in Xijiang Guizhou

目的了解贵州西江苗族葡萄糖鄄6鄄磷酸脱氢酶(G6PD)缺陷症的基因频率、基因突变类型特点及分布特征,从分子水平揭示G6PD基因多态性。方法世代居住当地苗族男性431人,用四氮唑蓝(NBT)纸片定性法及G6PD/6PGD比值法作G6PD缺陷症筛查。确诊者用错配引物介导的聚合酶链反应/限制性酶切分析法(PCR鄄RE)进行中国人常见7种G6PD基因突变型分析,突变特异性扩增系统法(ARMS)验证其中3种突变。结果431人中检出G6PD缺陷28例,总检出率6.50%,缺陷症基因频率0.065。缺陷基因分析检出突变基因cDNA95(A→G)6例,发生频率为0.214;cDNA1024(C→T)8例,发生频率为0.286;cDNA1376(G→T)1例,发生频率为0.036;cDNA1388(G→A)7例,发生频率为0.250,未知型突变6例;未发现cDNA487(G→A)、cDNA493(A→G)、cDNA592(C→T)突变。结论G6PD缺陷症在贵州西江苗族人群有着较高的的基因频率,其主要突变类型为G6PD基因cDNA1024(C→T)、cDNA1388(G→A)、cDNA95(A→G)3种。中国人中较常见的cDNA1376(G→T)突变在该人群中频率较低,与已有报道的贵州汉族及其他民族有一定差异。

Objective To analyze the genic frequency and gene mutations of glucose-6-phosphate dehydrogenase(G6PD) in Miao ethnic in Xijiang Guizhou. Methods NBT qualitative and G6PD/6PGD quantitative methods were used to detect G6PD deficiency in 431 Miao males from the general people belonging to Xijiang Guizhou. By using mis-matched primers mediated polymerase chain reaction (PCR)/ restriction analysis, the G6PD deficient individuals were screened for the 7 mutations known among Chinese. Results Among the 431 males samples, 28 G6PD deficiency samples were found. The genic frequency of G6PD deficiency was 0.065. Four mutations were discovered, namely cDNA 95(A→G)(0.214), cDNA 1 024(C→T)(0.286), cDNA 1 376(G→T)(0.036) and cDNA 1 388(G→A)(0.250). The unknown mutations accounted for 0.214. cDNA 487(G→A), cDNA493(A→G) and cDNA 592(C→T) were not discovered among the cases. Conclusions G6PD deficiency is very heterogenous in Miao Ethnic in Xijiang Guizhou. cDNA 1 024(C→T), cDNA 1 388(G→A) and cDNA 95(A→G) are the most mutations in the area. The result is different from that in other ethnics of Guizhou. The findings may provide some useful informations for physician scientists to get insight into the pathogenesis of G6PD deficiency so as to improve clinical diagnosis, prevention and cure of G6PD dificiency. It is significant to study the mutations of G6PD gene in different nationalities in China for elucidating the origin, migration and evolution of the nationalities.