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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 investigate the gene frequency, gene mutation types and distribution characteristics of G6PD deficiency in Xijiang Miao in Guizhou Province, and to reveal the polymorphism of G6PD gene at the molecular level. Methods A total of 431 Hm3 males were enrolled in this study. The G6PD deficiency screening method was performed with the qualitative method of NBT paper and G6PD / 6PGD ratio method. The diagnosis of 7 G6PD gene mutations in Chinese were analyzed by polymerase chain reaction / restriction enzyme digestion (PCR-RE). The mutation-specific amplification system (ARMS) Mutation. Results Of the 431 cases, 28 cases of G6PD deficiency were detected, the overall detection rate was 6.50% and the frequency of defective gene was 0.065. The mutation gene cDNA6 (A → G) was detected in 6 cases with a frequency of 0.214. The frequency of cDNA1024 (C → T) was 0.286. One case of cDNA1376 (G → T) (G → A) in 7 cases, the frequency of occurrence was 0.250, unknown mutation in 6 cases; no mutation of cDNA487 (G → A), cDNA493 (A → G), cDNA592 (C → T) was found. Conclusion G6PD deficiency has a high frequency of Mijians in Xijiang, Guizhou Province. The main mutation types are G6PD gene cDNA1024 (C → T), cDNA1388 (G → A) and cDNA95 (A → G). The more common mutation of cDNA1376 (G → T) in Chinese is less frequent in this population, which is different from the previously reported Han and other ethnic groups in Guizhou.