广西部分地区496例G6PD基因检测结果分析

目的了解广西地区汉族与少数民族新生儿G6PD基因突变谱,探讨基因型与酶活性关系。方法对2012年496例新生儿筛查召回病例及门诊疑似患儿,采用G6PD/6PGD比值法检测酶活性,采用Sanger测序法检测基因突变,统计其突变频率。结果 496例样本G6PD基因检测发现13个基因突变位点,热点突变c.95A〉G,c.392G〉T,c.1024C〉T,c.871G〉A,c.1376G〉T,c.1388G〉A占97%以上,国内c.871G〉A少见,但在广西地区仅次于热点突变,占5.8%。此外,c.406C〉T、c.1360C〉T只在壮族人群中存在,各出现2例。结论广西地区热点突变基因与国内报道一致,但其它突变位点有其地理与民族特点。

Analysis on G6PD gene mutations of 496 cases in Guangxi

Objective：To analyze the mutations spectrum of the G6 PD gene in Zhuang and Han individuals of Guang Xi province,and then discuss the correlation of genotype and enzyme activity. Method：496 cases from newborn screening project and clinical diagnosing suspected patients in 2012 year,using the G6PD/6PGD ratio method to detect enzyme activity,detection of gene mutations by Sanger sequencing,and statistical for frequency of mutations. Result：There are 13 mutations among 496 cases,the hotspots of mutation were identified as c.95A〉G,c.392G〉T,c.1024 C〉T,c.871G〉A,c.1376G〉T,c.1388G〉A,accounted for 97%,the mutation of c.871G〉A has been less reported in china,but in our study it accounted for 5.8%,just less than the hotspots of mutation. also,the mutation of c.406C〉T、c.1360C〉T only was identified in Zhuang individuals. Conclusion：The hotspots of mutation are no difference between Guang Xi and other provinces,but the other mutations are with geographic and ethnic characteristics.