天津地区G6PD缺陷患者常见基因突变分析

目的研究北方地区葡萄糖－６－磷酸脱氢酶（ｇｌｕｃｏｓｅ－６－ｐｈｏｓｐｈａｔｅｄｅｈｙｄｒｏｇｅｎａｓｅ,Ｇ６ＰＤ）基因突变类型、基因突变与人口变迁。方法采用“错配引物”介导的聚合酶链反应／限制性酶切分析法和双脱氧核苷酸指纹印迹检测法,对天津地区２２例Ｇ６ＰＤ缺陷患者进行３种中国南方人群常见的Ｇ６ＰＤ基因突变的分析。结果８例患者（８／２２,３６．４％）有Ｒ４５９Ｌ（１３７６Ｇ→Ｔ）突变;７例患者（７／２２,３１．８％）有Ｒ４６３Ｈ（１３８８Ｇ→Ａ）突变;７例（７／２２）无１３７６和１３８８位点突变病例中,有３例做了Ｈ３２Ｒ（９５Ａ→Ｇ）突变分析,提示１例有该位点突变。结论北方地区也存在中国南方人群常见的３种Ｇ６ＰＤ基因突变,大多数中国北方Ｇ６ＰＤ缺陷患者是由于中国南方移民迁移造成的。

Common mutation analysis for patients found in Tianjin area with glucose6phosphate dehydrogenase deficiency

Objective To study the types of glucose6phosphate dehydrogenase (G6PD) gene mutation in North China and to find the relationship between the mutations and population emigrants. Methods DNA samples from 22 unrelated patients (21 male and 1 female) with G6PD deficiency from Tianjin area in North China were studied for the three common mutations by using both mismatched primers mediated polymerase chain reaction/restriction enzyme analysis and dideoxy fingerprinting methods. Results Eight patients(8/22,36.4%) were found to have the mutation R459L(1376 GT), and seven patients (7/22, 31.8%) were found to have the mutation R463H (1388 GA).In three of (3/7) other seven patients, (7/22) H32R(95 AG) were detected; one patient (1/3) was identified to have H32R (95AG) mutation. Conclusion The three common mutations in South China are also found in North China. However, most of the patients in Tianjin area are the later generations of Southern emigrants.