G6PD缺乏症基因型检测新方法的建立及分子流行特征分析

目的建立葡萄糖-6-磷酸脱氢酶缺乏症基因型检测的新方法及深入了解梅县地区大学生G6PD缺乏症的流行特征。方法经G6PD酶活性定量测定法确诊为G6PD缺乏症患者，用高分辨率熔解曲线法检测基因突变类型，对所有样本进行DNA测序验证。结果G6PD缺乏症的发病率为7．5％。共发现17种不同的基因型，其中最常见的2种基因型是G6PD Canton（1376G〉T）和G6PDKaiping（1388G〉A），占70％以上；接下来的是G6PDGaohe（95A〉G）、G6PD Union（1360C〉T）、G6PD Chinese．4（392G〉T）、G6PD Chinese-5（1024C〉T）。此外，5．33％（4／75）的G6PD缺乏症患者没有发现任何突变。结论高分率熔解曲线（high—resolution melting，HRM）是一种陕速、廉价、有效的G6PD基因型筛查方法。

Development of a new method for genotype of G6PD deficiency and its molecular characterization

Objective To develop a new method for genotype and to investigate the epidemic feature of G6PD deficiency in area of Meixian. Methods Samples with G6PD deficiency were diagnosed by the enzyme activity detection assay and were screened by PCR and high-resolution melting（HRM） assay. Finally, all samples were ascertained by direct DNA sequencing. Results The incidence of G6PD deficiency was 7.5% （75/1000）. 17 different genotypes were found, in which the most common variants were G6PD Canton（1376 G〉T） and G6PD Kaiping（1388 G〉A）, accounting for more than 70% of G6PD-deficient individuals, followed by G6PD Gaohe （95 A〉G）, G6PD Union（1360 C〉T）, G6PD Chinese-4（392 G〉T） and G6PD Chinese-5（1024 C〉T）. Moreover, 5.33%（4/75） of G6PD deficient people had no identifiable mutation in G6PD gene. Conclusion HRM assay was a rapid, inexpensive and effective method for G6PD mutations screening.