宁夏银川回族G6PD缺乏症发生率及突变谱研究

The prevalence and mutation spectrum of G6PD deficiency among Hui ethnic group in Yinchuan,Ningxia Hui Autonomous Region

目的了解宁夏银川地区回族葡萄糖6磷酸脱氢酶缺乏症(G6PD deficiency)的发生率及基因突变类型。方法在2012年10月至2013年5月,用荧光斑点法对1041例成年回族进行G6PD酶学筛查;用PCR-反向斑点杂交芯片(PCRRDB)和PCR-DNA测序法鉴定酶学筛查缺陷样本的突变型。结果回族人群的G6PD缺乏症的发病率为0.58%(6/1041),其中女性4例(0.39%,4/650),男性2例(0.19%,2/391)。G6PD缺乏症是世界上最为普遍的单基因遗传病之一,男女检出比率为1:2(2/4)。在6例G6PD缺乏症者中5例为单一突变,1例为复合突变。有6种突变被检出,分别为c.392 G>T、c.1024 C>T、c.1311 C>T、c.1360 C>T、c.1376 G>T、c.1388 G>A。结论宁夏地区回族人群G6PD缺乏症发生率较低。c.392 G>T和c.1311 C>T为回族G6PD缺乏症主要的基因型。

Objective： To investigate the prevalence and genotypes of the Glucose-6-phosphate dehydrogenase （G6PD） deficiency in Hui nationality of Ningxia. Methods： A total of 1041 local people screened for G6PD deficiency by fluorescent spot test （FST） . Then, all the screening positive samples were subjected to genotype through DNA sequencing. Results- The prevalence of G6PD deficiency in Hui nationality of Ningxia was 0.58% （6/1041） . Of the 6 people suspected to be G6PD deficient based on FST, 2 were males, 4 were females. The detected ratio of male and female was 1 ： 2. Five in six are single mutation, only oneiscomplexmutation, ±392, ±1024, ±1311, ±1360, ±1376, ±1388 are the genotype, respectively. Conclusion. The rate of G6PD deficiency in Hui nationality of Ningxia Hui Autonomous Region is lower than the Middle East, ±392, ±1311 are principal mutate genotype.