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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 gene mutation types of G6PD deficiency in Hui population in Yinchuan, Ningxia. Methods From October 2012 to May 2013, 1041 adult Hui people were screened for G6PD by fluorescent spot assay. Enzymatic screening was identified by PCR-reverse dot blot hybridization (PCRRDB) and PCR-DNA sequencing Defective samples of the mutant. Results The prevalence of G6PD deficiency was 0.58% (6/1041) in Hui population, including 4 females (0.39%, 4/650) and 2 males (0.19%, 2/391). G6PD deficiency is one of the most common single-gene genetic diseases in the world with a male-female ratio of 1: 2 (2/4). Among 6 cases of G6PD deficiency, 5 were single mutation and 1 was compound mutation. Six mutations were detected, which were c.392 G> T, c.1024 C> T, c.1311 C> T, c.1360 C> T, c.1376 G> T, c.1388 G> A. Conclusion The incidence of G6PD deficiency in Hui population in Ningxia is low. c.392 G> T and c.1311 C> T are the major genotypes of G6PD deficiency in Hui ethnicity.