云南玉溪葡萄糖-6-磷酸脱氧酶缺乏症基因突变研究

目的：调查云南玉溪G6PD缺乏症的发病率．分析鉴定云南玉溪G6PD缺乏症的基因突变类型及特征，探讨检测G6PD缺乏症基因突变的有效方法。方法：NBT纸片法定性筛查玉溪当地居民450人，NBT定量酶活性，PCR-ARMS法检测中国人中最常见的三种突变，作PCR-SSCP分析，最后用DNA测序分析和证实。结果：（1）450例当地居民筛查发现G6PD缺乏症患者48例（男31例，女17例）。（2）PCR-ARMS发现G1388A 21例（43．75％）、G1376T4例（8．33％），未见A93G。（3）PCR-SSCP发现27例异常，PCR—DNA测序结果与PCR—ARMS结果吻合。2份未知突变样本测序分析证实为C1311T。（4）测序发现复合型突变：1例G1376T／IVS-11T93C，1例G1376T／C1311T和1例G1388A／IVS-11＇I＇93C。结论：（1）云南玉溪G6PD缺乏症发病率为10．67％，男性13．78％．女性7．56％；男、女性别比例1．82。（2）云南玉溪G6PD缺乏症基因突变以G1388A突变最常见，其次是G1376T突变，两种突变共占52．08％，未发现A95G突变。（3）研究云南玉溪G6PD缺乏症基因突变型对指导优生、优育，预防该病的遗传传播．提高我省各地州人口素质具有一定的社会意义。对开展G6PD缺乏症的基因诊断具有一定的应用价值和指导意义

A study of gene mutations in glucose-6-phosphate dehydrogenase deficiency in Yuxi city, Yunnan province

Abstract:Objective To investigate the incidence of glucose-6-phosphate dehydrogenase （G6PD） deficiency in Yuxi and to identify the types of gene mutation in this disorder and their characteristics. Methods 450 residents were qualitatively screened for G6PD using NBT test. The 3 most common mutations （G1388A, G1376T, and A95G） of G6PD in Chinese population were detected by amplificatibn refractory mutation system （ARMS-PCR） and all of the exons were analyzed by polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP）. The mutations which had been identified were confirmed by direct PCR-DNA sequencing. Results G6PD deficiency was detectable in 31 male and 17 female residents. Of these 48 with G6PD deficiency, 21 had G1388A mutation, 4 had G1376T, and none had A95G. 27 gene mutations were determined by PCR-SSCP, 25 of whose sequencing outcomes obtained from PCR-DNA were matched with those from ARMS. The remaining 2 were C1311T. One G1376T/IVS-11T93C, one G1388A/IVS-11T93C, and one G1376T/C1311T were detected via sequencing. Conclusions The incidence of G6PD deficiency in Yuxi is 10.67% （male 13.78%, female 7.56%）, with the ratio of male to female being 1.82 ： 1. G1388A mutation is the most common type, followed by G1376T, and no A95G is detectable. The two most frequent mutations account for 52.08%. Detection of the types of gene mutations in G6PD deficiency plays a role in developing the genetic diagnosis for the disorder and in improving the quality of population in Yunnan