摘要
目的了解广西地区葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发病率和基因突变类型。方法对广西地区2 187例新生儿样本采用四氮唑蓝定量法进行G6PD活性筛查;对其中经G6PD活性测定诊断为G6PD缺乏的62例新生儿采用自然或错配引物介导的聚合酶链反应/限制性内切酶分析检测中国人群3种最常见的G6PD基因突变型。结果2 187例新生儿中筛查出G6PD缺乏的有235例(10.75%),62例基因检测发现G1388A突变25例G1376T突变16例,A95G突变4例,其余未定型,3种常见突变共45例,占72.58%(45/62);其中5例经DNA测序证实。结论广西地区G6PD缺乏症的发病率为10.75%,G1388A、G1376T和A95G也是广西地区G6PD缺乏症的常见基因突变型。
Objecctive To understand the occurrence of glucose-6-phophate dehydrogenase （G6PD） deficiency and to screen G6PD gene mutations in Guangxi Zhuang Autonomous region. Methods Nitroblue tetrazolium qualitation was used to detect G6PD deficiency in 2 187 neonates from Guangxi region. DNA samples from 62 neonates with G6PD deficiency were studied for the three common mutations in Chinese people by using the natural primers or mis-matched primers mediated polymerase chain reaction followed by restriction endomuclease analysis. Results Two hundred and thirty-five cases were found to have G6PD deficiency in 2 187 neonates,accounting for 10.75 %. Twenty-five neonates were G1388A, 16 neonates were G1376T and 4 cases were A95G. The rest were unknown. The three common G6PD genotypes added up to 45 cases, accounting for 72.58% （45/62）. Five cases were determined by DNA sequence. Conclusion The occurrence of G6PD deficiency in Guangxi Zhuang Autonomous region was 10.75 %. G1388A,G1376T and A95G were also the most three common mutations in Guangxi region.
出处
《临床荟萃》
CAS
北大核心
2006年第11期775-777,共3页
Clinical Focus
