基因芯片技术用于广西柳州地区G-6PD缺乏症基因突变的检测  

THE GENE MUTATION OF G-6PD DEFICIENCY IN THE AREA OF LIUZHOU, GUANGXI WERE DETECTED BY GENE CHIPS TECHNIQUE

作　　者：沙林林[1] 谢建生[2] 林希平[2] 赵应斌[2] 黄献文[2] 赵志斌[2] 杨彤[2] 

机构地区：[1]广西医科大学第一附属医院儿科 [2]广西柳州市人民医院

出　　处：《新生儿科杂志》2004年第3期103-105,144,共4页The Journal of Neonatology

基　　金：广西柳州市科委科研基金(20010120)资助

摘　　要：目的 明确广西柳州地区葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症基因突变类型。方法 聚合酶链反应扩增柳州地区籍44倒G6PD缺乏症足月新生儿和30例G6PD活性对照者的DNA标本相应片断,扩增产物与G6PD缺乏症诊断芯片杂交,扫描仪检测荧光信号强度,作出基因诊断。结果 44例G6PD缺乏症的DNA标本中,检出1388G→A 20例(基因频率43.1％)、1376G→T 9例(基因频率21.6％)、95A→G 6例(基因频率15.7％)、392G→T 5例(基因频率11.8％)、1024C→T 1例(基因频率1.9％)、未知突变3例(基因频率5.8％)。结论 基因芯片诊断技术是检测G6PD缺乏症基因突变的有效方法,可在临床推广应用。In order to investigate the mutations of G-6PD deficiency in Liuzhou, Guangxi.Methods DNA fragments of G-6PD gene from 44 cases of neonatal jaundice were amplified with PCRtechnique. The PCR Products were hybridized with the Gene Chips and the fluorescent positive or nega-tive blots in the hybried chips were scanned by GenePix 4000B scanner. Results 5G-6PD mutantionswere found, namely 1388 G→T(43.1%), 1376 G→T(21.6%), 95 A→G(15.7%), 392 G→T(11.8%), 1024C→T(1.9%). The unknown mutations accounted for 5.8%. Conclusion Gene chipsdiagnostic technique is an efficient method for detecting the G-6PD mutations and can be used clinical-ly.

关 键 词：基因芯片技术 广西 柳州地区 G-6PD缺乏症 基因突变 G6PD 基因频率 

分 类 号：R722.1[医药卫生—儿科]