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.
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
