论文部分内容阅读
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。
Objective To identify the genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Liuzhou, Guangxi. Methods Polymerase chain reaction amplification was used to amplify the corresponding DNA fragments of 44 G6PD deficiency full-term newborns and 30 G6PD active control samples in Liuzhou area. The amplified products were hybridized with the G6PD deficiency diagnostic chip. The fluorescence signal intensity, Make a genetic diagnosis. Results Among the 44 G6PD deficiency DNA samples, 1388G → A (gene frequency was 43.1%), 1376G → T (gene frequency 21.6%), 95A → G (gene frequency 15.7%), 392G → T 5 cases (gene frequency 11.8%), 1024C → T 1 cases (gene frequency 1.9%), unknown mutation in 3 cases (gene frequency 5.8%). Conclusion Gene chip diagnostic technology is an effective method to detect G6PD deficiency gene mutation, which can be widely applied in clinic.