比值法和基因检测G6PD酶活性的对比分析

目的对G6P／6PD比值法和基因两种不同的方法检测G6PD酶活性进行对比分析，评价其准确性和特异性。方法对来我院门诊就诊的G6PD缺乏儿童及新生儿疾病筛查初筛阳性召回的新生儿共91例，用G6W6PG比值法和基因进行G6PD酶活性检测，对这两种方法进行对比分析。结果91例患儿中，比值法检测，G6P／6PG小于正常值75例，正常16例。基因突变检测法，74例被检出存在基因突变，17例未检测到突变。结论两种方法无统计学差异。比值法可作为一种常规的筛查方法，经济实惠，可以推广到基层；而基因确诊费用昂贵，但作为分子水平诊断的方法，能够精确找到突变住点，更有利于指导临床用药，成为今后的发展方向。

Comparative study on the diagnosis of G6PD enzyme activity by quantitative G6P/6PG ratio and gene mutations de-tection methods

Objective ： To G6P/6PG ratio method and gene of two different methods G6PD enzyme activity were analyzed, the evalu-ation of the accuracy and specificity. Methods ： The two methods, quantitative G6P/6PG ratio and gene mutations detection, were compared and analyzed when applied in 91 cases covering children with possible G6PD deficiency and called back newborns showing positive in neo- natal disease screening. Results： Of 91 cases, 75cases showed G6P/6PG decreasel6 cases were normal, 74cases of gene mutation were found, and 17 cases were detected no gene mutation. Conclusion： No statistical differences of the two methods. Ratio method can be used as a routine screening method, economical and practical, can be applied to the base; And gene diagnosis is expensive, but as molecular diagno- sis method, accurately find mutations, is more advantageous to guide clinical drug use, become the development direction in the future.