宁波地区新生儿葡萄糖-6-磷酸脱氢酶缺陷基因型分析与生化比值的方法学比较  

Methodological comparison of G6PD deficiency genotype analysis and biochemical ratio of neonates in Ningbo area

作　　者：潘婕文[1] 鲍幼维 潘小莉[1] 庄丹燕[1] 李海波 PAN Jie-wen;BAO You-wei;PAN Xiao-li;ZHUANG Dan-yan;LI Hai-bo(Ningbo Women and Children s Hospital,Ningbo,Zhejiang 315000,China)

机构地区：[1]宁波市妇女儿童医院,浙江宁波315000

出　　处：《中国卫生检验杂志》2020年第4期442-444,共3页Chinese Journal of Health Laboratory Technology

基　　金：宁波市自然科学基金项目(2018A610251、2019A6103-78、2019A610387)。

摘　　要：目的明确宁波地区新生儿葡萄糖-6-磷酸脱氢酶(G6PD)的发病情况,比较G6PD/6PGD定量生化比值和12种G6PD基因探针结合HRM的检测方法,为确定G6PDD筛查策略和方法提供借鉴。方法收集2015年浙江省全宁波市82233例出生3 d新生儿血样,荧光法检测G6PD酶活性,对G6PD活性值低于2.6 U/g Hb的血样召回进行G6PD/6PGD比值测定和基因突变确诊。把召回确诊患者的定量比值结果与基因结果做了对比分析,同时对确诊为G6PDD新生儿的家长告知诊疗措施。结果981例G6PD疑似阳性样本中,445例确诊为G6PDD,11种为单一位点突变,6种为复合型突变。447例生化比值的检测,G6PD平均生化比值男性0.49,女性1.28,差异有统计学意义(P<0.0001),生化比值定量法的诊断率为93%,诊断误差为12.5%。结论G6PD生化比值结合酶活性值筛选有利于减少漏诊现象,结合基因检测技术,丰富了宁波地区G6PDD诊断方法并对预防意外具有重要的指导意义。Objective To determine the incidence of glucose-6-phosphate dehydrogenase(G6 PD)in neonates in Ningbo area,compare the quantitative biochemical ratio of G6 PD/6 PGD,and provide reference for the detection methods of 12 G6 PD gene probes combined with HRM.Methods Blood samples were collected from 82233 neonates born in Ningbo,Zhejiang Province in 2015.The G6 PD enzyme activity was detected by fluorescence method.Blood samples with G6 PD activity lower than 2.6 U/g Hb were recalled for G6 PD/6 PGD ratio determination and gene mutation diagnosis.The quantitative ratio results of recalled confirmed patients were compared with genetic results,and parents of newly diagnosed G6 PDD newborns were informed of the treatment measures.Results Among 981 G6 PD suspected positive samples,445 cases were confirmed as G6 PDD,11 were single-site mutations,and 6 were compound mutations.In 447 biochemical ratio tests,the average biochemical ratio of G6 PD was 0.49 for males and 1.28 for females,and the differences were statistically significant(P<0001).The diagnostic rate of quantitative biochemical ratio was 93%,and the diagnostic error was 12.5%.Conclusion The screening of G6 PD biochemical ratio combined with enzyme activity value is helpful to reduce missed diagnosis.Combining with gene detection technology,it enriches the diagnostic method of G6 PDD in Ningbo area and has important guiding significance for preventing accidents.

关 键 词：葡萄糖-6-磷酸脱氢酶 基因检测 基因突变 PCR 高分辨熔解曲线 

分 类 号：R722.17[医药卫生—儿科]