莆田地区新生儿葡萄糖‑6‑磷酸脱氢酶缺乏症突变基因型及酶活性亚型分析  

Analysis of the genotype and enzyme activity subtypes of neonatal glucose-6-phosphate dehydrogenase deficiency in Putian region

作　　者：周建福[1] 刘莉莉 黄茂新[1] 王桂芝[2] 张一冰 林堃 ZHOU Jianfu;LIU Lili;HUANG Maoxin;WANG Guizhi;ZHANG Yibing;LIN Kun(Neonatal Department,Affiliated Hospital of Putian College,Putian 351100,China;Pediatric Neuro-Rehabilitation Department,Affiliated Hospital of Putian College,Putian 351100,China;Neonatal Disease Screening Center,Affiliated Hospital of Putian College,Putian 351100,China)

机构地区：[1]莆田学院附属医院新生儿科,福建莆田351100 [2]莆田学院附属医院小儿神经康复科,福建莆田351100 [3]莆田学院附属医院新生儿疾病筛查中心,福建莆田351100

出　　处：《山东第一医科大学（山东省医学科学院）学报》2022年第8期601-604,共4页Journal of Shandong First Medical University ＆ Shandong Academy of Medical Sciences

基　　金：莆田市科技计划(2022S3F007)。

摘　　要：目的分析莆田地区新生儿葡萄糖‑6‑磷酸脱氢酶(glucose‑6‑phosphate dehydrogenase,G‑6‑PD)缺乏症基因型与酶活性亚型的分布特征。方法收集2020年7月—2021年6月新生儿G‑6‑PD缺乏症筛查阳性病例215例,采用速率法检测酶活性,异常168例;145例酶活性异常病例采用多色熔解曲线分析法检测突变基因;分析基因型及酶活性亚型的分布情况。结果129例G‑6‑PD缺乏症突变基因分布:c.1376G>T 39例,c.1024C>T 24例,c.1388G>A 22例,c.95A>G 13例,c.392G>T 11例,c.487G>A 9例,c.871G>A 5例,c.1360C>T 3例,c.592C>T 1例,c.517T>C 1例,混合突变(c.1024C>T/c.392G>T)1例。酶活性亚型分布:Ⅰ级0例,Ⅱ级95例,Ⅲ级73例,Ⅳ级0例,Ⅴ级0例。结论莆田地区共检出10种G‑6‑PD缺乏症常见突变基因型和1种混合突变;前3顺位突变类型为:c.1376G>T,c.1024C>T,c.1388G>A;本地区酶活性亚型以Ⅱ级和Ⅲ级为主。Objective:To analyze the distribution of genotype and enzyme activity subtypes of Glucose-6-Phosphate Dehydrogenase deficiency in Putian region.Methods:We collected 215 newborn screening cases positive for G-6-PD deficiency from July 2020-June 2021,and enzymatic activity was detected by rate method and was abnormal in 168 cases;Mutant genotypes were detected by Multicolor Melting Curve Analysis in 145 cases with abnormal enzyme activity;The distribution of genotypes and enzyme activity subtypes were analyzed.Results:Distribution of mutation sites in 129 G-6-PD deficiency cases:c.1376G>T in 39 cases,c.1024C>T in 24 cases,c.1388G>A in 22 cases,c.95A>G in 13 cases,c.392G>T in 11 cases,c.487G>A in 9 cases,c.871G>A in 5 cases,c.1360C>T in 3 cases,1 case of mixed mutation(c.1024C>T/c.392G>T),c.592C>T in 1case,c.517T>C 1case;Distribution of the enzyme-active subtypes:ⅠLevel 0 case,ⅡLevel 95 cases,ⅢLevel 73cases,ⅣLevel 0case,andⅤLevel 0 case.Conclusion:A total of 10 common mutant genotypes and one mixed mutation were detected in Putian region;The top three common mutation types were c.1376G>T,c.1024C>T and c.1388G>A;The enzyme active subtypes in this region are mainly of LevelⅡandⅢ.

关 键 词：葡萄糖‑6‑磷酸脱氢酶缺乏症 酶活性 基因突变 

分 类 号：R722.1[医药卫生—儿科]