莆田地区高发致病性G6PD突变基因型及临床表型分析

An Analysis of the Genotypes and Clinical Phenotypes of Highly Pathogenic Glucose-6-Phosphate Dehydrogenase

收集2020年7月至2022年6月莆田地区新生儿葡萄糖-6-磷酸脱氢酶(G6PD)筛查阳性样本,采用多色探针荧光PCR熔解曲线法检测G6PD突变基因,分析高发致病性G6PD突变基因型及其临床表型。结果显示,317例G6PD筛查阳性样本中,有269例确诊G6PD基因突变,共检出10种单个位点变异和2种复合杂合变异,所有突变类型均为致病性变异。排在前4位的高发致病性基因型为c.1376G>T(79例)、c.1388G>A(54例)、c.1024C>T(49例)、c.392G>T(33例);临床表型为160例出现不同程度黄疸,74例发生不同程度贫血,比较各基因型之间黄疸和贫血的发生情况,差异均无统计学意义(P>0.05)。希望研究结果能为G6PD缺乏症的遗传咨询及临床决策提供帮助。

The samples of positive Glucose-6-phosphate dehydrogenase(G6PD)screening to the neonates from July 2020 to June 2022 in Putian are collected.Polychromatic probe fluorescence PCR melting curve analysis is used to detect G6PD mutant gene,and the distribution of high pathogenicity G6PD mutant gene types and clinical phenotype is analyzed.The results show that 269 out of 317 positive G6PD screening were confirmed G6PD mutant gene.10 types of mutations at a single site and 2 types of complex heterozygous mutations were detected,all mutation types were pathogenic variants.The top four high pathogenicity mutant genes are as follows:c.1376 G>T variation in 79 cases,c.1388G>A variation in 54 cases,c.1024C>T variation in 49 cases and c.392 G>T variation in 33 cases.160 cases had varying degrees of jaundice,and 74 cases had anemia of different degrees.There is no significant difference in the incidence of jaundice and anemia among genotypes(P>0.05).It is hoped that the results of this study will be helpful for genetic counseling and clinical decision-making for G6PD deficiency.