贵阳地区新生儿G6PD缺乏症分子筛查结果分析

目的：了解贵阳地区葡萄糖‐6‐磷酸脱氢酶（G6PD ）缺乏症的发生率及基因突变分布情况。方法选取新生儿脐血DNA样本515例，采用基质辅助激光解吸／电离飞行时间质谱系统检测G6PD基因15种突变类型和1种多态位点。结果515份样本检出G6PD基因突变10例，检出率为1．94％。检出5种突变类型：1388G＞ A 4例（40．0％），1024C＞ T 和519C＞ T各2例（20．0％），1376G＞ T和95A＞G各1例（10．0％）。多态位点1311C＞T的等位基因频率为12．79％。结论贵阳地区是G6PD缺乏症的高发区，1388G＞A是该地区最常见的G6PD基因突变类型。

Molecular neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Guiyang region

Objective To investigate the prevalence of glucose‐6‐phosphate dehydrogenase (G6PD) deficiency and distribu‐tion of mutations in G6PD gene in Guiyang region .Methods A total of 515 DNA samples taken from newborn umbilical cord blood were collected ,15 mutations and one single nucleotide polymorphism in G6PD gene were detected by using of the Sequenom Mas‐sArray MALDI‐TOF‐MS system .Results Among the 515 samples ,10 were determined to have one of the G6PD gene mutations with a detection rate of 1 .94% ,5 mutation types were detected as follow :1388G>A accounted for 40 .0% (4/10 cases) ,1024C> T and 519C> T accounted for 20 .0% (2/10 cases) respectively ,1376G> T and 95A>G accounted for 10 .0% (1/10 cases) respec‐tively .The single nucleotide polymorphism allele frequency of 1311C>T was 12 .79% .Conclusion Guiyang is a region with higher prevalence of G6PD deficiency ,1388 G>A is the most common mutation of G6PD gene in this region .