Objective To analyze the G6PD gene of three children with G6PD deficiency and their mothers,and to provide molecular basis for medication and diet guidance.Methods DNA was extracted from peripheral venous blood,and the coding re-gion of G6PD gene was detected by Sanger sequencing technology in 3 patients,and then the corresponding point mutation was detected in their mothers.The detection results were compared with the information of Human Gene Mutation databases such as HGMD,Mutation Database and ClinVar.According to the classification criteria and guidelines of genetic variants developed by ACMG,the gene mutation results were rated for pathogenicity.Results Three children were detected as G6PD gene C.208T＞C hemizygous mutation,c.440A＞G hemizygous mutation,c.1376G＞T hemizygous mutation,respectively.Their mother were happened corresponding heterozygous mutations.The C.440A＞G mutation of G6PD gene was not reported in the database of HGMD and Clin-Var,which may be a novel mutation.According to the classification criteria and guidelines of genetic variants developed by ACMG,the G6PD gene mutations c.1376G＞T,c.208T＞C and c.440A＞G detected in three patients were classified as pathogenic,possible pathogenic and uncertain significance,respectively.Conclusions Sanger sequencing technology can be used to detect the coding region of G6PD gene in G6PD deficiency patients,who with negative results of hotspot mutations.Identifying gene mutation is helpful for clinical medication treatment and diet guidance.
万方数据
维普
