Molecular neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Guiyang region / 重庆医学

ABSTRACT

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 follow1388G>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 .