Study of the common genotype of glucose-6-phosphate dehydrogenase deficiency in newborn infant in Guangdong region

Abstract

Objective To investigate the genotypic frequency of glucose-6-phosphate dehydrogenase(G6PD)(1376G>T), G6PD 1311C>T and G6PD IVS11-93 T>C in 50 newborns with G6PD deficiency in Guangdong region. Methods To identify G6PD deficiency in the patients of neonatal ward in Guangzhou First People's Hospital during 2010, detected by methemoglobin reduction test and measurement of G6PD/6-phosphate dehydrogenase(6PGD) ratio.Fifty G6PD deficiency subjects were classified into the experimental group, 20 neonatal jaundice subjects were classified into the control group.Genomic DNA was extracted by standard method from the peripheral blood of each subject.PCR-direct DNA sequence analysis was used to identify G6PD 1376G>T, 1311C>T and 11 intron 93T>C mutations. Results The overall results of mutation analysis in the 50 G6PD deficiency subjects showed the existence of 3 different alleles: G6PD 1376G>T, 1311C>T, 11 intron 93T>C(including 1311C>T/IVS11-93T>C and 1376G>T/1311C>T/IVS11-93T>C complex mutations). The different genotypic frequency in the experimental group was G6PD 1376G>T 26.0%(13/50 cases), 1311C>T 4.0%(2/50 cases), 11 intron 93T>C 4.0%(2/50 cases), 1311C>T/IVS11-93T>C 2.0%(1/50 cases), 1376G>T/1311C>T/IVS11-93T>C 2.0%(1/50 cases). The G6PD enzyme activity of the subjects with 1311C>T/IVS11-93T>C and 1376G>T/1311C>T/IVS11-93T>C complex mutation were reduced.These G6PD mutations were not found in the controls. Conclusions G6PD 1376G>T is one of the commonest mutation in G6PD deficiency newborn in Guangdong region.A novel complex mutation 1376G>T/1311C>T/IVS11-93T>C in this study was found. Key words: Glucose-6-phosphate dehydrogenase; Complex mutations; Infant, newborn; Guangdong