A novel mis-sense mutation (G1381A) in the G6PD gene identified in a Chinese man

Keywords: G6PD gene; G6PD gene mutation; mutation; glucose-6-phosphatedehydrogenase deficiency中国人中所见一种新的G6PD基因错义突变(G1381A)任晓琴杜传书蒋玮莹陈路明林群娣何永蜀
From: Chinese Medical Journal 2001;114(4):399-401
CountryChina
Language:Chinese
Abstract: Objective To detect new mutations among 29 glucose-6-phosphatedehydrogenase (G6PD) deficient individuals from Yunnan province. Methods The nitroblue tetrazolium (NBT) method was used to screen G6PD deficient individuals. Mutation was identified by single strand conformation polymorphism (SSCP), amplification created restriction site (ACRS), amplification refractory mutation system (ARMS) and DNA sequencing. Results Among 29 cases, 18 cases of G1388A, 1 case of C1004A, and 1 case of G1381A were identified. Nine cases remained to be defined. The G1381A mutation is a novel mis-sense mutation, with a substitution of threonine for alanine (A461T). The resultant G6PD had reduced enzymatic activity. In addition, G1381A caused a restriction site of Stu I to disappear, providing a rapid method for the detection of this mutation. Conclusion A novel mis-sense mutation G1381A was found. This mutation results in a substitution of threonine for alanine, producing enzyme with reduced activity. The loss of the Stu I restriction site offers a rapid method for the detection of this mutation.