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

• Published in: Chinese medical journal Vol. 114; no. 4; pp. 399 - 401
• Main Authors: Ren, X, He, Y, Du, C, Jiang, W, Chen, L, Lin, Q
• Format: Journal Article
• Language: English
• Published: China 中山医科大学医学遗传学教研室 广州 510089%昆明医学院生物学教研室 昆明650032 01.04.2001
• Subjects: Adult; Glucosephosphate Dehydrogenase - genetics; Humans; Male; Mutation, Missense; mutation; G6PD缺乏症; G6PD gene mutation; 葡萄糖-6-磷酸脱氢酶; 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; 突变; G6PD基因突变; G6PD gene
• ISSN: 0366-6999

To detect new mutations among 29 glucose-6-phosphate dehydrogenase (G6PD) deficient individuals from Yunnan province. 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. 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. 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.