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

Objective To detect new mutations among 29 glucose-6-phosphate dehydrogenas e (G6PD) deficient individuals from Yunnan province. Methods The nitroblue tetrazolium (NBT) method was used to screen G6PD defi cient individuals. Mutation was identified by single strand conformation po lymorphism (SSCP), amplification created restriction site (ACRS), amplifica tion 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 muta tion is a novel mis-sense mutation, with a substitution of threonine for al anine (A461T). The resultant G6PD had reduced enzymatic activity. In additi on, G1381A caused a restriction site of Stu I to disappear, providing a rap id method for the detection of this mutation. Conclusion A novel mis-sense mutation G1381A was found. This mutation resul ts in a substitution of threonine for alanine, producing enzyme with reduce d activity. The loss of the Stu I restriction site offers a rapid method fo r the detection of this mutation.