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 dehydrogenase (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.


CONCLUSIONS
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.
Ren
X
X
Department of Medical Genetics, Sun Yat-sen University of Medical Sciences, Guangzhou 510089, China.
He
Y
Y
Du
C
C
Jiang
W
W
Chen
L
L
Lin
Q
Q
D000328:Adult; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense
D005954:Glucosephosphate Dehydrogenase