Objective: To search for novel G6PD gene mutation in Yunnan.
Methods: After excluding common mutations among Chinese, 2 approximately 12 exons of G6PD gene were screened by PCR-SSCP, and those with an abnormal electrophoretic pattern were further sequenced.
Results: During a survey of G6PD deficiency in a population of 823 individuals in Yunnan, 54 cases were found with the deficiency. The gene mutations were studied in 29 cases of them. Nineteen cases of nt 1388 G --> A, and 1 of nt 1381 G --> A mutations were identified. In the remaining 9 cases, an abnormal PCR-SSCP pattern was found in one case. A single base substitution of nt 1004 C --> A, which resulted in Ala339 --> Asp, was revealed by PCR-direct sequencing.
Conclusion: This mutation is the second case in Chinese, and the first case in Yunnan province.