[Common mutation analysis for patients found in Tianjin area with glucose-6-phosphate dehydrogenase deficiency].
摘要
OBJECTIVE: To study the types of glucose-6-phosphate dehydrogenase (G6PD) gene mutation in North China and to find the relationship between the mutations and population emigrants. METHODS: DNA samples from 22 unrelated patients(21 male and 1 female) with G6PD deficiency from Tianjin area in North China were studied for the three common mutations by using both mismatched primers mediated polymerase chain reaction/ restriction enzyme analysis and dideoxy fingerprinting methods. RESULTS: Eight patients(8/22, 36.4%) were found to have the mutation R459L(1376G-->T), and seven patients (7/22, 31.8%) were found to have the mutation R463H (1388G-->A). In three of (3/7) other seven patients (7/22), H32R(95A-->G) were detected; one patient (1/3) was identified to have H32R (95A-->G) mutation. CONCLUSION: The three common mutations in South China are also found in North China. However, most of the patients in Tianjin are also the later generations of Southern emigrants.