The Study Of Glucose-6-phosphate Dehydrogenase(G6PD) Genetic Mutation Types In Fujian Han Population

Objective: The gene mutation frequencies of glucose- 6- phosphate dehydrogenase(G6PD) were detected in the Han people from Fujian province, in order to reveal the sites of genetic mutation and provide the evidence for diagnosis in Fujian province as well as the gene mutation studies of G6 PD in China.Methods: 1. The enzyme activity of G6 PD was determined by G6 PD kit(quantitative ratio method) from 240 cases of abnormal sample and 240 cases of normal sample, and the genomic DNA were isolated from the 480 cases.2. Three common mutatioins of G6 PD, G1388 A, G1376 T, A95 G, were analyzed by system block mutations-polymerase chain reaction(The amplification refractory mutation system).3. The DNA samples from the cases with G6 PD deficiency and without three common mutations were sequenced.4. The survey was performed by following-up to those parents of 240 cases with G6 PD deficiency.Results: 1. The genetic mutation analysis showed 118 cases with G1376 T mutation, 48 cases with G1388 A mutations, and 20 cases with A95 G mutations by Arms-PCR combined with agarose gel electrophoresis.2. The gene sequencing analysis showed 18 cases with C1024 T mutations, 16 cases with G392 T mutations, 3 cases with C1360 T mutations, 3 cases with G487 A mutation;3 cases with T1365-13 C mutation; 2 cases with T517 C mutation; 4 cases with G871 A mutation accompanied with C1311 T and T1365-13 C mutation; 2 cases with C1311T mutation accompanied with T1365-13 C mutation; 2 cases with C1311 T and T1365-13 C mutation accompanied with G392 T mutation; 1 case with C1024 T mutation accompanied with T1365-13 C mutations; 1 case with C1311 T mutation indicated the synonymous mutations from 240 cases of negative samples, and the rest of samples withou any mutations in the exons and introns.4. The survey result by follow-up showed that doctors advice based on the genetic detection of G6 PD deficiency provided the evidence for preventing the haemolysis occurred.Conclusions 1. The study revealed the genetic mutation of G6 PD from Fujian province.2. The results showed the differences between G6 PD activity deficiency and gene mutation types.3. The synonymous mutation of C1311 T was found in a normal sample. 4. Accurate genetic detection for G6 PD deficiency diagnosis was contributed to prevent the disease development.