Analysis of polymorphism of G6PD cDNA C1311T in Li ethnic group in Hainan Province

Aim To further understand the genetic background of G1376T and G1388A mutation by studying a G6PD polymorphic loci,cDNA C1311T in Li ethnic group in Hainan Province.Methods The male whole blood specimens were screened using Nitrotetrazoliurn blue method by selecting 50 speciemens with G6PD deficiency and 50 normal specimens randomly,G6PD from the 11th to 13th exons was amplified by using polymerase chain reaction(PCR) and sequenced.Results There 86 cases with G6PD deficiency were screened out and among 50 cases with G6PD deficiency,containing 27 G1376T mutation,12 G1388A mutations and 3 G6PD cDNA C 1311T mutations;50 cases with normal population specimens contain 12 G6PD Cdnac 1311T mutations.All G6PD cDNA C 1311T mutations were accompanied by IVS-11T93C mutations,(C1311T/IVS-11T93C composite mutations),but G6PD C1311T/IVS-11T93C composite mutations merging other mutations were not observed.Conclusion C1311T mutation is common in the Li ethnic group in Hainan,C1311T and IVS-11T93C mutations might occur simultaneously at an ealier time period,but they might originate differently from G1376T or G1388A mutations.