Research Of The G6PD Gene Mutations In The Southwest Border Region Of Guangxi

Objective (1) To investigate the occurrence of glucose-6-phophate dehydrogenase (G-6-PD) deficiency and researching the types and distribution of G-6-PD gene mutations in the Southwest border region of Guangxi, to provide the basis for the prevention and management of G-6-PD deficiency in the region, to provide the genetic evidences on the origin and migration of inhabitants in the region.Methods (1) screening out 235 cases of G-6-PD deficients in the Southwest border region of Guangxi (Ningming,Daxin,Tiandeng,Jingxi and Napo), with G-6-PD test paper method and tetrazolium quantitative method. (2) genomie DNA was extraeted with blood genomic DNA extraction kit. (3) G1376T,G1388A,A95G,G871A and C1024T were detected by using the natural primers and mis-matched primers mediated polymerase chain raction followed by endonuclease digestion methods. C1311T polymorphism was detected by amplification refractory mutation system(ARMS). The other unknown mutations were detected by DNA sequencing.Results (1) 235 of the 2360 blood samples (9.96%) were suspected to be G-6-PD deficient from People in the Southwest border region of Guangxi. (2) Among these 235 samples, nine types of mutations were revealed:72 cases with G1376T mutation,80 cases with G1388A mutation,42 cases with A95G mutation,15 cases with both G871A and C1311T mutations,12 cases with C1024T mutation,3 cases with C1004A mutation,2 cases with C1360T mutation,1 case with C519T mutation, and 13 cases with unidentified. (3) 15 cases with G871A mutation were all together with C1311T polymorphism, belonged to G6PD Viangchan haplotype, and the rate was 6.38%, (4) Among 44 samples with C1311T polymorphism,6 cases with G1376T mutation,8 cases with G1388A mutation,5 cases with A95G mutation,15 cases with G871A mutation and 3 cases with C1004A mutation were found, of which 1 case was with A95G/G1388A double heterozygote,1 case was A95G male hemizygous and 1 case was C1004A male hemizygous.Conclusion (1) G-6-PD deficiency was a kind of high frequency disease in the Southwest border region of Guangxi. (2) Mutations of G1376T,G1388A and A95G are the most common genotypes in China, and were also the most three common gene mutations of G-6-PD deficiencies in the southwest border region of Guangxi. (3) The incidence of G1376T and G1388A was about 1:1 in Guangxi. But G1376T was higher than G1388A in Guangdong and Fujian, G1388A was higher than G1376T in Yunnan and chongqing in other reports. (4) G6PD Viangchan was a kind of high frequency genotype, which was at the fourth place among G-6-PD gene mutations in the Southwest border region of Guangxi. (5) 2 cases with G6PD Union were found, which was accounted for 0.85%(2/235), it may also be sporadic distribution.