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The Study on the Genotypes of G6PD Deficiency from Zhuang People in the Southwestern Guangxi

Author: XuZuo
Tutor: LuoJianMing
School: Guangxi Medical University
Course: Pediatrics
Keywords: glucose-6-phospuate dehydrogenase gene mutation restrict endonuclease digestion genetic polymorphism zhuang people in southwestern Guangxi
CLC: R450
Type: Master's thesis
Year: 2009
Downloads: 74
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Abstract


Objective (1) To research the types and distribution of Glucose-6- phosphate dehydrogenase(G6PD)gene mutations in zhuang people in the southwestern Guangxi, to provide the basis for the prevention and management of G6PD deficiency in the region, to provide the genetic evidences on the origin and migration of inhabitants in the region. (2) To detect G871 and C1024T mutations meanwhile by MboⅡrestrict endonuclease digestion.Methods (1) By using the natural primers and mis-matched primers mediated polymerase chain raction followed by endonuclease digestion methods or ARMS, six types of G6PD gene mutations, including G1376T, G1388A, A95G, G871A, C1024T, C1311T were detected in 100 patients with G6PD deficiency from zhuang people in the southwestern Cuangxi.The other mutations located in exons 2～12 and in parts of introns of G6PD gene were detected by PCR-SSCP. Intron 11 of the samples of C1311T mutation was directly sequenced. (2) 22 samples of G871A and C1024T mutations were detected by synchronous application MboⅡrestrict endonuclease digestion and automatic DNA sequencing. To compare the the correlation between the two methods. Results (1) Among these 100 samples, six types of mutations were revealed: 25 cases with G1376T mutation, 24 cases with G1388A mutation, 13 cases with A95G mutation, 7 cases with both G871A and C1311T mutations, 4 cases with C1024T mutation, 20 cases with C1311T polymorphism, 7 cases with unidentified.(2) 7 cases with G871A mutation detected were all together with 1311T, belonged to G6PD Viangchan haplotype. (3) Among 32 samples with C1311T polymorphism, 3 cases with G1376T mutation, 1 case with G1388A mutation, 1 case with A95G, 6 cases with G871A, 1 cases with A95G and G871A mutations were found. Every sample was together with IVS11 T93C mutation. The activity of G6PD enzyme in 20 samples with exon mutations was significantly lower than that of the 12 cases without exon mutations. (4) Taking DNA sequencing as gold standard, the result of MboⅡrestrict endonuclease digestion and automatic DNA sequencing for 22 DNA samples were identical.Conclusion (1) G1376T, G1388A and A95G are the most common genotypes in Chinese, and are also the most three common gene mutations of G6PD deficiencies in zhuang people in southwestern Guangxi. (2) G6PD Viangchan is a kind of high frequency genotype which is at the fourth place among G6PD gene mutations of zhuang people in southwestern Guangxi. Besides G6PD Viangchan is one of the most common genotypes in South-Eastern Asia. It may provide genetic datas for the study of national origin, migration and integration. (3) The incidence of G1376T and G1388A is about 1:1 in zhuang people in southwestern Guangxi. But G1376T is higher than G1388A in Guangdong and Fujian, G1388A is higher than G1376T in Yunnan and Sichuan in other reports. (4) C1311T mutation combined with IVS11 T93C mutation may be universal in China. C1311T mutation is often accompanied by other mutation, while the latter is probably the main reason for reduced activity of G6PD enzyme. (5) G871A and C1024T mutations of G6PD gene are meanwhile detected by MboⅡrestrict endonuclease digestion. The method is with high specificity and sensitivity, and with the benefits of simple, fast, economic.

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