Prevalence of G 6-PD Deficiency and Molecular Genetics of G6PD in Karen
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Abstract
Introduction : Mutations in the G6PD gene can lead to G 6-PD deficiency, an X-linked hereditary enzymopathic disorder, which highly frequent in Southeast Asians. Southeast Asia composes of many ethnic groups and minority tribes, whose distributions have been historically dynamic. There are two common G6PD mutations are G6PD Viangchan (871G>A : Valine 291 Methionine) and G6PD Mahidol (487 G > A : Glycine 163). G6PD Viangchan 871A was the most common in Thais, Loatains and Combodians, in contrast, G6PD Mahidol487A was the most common in Burmese and Mon. To date, there has been no report of G 6-PD deficiency and its molecular genetics in Karen, an ethnic group belong to the Sino-Tibetan language group and found predominantly in Myanmar and on the Thai-Myanmar border. Objectives : To study the prevalence of G 6- PD deficiency and the G6PD mutations. Materials and methods : We collected 230 Karen blood samples (Male 106, Female 124 ) to study the prevalence of G 6-PD deficiency and the G6PD mutations. in G 6-PD activity assay, we screened by using fluorescence spot test and quantitative G 6-PD activity assay. in mutation analysis, we screened by using PCR-RFLP technique. Results : G 6-PD deficiency was found in 17 (16.04%) of 106 males and 9 (7.26%) of 124 females in the study population. Molecular analysis was performed in G 6-PD deficient subjects to identify G6PD mutations, which varies with ethnic groups. Eight G6PD mutations were characterized: G6PD Mahidol (65.38 %) was the most dominant mutation followed by G6PD Canton (7.69 %), and seven G 6-PD deficient unidentified mutations. The exon11 nt1311C T and IVS11 nt93T
C haplotypes were characterized in all 230 Karen individuals (354 alleles). Conclusion : All G6PD Mahidol alleles shared the same haplotype (1311C, 93T), as has been previously reported in G6PD Mahidol in Burmese and Mon. Our study suggests that Karen share a common ancestry with Burmese and Mon. G6PD Canton in Karen likely stem from gene flow throughout Chinese rather than founder effect.
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