Genetic Variations in the MCT1 (SLC16A1) Gene in the Chinese Population of Singapore
作者： Choo Bee Lean , Edmund Jon Deoon Lee
DOI: 10.2133/DMPK.24.469
关键词:
摘要: MCT1(SLC16A1) is the first member of monocarboxylate transporter (MCT) and its family involved in transportation metabolically important monocarboxylates such as lactate, pyruvate, acetate ketone bodies. This study identifies genetic variations SLC16A1 ethnic Chinese group Singaporean population (n=95). The promoter, coding region exon-intron junctions gene encoding MCT1 were screened for variation by DNA sequencing. Seven SLC16A1, including 4 novel ones, found: 2 promoter region, exons (both nonsynonymous variations), 3' untranslated (3'UTR) 1 intron. Of two mutations detected -363-855T>C a mutation. 1282G>A (Val(428)Ile) SNP was found heterozygotic subjects. 1470T>A (Asp(490)Glu) to be common polymorphism this study. Lastly, IVS3-17A>C intron 3 2258 (755)A>G 3'UTR are polymorphisms local population. To our knowledge, report comprehensive analysis on any
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