Internal medicine journal
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Internal medicine journal · Apr 2011
Comparative StudyPrevalence and molecular study of G6PD deficiency in Malaysian Orang Asli.
This study aims to define the prevalence and the molecular basis of G6PD deficiency in the Negrito tribe of the Malaysian Orang Asli. Four hundred and eighty seven consenting Negrito volunteers were screened for G6PD deficiency through the use of a fluorescent spot test. DNA from deficient individuals underwent PCR-RFLP analysis using thirteen recognized G6PD mutations. ⋯ The mean G6PD enzyme activity ranged 5.7 IU/gHb in deficient individuals. Our results demonstrate that the frequency of G6PD deficiency is higher among the Negrito Orang Asli than other Malaysian races. The dual presence of C1311T and IVS11 T93C in 64% of the deficient individuals (16/44) could well be a result of genetic drift within this isolated group.
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Internal medicine journal · Apr 2011
Letter Case ReportsVoriconazole toxicity related to polymorphisms in CYP2C19.