Author's response to reviews Title: Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome Authors:
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منابع مشابه
Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome
BACKGROUND Gilbert syndrome is caused by defects in bilirubin UDP-glucuronosyltransferase (UGT1A1). The most common variation believed to be involved is A(TA)7TAA. Although several polymorphisms have been found to link with A(TA)7TAA, the combined effect of regulatory polymorphisms in the development of Gilbert syndrome remains unclear. METHODS In an analysis of 15 patients and 60 normal subj...
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Objective(s): Mutations in the UGT1A1 gene are responsible for hyperbilirubinemia syndromes including Crigler-Najjar type 1 and 2 and Gilbert syndrome. In view of the genetic heterogeneity and involvement of large numbers of the disease causing mutations, the application of polymorphic markers in the UGTA1 gene could be useful in molecular diagnosis of the disease. Materials and Methods: In the...
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