UGT۱A۱ gene linkage analysis: application of polymorphic markers rs۴۱۴۸۳۲۶/rs۴۱۲۴۸۷۴ in the Iranian population
Publish place: Iranian Journal of Basic Medical Sciences، Vol: 20، Issue: 8
Publish Year: 1396
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:
JR_IJBMS-20-8_006
تاریخ نمایه سازی: 28 مهر 1400
Abstract:
Objective(s): Mutations in the UGT۱A۱ gene are responsible for hyperbilirubinemia syndromes including Crigler-Najjar type ۱ and ۲ 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 UGTA۱ gene could be useful in molecular diagnosis of the disease. Materials and Methods: In the present study, two polymorphic markers including rs۴۱۴۸۳۲۶ and rs۴۱۲۴۸۷۴ in the UGT۱A۱ gene region were characterized. The markers were selected using bioinformatics analysis of the UGT۱A۱ gene region and genotyped in ۲۱۲ unrelated healthy individuals and ۱۳ family trios in the Iranian population using Tetra-Primer ARMS PCR technique. The allele frequency and population status of the alleles were estimated using GENEPOP, FBAT, PowerMarker and Arlequin software. Results: The results indicated that in the case of rs۴۱۴۸۳۲۶ marker, allele frequency for T and C allele was ۶۶.۰۴% and ۳۳.۹۶%, respectively. For rs۴۱۲۴۸۷۴ marker, allele frequency for G and T alleles was ۳۹.۴% and ۶۰.۶%, respectively. The values of heterozygosity index for the markers examined were ۶۴.۱ for rs۴۱۴۸۳۲۶ and ۷۲.۱ for rs۴۱۲۴۸۷۴, respectively. The haplotype estimation analysis of the markers resulted in three informative haplotypes with frequencies ≥۰.۰۵. Moreover, the results suggested the presence of linkage disequilibrium between two markers. Conclusion: Altogether, the data suggested that rs۴۱۴۸۳۲۶ and rs۴۱۲۴۸۷۴ could be introduced as informative markers for molecular diagnosis of Crigler-Najjar type ۱ and ۲ and Gilbert syndrome in the Iranian population.
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Authors
Zakiye Nadeali
Division of Genetics, Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran
Sadeq Vallian
Division of Genetics, Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran
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