The Polymorphism Identification of Reduced Folate Carrier 1 (RFC1) in Patients of Non Syndromic Cleft Lip with or Without Cleft Palate in Sumatera Utara
Journal Title: International journal of Emerging Trends in Science and Technology - Year 2017, Vol 4, Issue 10
Abstract
Research Objective: Cleft lip is the second most frequent congenital anomalies in Indonesia after Down Syndrome with the prevalence among children aged 24-59 months (Agency of Health Research and Development, Indonesian Ministry of Health, 2013). The etiology of non syndromic cleft lip with or without cleft palate has not yet been defined. Some studies have investigated the involvement of genetic and environmental factors (Blanton et al., 2011; Wehby & Murray, 2011). Some genes involved in the folate metabolism have been recently examined in order to discover the genetic factors in the cleft lip etiology. Reduced Folate Carrier 1 (RFC1) protein is not directly involved in the folic acid metabolism but plays a significant role in the intracellular transport of metabolically active 5-methyltetrahydrofolate (MTHF) and maintains the intracellular concentrations of folate. This research intends to identify polymorphism in the Reduced Folate Carrier 1 (RFC1) in the patients of non syndromic cleft lip with or without cleft palate in Sumatera Utara. Methods: A number of 46 patients of cleft lip without cleft palate participated in this descriptive study. Subjects' DNAs were extracted from the patients' peripheral leukocytes followed by genotyping procedure on RFC1 A80G gene using Polymerase Chain Reaction – Restriction Fragment Length Polymorphism (PCRRFLP). Results: Genotype distributions of the subject groups followed Hardy-Weinberg Equilibrium. The mutant genotype frequency (AG+GG) of the subject groups was 63% (29/46). Conclusion This research confirms the hypothesis that RFC1 A80G mutant variant holds a greater proportion in the patients of non syndromic cleft lip with or without cleft palate in Sumatera Utara
Authors and Affiliations
Budi Yulhasfi Febrianto
Keywords
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