The Polymorphism of Gene Reduced Folate Carrier 1 (RFC1) A80G Not Difference Between NSCLP Case and Control in Sumatera Utara, Indonesia

Abstract

Cleft lip is the second most frequent congenital anomalies in Indonesia after Down Syndrome with the prevalence among children aged 24-59 months. 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. Some genes involved in the folate metabolism have been recently examined in order to discover the genetic factors in the cleft lip etiology. This research intends to compare polymorphism in the Reduced Folate Carrier 1 A80G between subject with non syndromic cleft lip and palate (NSCLP) and control subject in the population of Sumatera Utara. In this case control study, 62 patients NSCLP and 61 controls underwent DNA isolation and genotyping process using Polymerase Chain Reaction – Restriction Fragment Length Polymorphism (PCR-RFLP).The distribution of genotype and allele variants between the case and control were not significantly different (p=0.271, p=0.809). In Conclusion, This research obtained the data that polymorphism RFC1 A80G mutant variant did not difference between case with NSCLP and control in the population of Sumatera Utara.