ABSTRACT
The etiology of Non-Syndromic Cleft Lip and Palate (NSCLP) 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 to discover the genetic factors in the cleft lip etiology. This research intends to identify the involvement 240of polymorphism in the Reduced Folate Carrier 1 (RFC1) A80G with NSCLP in the population of Sumatera Utara. In this case-control study, 62 NSCLP patients and 61 controls underwent DNA isolation and genotyping process using 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 the subgroup analysis, the polymorphism of RFC1 A80G showed a significant relationship in the group of CLO + CPO. The data obtained through this research confirms that the RFC1 A80G mutant variant has a relationship with NSCLP.
