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