BMP4 SNP Rs17563 T>C Gene Polymorphism on Non-Syndromic Cleft Lip/Palate in an Indonesian Population

摘要

Cleft lip with or without cleft palate (CL/P) is one of the most common congenital abnormalities with a complex etiology. The prevalence of these cases varies according to ethnicity and place. One of the candidate genes associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) incidence is the Bone Morphogenetic Protein 4 (BMP4) gene. BMP4 is a candidate gene that is thought to play a role in the incidence (CL/P) through signal polarization. This study aimed to analyze the genotype of BMP4 rs17563 T>C with the incidence (CL/P). The research method used was polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The number of DNA samples analyzed by single-nucleotide polymorphism (SNP) was 70 samples, consisting of 34 patient samples and 36 control samples. The statistical analysis used was the Fisher’s exact test to analyze the significance of the difference in frequency in the two groups. The results show that there is a variation in the genotype of BMP4 polymorphism rs17563 T>C, but there is no significant difference between genotypes or alleles of NSCL/P patients and healthy individuals among the sampled Indonesian population.