Identification of Single Nucleotide Polymorphism on Bone Morphogenetic Protein 2 Gene in Non-Syndromic Cleft Lip/ Palate Patient

Abstract

Cleft lip/palate (CL/P) is one of the most common birth defects in humans. Haploinsufficiency in genes
Bone Morphogenetic Protein (BMP) 2 is thought to play an important role in the incidence of CL/P. This
study aimed to identify changes in the nucleotide (Single Nucleotide Polymorphism/SNP) BMP 2 rs235768
A>T gene in CL/P patient in Indonesia. Seventy samples of DNA that were successfully amplified and
restricted consisted of patient and control samples with the three of which were used for sequencing. Based
on the analysis using restriction enzymes and Finch TV and Bioedit software programs, this study identified
a change from nucleotide A to nucleotide T which is a mutation missense (Serine-Arginine/TCA-TCT).
Based on the results of the Fisher’s exact test, there was difference in genotype frequency between the CL/P
group and the control. Meanwhile, there was no difference in allele frequencies between the two groups. The
allele frequency T has a higher value than the frequency of the allele A.