Determination of MSX1 gene which is P278S polymorphism in Turkish patients with nonsyndromic cleft lip and/or palate

Cleft lip and/or cleft palate is one of the most common congenital malformation. This abnormality arise both with the combination of genetic and environmental factors. Genetic factors are the genes like MSX1, which takes place during embryological development. In this study, we planned to evaluate the effect of the candidate gene and regions on the incidence of nonsyndromic cleft lip-palate by mutation analyzes, therefore reveal the risks of the development of the nonsyndromic cleft lip-palate and contribute the oncoming studies.The blood samples used in our study, were obtained with signed voluntary consent forms from Turkish patients with nonsyndromic cleft lip/palate admitted to Ankara University Faculty of Dentistry. Genomic DNA was isolated with phenol-chloroform method from peripheral blood samples from the patients. Polymerase chain reaction method was used to determine P278S polymorphism on MSX1 gene. RFLP method was applied to the polymerase chain reaction products. Restriction Endonuclease enzymes were used to cut the gene into fragments to determine P278S mutation in the samples. These gene fragments were analyzed with %2 agarose gel electrophoresis and photos were taken in gel imaging device. In patients with nonsyndromic cleft lip/palate received the study group, P278S changes in MSX1 gene were revealed by molecular methods and the datas which were obtained were evaluated statistically. For statistical analysis, Pearson chi-square test and Hardy- Weinberg Equilibrium test were used. According to these tests, no significant difference was observed for P278S polymorphism in MSX1 gene.Key Words : Cleft lip, cleft palate, nonsyndromic cleft lip and/or palate, PCR-RFLP, DNA, mutation, polimorphism