ABSTRACT
This study was carried out to evaluate the role of MSX1 799 G >T gene polymorphism with non Syndromic cleft lip/palate in Eastern Nepalese patient population. For the study, whole blood samples (2 ml) were obtained from 40 subjects and controls. Genomic DNA was extracted from the blood of the subjects by using ethanol, chloroform treatment. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method was used to check for the presence of polymorphism. The results indicated that a patient has MSX1 799 G>T variant. The patient was a male aged 24 years was a complete unilateral left sided cleft lip/palate involving alveolus, hard and soft palate. He had normal development and no associated anomaly. There was no family history of cleft lip/palate and no history of any teratogenic exposure during embryonic life as revealed by his mother. This may be a case of sporadic polymorphism. It may be concluded that ,although we detected the presence of a MSX1 799 G>T polymorphism in one patient, a further investigation with large sample size, including many SNP’s on families must be performed to get conclusive results.