MSX 1 gene variant and non-syndromic clefting: Association or rejection?

Abstract

Context: Non-syndromic cleft lip/palate (NSCL/P) is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. Aims: The aim of this study is to amplify the chosen region (799 G >T) of MSX 1 gene, investigate the degree of association and perform a mutation research from Raichur cleft lip and palate patient sample. Settings and Design: Case history and clinical examination of the patient were recorded to rule. Written consent was obtained from patients and controls for in vivo study. Study was designed in four steps as follows: Collection of a blood sampleGenomic deoxyribonucleic acid (DNA) extractionPolymerase chain reaction (PCR)Restriction fragment length polymorphism (RFLP). Materials and Methods: Blood samples were collected from 50 subjects having NSCL/P and 50 controls. Genomic DNA was extracted, PCR and RFLP was performed for digestion products that were evaluated. Statistical Analysis: Chi-square test with P value at 95% confidence intervals. Results: The results showed a positive correlation between MSX 1 799 G >T gene variant and NSCL/P patients in Raichur patients. Conclusions: From a genetically diverse etiology MSX 1 799 G >T gene variant may be a good screening marker for NSCL/P in Raichur patients.

Keywords

• MSX 1 gene
• non-syndromic clefting
• polymerase chain reaction