Evaluation of association between TGF-β3 gene variant and non syndromic clefting

Abstract

Context: Non Syndromic Cleft lip/Palate 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: To amplify the chosen region TGF-β3 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 4 steps.Methods and Material: Blood samples were collected from 40 subjects having Non Syndromic Cleft lip/Palate and 40 controls. Genomic DNA was extracted, Polymerase Chain Reaction (PCR) and The obtained fragments were sequenced and TGF-β3 gene polymorphisms were assessed based on the number of CA repeats. Statistical analysis: Chi- square test with P value at 95 % confidence intervals. Results: Results showed a significant difference in the number of CA repeats between the case and the control groups (p=0.01). Conclusions: From a genetically diverse etiology TGF-β3 gene variant may be a good screening marker for Non Syndromic Cleft lip /Palate in Raichur Patients.