Association of transforming growth factor beta 3 gene (rs3917168, rs3917177) variants with nonsyndromic cleft lip/palate in south indian population

Author: 
Sajay Abraham., Dharma.R.M., Akshai Shetty., Amarnath., Dinesh., Prashanth., Roopak David and Shivaprasad G

Introduction: Non-syndromic Cleft lip & Palate(NSCLP) is a congenital deformity of multi factorial origin. The aim of this study was to evaluate the association of TGFβ3 gene variants rs3917168 and rs3917177 with NSCLP.
Methods: DNA samples of 25 subjects with NSCLP and 25 unrelated controls were used for the study. The extracted DNA samples were subjected to Polymerase chain reaction in which amplification of the selected gene segments was done; later these amplified products were subjected to Restriction Fragment Length Polymorphism using XapI(Xanthomonas ampelina) and PaeI (Pseudomonas aeruginosa) restriction enzyme.
Results: This study suggests that the likelihood of NSCLP is higher in subjects having
AT genotype of TGFβ3 gene variant rs3917168 and CC and GG genotype of rs3917177 and lesser in subjects having AA and TT genotype of TGFβ3 gene variant rs3917168 and CG genotype of rs3917177.
Conclusion: The result suggests that TGFβ3 gene variants rs3917168 and rs3917177 can be used as genetic markers for NSCLP in local population.

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DOI: 
http://dx.doi.org/10.24327/ijcar.2021.25708.5135
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