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Evidence for transforming growth factor–beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from indian sub-continent

Objectives: Orofacial clefts are major human birth defects with complex etiology. Previous studies have proposed Transforming growth factor - beta 3 (TGF-β3) gene as a key player in contributing to non-syndromic cleft lip and palate, however none of the studies have yet included Indian population. H...

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Autores principales: Shaikh, Saleem, Ravenndranath, Rajendran, Banerjee, Moinak, Joseph, Anna, Jahgirdar, Pramod
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medicina Oral S.L. 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3448322/
https://www.ncbi.nlm.nih.gov/pubmed/22143699
http://dx.doi.org/10.4317/medoral.17453
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author Shaikh, Saleem
Ravenndranath, Rajendran
Banerjee, Moinak
Joseph, Anna
Jahgirdar, Pramod
author_facet Shaikh, Saleem
Ravenndranath, Rajendran
Banerjee, Moinak
Joseph, Anna
Jahgirdar, Pramod
author_sort Shaikh, Saleem
collection PubMed
description Objectives: Orofacial clefts are major human birth defects with complex etiology. Previous studies have proposed Transforming growth factor - beta 3 (TGF-β3) gene as a key player in contributing to non-syndromic cleft lip and palate, however none of the studies have yet included Indian population. Hence this study was designed to detect TGF-β3 gene polymorphism in nonsyndromic cleft lip and palate patients from Indian population which is genetically distinct from previously studied populations. Study Design: Peripheral blood samples of forty non-syndromic cleft lip and palate patients and forty unaffected individuals were collected for a case – control study design. Ethical clearance from the institutional review board and informed consent from all subjects was obtained. DNA extracted from the cases and controls was amplified using polymerase chain reaction (PCR) with TGF-β3 specific primers. The obtained fragments were sequenced and TGF-β3 gene polymorphisms were assessed based on the number of CA repeats. Results: Chi –square test was used to compare the case and control groups. Results showed a significant difference in the number of CA repeats between the case and the control groups (p=0.01). Conclusion: This study confirms the crucial role of TGF-β3 in the fusion of palatal shelves during development and further, provides novel evidence of TGF-β3 gene polymorphism in the etiology of nonsyndromic cleft lip and palate in Indian subpopulation. Key words: Orofacial clefts, nonsyndromic cleft lip with/without cleft palate, TGF-β3, Polymerase chain reaction, gene polymorphism.
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spelling pubmed-34483222012-10-11 Evidence for transforming growth factor–beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from indian sub-continent Shaikh, Saleem Ravenndranath, Rajendran Banerjee, Moinak Joseph, Anna Jahgirdar, Pramod Med Oral Patol Oral Cir Bucal Research-Article Objectives: Orofacial clefts are major human birth defects with complex etiology. Previous studies have proposed Transforming growth factor - beta 3 (TGF-β3) gene as a key player in contributing to non-syndromic cleft lip and palate, however none of the studies have yet included Indian population. Hence this study was designed to detect TGF-β3 gene polymorphism in nonsyndromic cleft lip and palate patients from Indian population which is genetically distinct from previously studied populations. Study Design: Peripheral blood samples of forty non-syndromic cleft lip and palate patients and forty unaffected individuals were collected for a case – control study design. Ethical clearance from the institutional review board and informed consent from all subjects was obtained. DNA extracted from the cases and controls was amplified using polymerase chain reaction (PCR) with TGF-β3 specific primers. The obtained fragments were sequenced and TGF-β3 gene polymorphisms were assessed based on the number of CA repeats. Results: Chi –square test was used to compare the case and control groups. Results showed a significant difference in the number of CA repeats between the case and the control groups (p=0.01). Conclusion: This study confirms the crucial role of TGF-β3 in the fusion of palatal shelves during development and further, provides novel evidence of TGF-β3 gene polymorphism in the etiology of nonsyndromic cleft lip and palate in Indian subpopulation. Key words: Orofacial clefts, nonsyndromic cleft lip with/without cleft palate, TGF-β3, Polymerase chain reaction, gene polymorphism. Medicina Oral S.L. 2012-03 2011-12-06 /pmc/articles/PMC3448322/ /pubmed/22143699 http://dx.doi.org/10.4317/medoral.17453 Text en Copyright: © 2012 Medicina Oral S.L. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research-Article
Shaikh, Saleem
Ravenndranath, Rajendran
Banerjee, Moinak
Joseph, Anna
Jahgirdar, Pramod
Evidence for transforming growth factor–beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from indian sub-continent
title Evidence for transforming growth factor–beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from indian sub-continent
title_full Evidence for transforming growth factor–beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from indian sub-continent
title_fullStr Evidence for transforming growth factor–beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from indian sub-continent
title_full_unstemmed Evidence for transforming growth factor–beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from indian sub-continent
title_short Evidence for transforming growth factor–beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from indian sub-continent
title_sort evidence for transforming growth factor–beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from indian sub-continent
topic Research-Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3448322/
https://www.ncbi.nlm.nih.gov/pubmed/22143699
http://dx.doi.org/10.4317/medoral.17453
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