Transforming growth factor-β3 intron 5 polymorphism as a screening marker for non-syndromic cleft lip with or without cleft palate

Ulucan,Korkut; Bayraktar,Nazli; Parmaksiz,Emine; Akcay,Arzu; Güney,Ahmet  Ilter

doi:10.3892/mmr.2012.1097

Transforming growth factor-β3 intron 5 polymorphism as a screening marker for non-syndromic cleft lip with or without cleft palate

Authors:
- Korkut Ulucan
- Nazli Bayraktar
- Emine Parmaksiz
- Arzu Akcay
- Ahmet Ilter Güney
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Affiliations: Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Üsküdar University, Istanbul, Turkey, Department of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Education and Research Hospital, Istanbul, Turkey, Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey
Published online on: September 26, 2012 https://doi.org/10.3892/mmr.2012.1097
Pages: 1465-1467

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Abstract

In this study, we evaluated the effect of transforming growth factor β3 intron 5 position +104 A➝G (TGF-β3 IVS5+104AG) transition in patients with a non‑syndromic cleft lip with or without cleft palate (NSCL/P). A total of 68 patients and 114 controls were recruited for the study. A genotyping procedure was carried out using the PCR-RFLP method. For statistical analysis, the Chi-square test was used to compare data between the patient and control groups. The frequencies of the AA, AG and GG genotypes were 24, 29 and 47%, respectively, for the patients and 54, 36 and 10%, respectively, for the control group. The GG genotype and G allele were significantly different in the patient group compared with the control (p=0.0001). We conclude that SfaN1 polymorphism in TGF-β3 may be a good screening marker for the prediction of NSCL/P in patients. However, more studies with extended sample numbers should be carried out to clarify the effect of the examined gene region on NSCL/P.

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