title: Transforming growth factor-β3 intron 5 polymorphism as a screening marker             for non-syndromic cleft lip with or without cleft palate.
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.
authors.affiliation: Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Üsküdar University, Istanbul, Turkey. korkutulucan@hotmail.com
authors.forename: Korkut
authors.initials: K
authors.lastname: Ulucan
authors.forename: Nazli
authors.initials: N
authors.lastname: Bayraktar
authors.forename: Emine
authors.initials: E
authors.lastname: Parmaksiz
authors.forename: Arzu
authors.initials: A
authors.lastname: Akcay
authors.forename: Ahmet Ilter
authors.initials: AI
authors.lastname: Güney
mesh_terms: D000483:Alleles; D002971:Cleft Lip / Q000150:complications / Q000235:genetics*; D002972:Cleft Palate / Q000150:complications / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007438:Introns; D020641:Polymorphism, Single Nucleotide; D053782:Transforming Growth Factor beta3 / Q000235:genetics*
chemical_list: D053782:Transforming Growth Factor beta3