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  • Title: TGFA/TAQ I polymorphism in nonsyndromic cleft lip and palate patients from Rio Grande Do Sul, Brazil.
    Author: Ehlers Bertoja A, Sampaio Alho C, De França E, Menegotto B, Miriam Robinson W.
    Journal: Cleft Palate Craniofac J; 2008 Sep; 45(5):539-44. PubMed ID: 18788876.
    Abstract:
    OBJECTIVE: To test the TGFA/Taq I polymorphism in the development of nonsyndromic cleft lip and palate. DESIGN AND SETTING: The research was based on a case-control study, including nonsyndromic cleft lip and palate patients (140 individuals) and a control sample of unaffected individuals (142) to ascertain the absence or presence of genic mutation at the TGFA locus. INTERVENTIONS: The DNA of carriers of nonsyndromic cleft lip with or without cleft palate was obtained by buccal swab, and the DNA of the control group was extracted from peripheral blood leucocytes. TGFA/Taq I polymorphism was determined genetically by polymerase chain reaction using specific primers and fragment digestion with Taq I restriction enzyme. RESULTS: No significant association was detected when patients and controls were compared with the genotype for TGFA/Taq I polymorphism. CONCLUSION: Mutations in TGFA gene have no association with nonsyndromic cleft lip and palate in the sample from Rio Grande do Sul. Therefore, based on this study, it is not possible to determine the role played by TGFA in the expression of cleft lip and palate.
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