RESUMEN
OBJECTIVES: Non-syndromic cleft lip with/without cleft palate (nsCL/P) has a complex aetiology involving both genetic and environmental factors. The aim of this study was to investigate the association between PVRL1 gene mutations and Turkish patients with nsCL/P. DESIGN: In this study, 80 Turkish patients with nsCL/P and 125 unrealeted individuals were analyzed. Mutations were detected using polymerase chain reactions and DNA sequencing. RESULTS: We found a novel GGA insertion between nucleotide positions c.1311_1313delGGA in exon 6 of the PVRL1 gene. Fifteen of the 80 patients with nsCL/P had the GGA insertion, although no mutation was found in the 125 unrelated individuals. CONCLUSION: We identified new supportive evidence that the association between PVRL1 gene and nsCL/P.
Asunto(s)
Moléculas de Adhesión Celular/genética , Labio Leporino/genética , Fisura del Paladar/genética , Mutagénesis Insercional , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Nectinas , Reacción en Cadena de la Polimerasa , TurquíaRESUMEN
OBJECTIVE: To investigate the association between MTHFR C677T polymorphism and Turkish patients with nonsyndromic cleft lip and/or palate (nsCL/P) and to determine the prevalence of the Turkish population. PATIENTS AND METHODS: Molecular analysis of gene polymorphisms were carried out using polymerase chain reactions and restriction enzyme digestions. In our study, 80 patients with nsCL/P and 125 unrelated individuals from Turkey were studied. RESULTS: We found that MTHFR C677T polymorphism is a significant risk factor for nsCL/P in Turkey (p=0.0004). These results support the impact of MTHFR C677T polymorphism and importance of folic acid intake in the etiology of nsCL/P. CONCLUSIONS: MTHFR gene which is localized in the relevant region of chromosome 1p36.3 not been studied Turkish patients with nsCL/P and the prevalence of our country not to be determined. We revealed statistically association between the MTHFR C677T gene polymorphism and nonsyndromic cleft lip and/or palate in the Turkish population.