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  • Title: Novel insertion mutation in the PVRL1 gene in Turkish patients with non-syndromic cleft lip with/without cleft palate.
    Author: Aşlar D, Taştan H.
    Journal: Arch Oral Biol; 2014 Mar; 59(3):237-40. PubMed ID: 24581844.
    Abstract:
    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.
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