Abstract
Clefts of the lip with or without cleft palate (CL/P) are one of the most common birth defects, occurring in 1/700–1/1000 infants born alive. The nature of the genetic contribution is still to be clarified; however, some chromosome regions and candidate genes have been proposed for this malformation. Recently, a couple of genes, PVR and PVRL2, mapping in the candidate region OFC3 on chromosome 19q13.31, have been investigated because of their homology to PVRL1, a gene previously shown to cause the Margarita Island CL/P-ectodermal dysplasia syndrome. In the present work, we investigated PVR and PVRL2 genes by family-based linkage disequilibrium analysis using a sample collected from the Italian population. In contrast to previous analyses on other populations, we could not find any statistically significant association between the markers alleles and non-syndromic clefting.
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Acknowledgements
This study was supported in part by grants from Telethon E. 1147 (PC), MIUR local projects (FC, FP, and PC), CARIVERONA (FC, UB, EP), Fondazione Cassa di Risparmio di Bologna (FP), and the Fondazione Cassa di Risparmio di Ferrara (FC).
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Pezzetti, F., Palmieri, A., Martinelli, M. et al. Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2. Eur J Hum Genet 15, 992–994 (2007). https://doi.org/10.1038/sj.ejhg.5201868
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DOI: https://doi.org/10.1038/sj.ejhg.5201868
