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. 2007 Sep;15(9):992-4.
doi: 10.1038/sj.ejhg.5201868. Epub 2007 May 30.

Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2

Furio Pezzetti  1 , Annalisa Palmieri, Marcella Martinelli, Luca Scapoli, Marzia Arlotti, Ugo Baciliero, Ernesto Padula, Paolo Carinci, Elisabetta Caramelli, Francesco Carinci
Affiliations

Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2

Furio Pezzetti et al. Eur J Hum Genet. 2007 Sep.

Abstract

Clefts of the lip with or without cleft palate (CL/P) are one of the most common birth defects, occurring in 1/700-1/1,000 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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