title: Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2.
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.
authors.affiliation: Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Bologna, Italy.
authors.forename: Furio
authors.initials: F
authors.lastname: Pezzetti
authors.forename: Annalisa
authors.initials: A
authors.lastname: Palmieri
authors.forename: Marcella
authors.initials: M
authors.lastname: Martinelli
authors.forename: Luca
authors.initials: L
authors.lastname: Scapoli
authors.forename: Marzia
authors.initials: M
authors.lastname: Arlotti
authors.forename: Ugo
authors.initials: U
authors.lastname: Baciliero
authors.forename: Ernesto
authors.initials: E
authors.lastname: Padula
authors.forename: Paolo
authors.initials: P
authors.lastname: Carinci
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Caramelli
authors.forename: Francesco
authors.initials: F
authors.lastname: Carinci
mesh_terms: D000328:Adult; D000483:Alleles; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002648:Child; D002888:Chromosomes, Human, Pair 19; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007558:Italy; D015810:Linkage Disequilibrium; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D000075983:Nectins; D020641:Polymorphism, Single Nucleotide; D011991:Receptors, Virus / Q000235:genetics*
chemical_list: D015815:Cell Adhesion Molecules; D005819:Genetic Markers; D008565:Membrane Proteins; C000619010:NECTIN1 protein, human; D000075983:Nectins; D011991:Receptors, Virus; C066100:poliovirus receptor