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.
Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2 / Pezzetti F; Palmieri A; Martinelli M; Scapoli L; Arlotti M; Baciliero U; Padula E; Carinci P; Caramelli E; Carinci F.. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - STAMPA. - 15:(2007), pp. 992-994.
Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2.
PEZZETTI, FURIO;PALMIERI, ANNALISA;MARTINELLI, MARCELLA;SCAPOLI, LUCA;ARLOTTI, MARZIA;CARINCI, PAOLO;CARAMELLI, ELISABETTA;
2007
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
