Nonsyndromic cleft lip with or without cleft palate (OFC) is a common birth defect that has genetic bases. The nature of the genetic contribution is still to be clarified; however, some chromosome regions and candidate genes have been proposed for this malformation. We examined linkage between BCL3, a protooncogene located in 19q13.2, and OFC in a sample composed of 40 multiplex pedigrees using both nonparametric and parametric methods. The affected pedigree member statistics and the transmission disequilibrium test supported a role for BCL3 in causing OFC, while no evidence of linkage or genetic heterogeneity was found with the lod score method.
Marcella Martinelli, L.S. (1998). Suggestive linkage between markers on chromosome 19q13.2 and Nonsyndromic orofacial cleft malformation. GENOMICS, 51(2), 177-181 [10.1006/geno.1998.5384].
Suggestive linkage between markers on chromosome 19q13.2 and Nonsyndromic orofacial cleft malformation
Marcella MartinelliPrimo
Writing – Original Draft Preparation
;Luca ScapoliFormal Analysis
;Furio Pezzetti;Paolo CarinciFunding Acquisition
;
1998
Abstract
Nonsyndromic cleft lip with or without cleft palate (OFC) is a common birth defect that has genetic bases. The nature of the genetic contribution is still to be clarified; however, some chromosome regions and candidate genes have been proposed for this malformation. We examined linkage between BCL3, a protooncogene located in 19q13.2, and OFC in a sample composed of 40 multiplex pedigrees using both nonparametric and parametric methods. The affected pedigree member statistics and the transmission disequilibrium test supported a role for BCL3 in causing OFC, while no evidence of linkage or genetic heterogeneity was found with the lod score method.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
