Suggestive Linkage between Markers on Chromosome 19q13.2 and Nonsyndromic Orofacial Cleft Malformation

• Published in: Genomics (San Diego, Calif.) Vol. 51; no. 2; pp. 177 - 181
• Main Authors: Martinelli, Marcella, Scapoli, Luca, Pezzetti, Furio, Carinci, Francesco, Carinci, Paolo, Baciliero, Ugo, Padula, Ernesto, Tognon, Mauro
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 15.07.1998; Elsevier
• Subjects: B-Cell Lymphoma 3 Protein; Biological and medical sciences; Chromosomes, Human, Pair 19 - genetics; Cleft Lip - genetics; Cleft Palate - genetics; Genetic Linkage; Genetic Markers; Humans; Medical sciences; Non tumoral diseases; Otorhinolaryngology (head neck, general aspects and miscellaneous); Otorhinolaryngology. Stomatology; Pedigree; Proto-Oncogene Mas; Proto-Oncogene Proteins - genetics; Proto-Oncogenes; Transcription Factors; Genetic mapping; Human; Linkage; Stomatology; Cleft; Congenital disease; Chromosome F19; Lip; Association; Malformation; Predisposition; Oral cavity disease; Palate
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1998.5384

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 proto-oncogene 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.