Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation.
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.
Department of Morphology and Embryology, School of Medicine, University of Ferrara, Italy.
M
M
Martinelli
L
L
Scapoli
F
F
Pezzetti
F
F
Carinci
P
P
Carinci
U
U
Baciliero
E
E
Padula
M
M
Tognon
D000081242:B-Cell Lymphoma 3 Protein; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D010375:Pedigree; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011519:Proto-Oncogenes; D014157:Transcription Factors
D000081242:B-Cell Lymphoma 3 Protein; C000631344:BCL3 protein, human; D005819:Genetic Markers; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D014157:Transcription Factors