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.
Martinelli
M
M
Department of Morphology and Embryology, School of Medicine, University of Ferrara, Italy.
Scapoli
L
L
Pezzetti
F
F
Carinci
F
F
Carinci
P
P
Baciliero
U
U
Padula
E
E
Tognon
M
M
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