M. Martinelli et al., SUGGESTIVE LINKAGE BETWEEN MARKERS ON CHROMOSOME 19Q13.2 AND NONSYNDROMIC OROFACIAL CLEFT MALFORMATION, Genomics (San Diego, Calif.), 51(2), 1998, pp. 177-181
Nonsyndromic cleft lip with or without cleft palate (OFC) is a common
birth defect that has genetic bases. The nature of the genetic contrib
ution is still to be clarified; however, some chromosome regions and c
andidate genes have been proposed for this malformation. We examined l
inkage between BCL3, a proto-oncogene located in 19q13.2, and OFC in a
sample composed of 40 multiplex pedigrees using both nonparametric an
d parametric methods. The affected pedigree member statistics and the
transmission disequilibrium test supported a role for BCL3 ire causing
OFC, while no evidence of linkage or genetic heterogeneity was found
with the lod score method. (C) 1998 Academic Press.