Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation

Genomics. 1998 Jul 15;51(2):177-81. doi: 10.1006/geno.1998.5384.

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 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • B-Cell Lymphoma 3 Protein
  • Chromosomes, Human, Pair 19 / genetics*
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Pedigree
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogenes
  • Transcription Factors

Substances

  • B-Cell Lymphoma 3 Protein
  • BCL3 protein, human
  • Genetic Markers
  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins
  • Transcription Factors

Grants and funding