Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q

Hum Genet. 1993 May;91(4):357-61. doi: 10.1007/BF00217356.

Abstract

The gene for autosomal, dominantly inherited, non-chromaffin paragangliomas has previously been mapped at 11q23-qter by linkage analysis of a single family. In the present study, we have used genetic markers from 11q for the analysis of two distantly related pedigrees with the same disorder. Linkage analysis and haplotyping indicate that the gene underlying the disorder in the present family is located on chromosome 11q proximal to the tyrosinase gene locus (11q14-q21). Closely linked markers are the human homologue of the murine INT2 protooncogene and the anonymous DNA marker D11S527. A maximum lod score of 5.4 (theta = 0.0) has been obtained for linkage between the disorder and the chromosomal region defined by these markers. The human INT2 gene can be regarded as a candidate for the disorder on the basis of its expression pattern during embryogenesis in the mouse. However, haplotype analysis indicates that this gene is probably not the predisposing genetic factor in the present family.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • Fathers
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Glomus Jugulare Tumor / genetics*
  • Head and Neck Neoplasms / genetics*
  • Humans
  • Male
  • Neoplastic Syndromes, Hereditary / genetics*
  • Paraganglioma, Extra-Adrenal / genetics*
  • Pedigree
  • Proto-Oncogenes
  • Sex Factors