Exclusion of candidate genes and chromosomal regions in familial neuroblastoma

Int J Mol Med. 2001 Jan;7(1):85-9. doi: 10.3892/ijmm.7.1.85.


Two families with recurrence of neuroblastoma one Italian and one British with three and two affected children respectively were genotyped using polymorphic markers on chromosome 1 spanning the p32-p36 region frequently deleted in neuroblastoma tumor cells. Linkage to this region was excluded by haplotype inspection and negative lod scores. Furthermore, the exclusion of genes involved in neurocristopathies sometimes associated with neuroblastoma was carried out by typing the Italian family with polymorphic markers located in or near the corresponding genes. Finally, linkage analysis in the two families showed negative lod scores for markers spanning the 16p12-13 chromosomal region where a locus for familial neuroblastoma has been recently mapped. Our findings indicate that different genes are involved in the pathogenesis of familial neuroblastoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping*
  • England
  • Family Health
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Italy
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Neuroblastoma / genetics*
  • Neuroblastoma / pathology
  • Pedigree