Localization of a hereditary neuroblastoma predisposition gene to 16p12-p13

Med Pediatr Oncol. 2000 Dec;35(6):526-30. doi: 10.1002/1096-911x(20001201)35:6<526::aid-mpo5>3.0.co;2-s.

Abstract

Background: Hereditary predisposition to develop neuroblastoma segregates as an autosomal dominant Mendelian trait.

Procedure: We have performed linkage analysis on 10 families with neuroblastoma to localize a hereditary neuroblastoma predisposition gene (HNB1).

Results: A single genomic interval at chromosome bands 16p12-p13 was consistent with linkage (lod = 3.46), and identification of informative recombinants defined a 25.9-cM critical region between D16S748 and D16S3068. Loss of heterozygosity was identified in 5/12 familial (42%) and 55/259 nonfamilial (21%) neuroblastomas at multiple 16p polymorphic loci. A 12.8-cM smallest region of overlap of deletions was identified within the interval defined by linkage analysis (tel-D16S764-D16S412-cen).

Conclusions: Taken together, these data suggest that HNB1 is located at 16p12-p13 and that inactivation of this gene may contribute to the pathogenesis of nonfamilial neuroblastomas.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 16 / genetics*
  • Genetic Linkage
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Loss of Heterozygosity
  • Neuroblastoma / genetics*
  • Pedigree