A discordant sibship analysis between beta-NGF and neurofibromatosis

Am J Hum Genet. 1985 Jan;37(1):52-9.

Abstract

A new restriction fragment length polymorphism 5' to the beta-nerve growth factor (beta-NGF) gene has been found in proximity to the BglII polymorphism, and both polymorphisms are detectable with an EcoRI 7-kilobase (kb) subclone. Absence of the TaqI recognition site lengthens the 4.3-kb and 1.7-kb hybridizing fragments to 6 kb, and the alleles are in Hardy-Weinberg equilibrium with frequencies of 83% and 17%, respectively. Previous research has suggested that NGF is involved in disseminated neurofibromatosis (NF). We found four informative disseminated NF families with the two beta-NGF polymorphisms and have provided clearcut evidence against beta-NGF gene alteration in these families. If disseminated NF is found to be heterogeneous at a molecular level, more families should be tested to further rule out any role for beta-NGF in this syndrome.

Publication types

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

MeSH terms

  • Base Sequence
  • Cloning, Molecular
  • DNA Restriction Enzymes
  • Female
  • Genetic Markers
  • Genetic Variation*
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Nerve Growth Factors / genetics*
  • Neurofibromatosis 1 / genetics*
  • Pedigree
  • Polymorphism, Genetic

Substances

  • Genetic Markers
  • Nerve Growth Factors
  • DNA Restriction Enzymes