Characterisation of 16 polymorphic markers in the NF2 gene: application to hemizygosity detection

Hum Mutat. 1999;13(4):290-3. doi: 10.1002/(SICI)1098-1004(1999)13:4<290::AID-HUMU5>3.0.CO;2-C.

Abstract

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to nervous system tumors. Point mutations are evidenced in about 50% of the NF2 patients and large genomic deletions account for approximately 33% of the NF2 gene alterations. To facilitate the deletion screening, 16 polymorphic markers were identified in the NF2 genomic sequence enabling an hemizygosity test in familial studies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Primers
  • Female
  • Genetic Markers
  • Heterozygote*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Membrane Proteins / genetics*
  • Microsatellite Repeats
  • Neurofibromatosis 2 / genetics*
  • Neurofibromin 2
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*

Substances

  • DNA Primers
  • Genetic Markers
  • Membrane Proteins
  • Neurofibromin 2

Associated data

  • GENBANK/Y18000