Linkage studies with chromosome 17 DNA markers in 45 neurofibromatosis 1 families.

A locus for von Recklinghausen neurofibromatosis (NF1) has recently been mapped near the chromosome 17 centromere. We have extended these linkage studies by genotyping 45 NF1 families with three DNA probes known to be linked to the chromosome 17 centromeric region. Of 34 families informative for NF1 and at least one of the three probes, 28 families show no recombinants with the disease gene. These data provide additional support for genetic homogeneity of NF1 and for a primary NF1 locus linked to the chromosome 17 centromere. Among the informative families were 7 families with apparent new NF1 mutations. Our data suggest that these mutations are probably at the chromosome 17 NF1 locus.
AuthorsK Stephens, V M Riccardi, M Rising, S Ng, P Green, F S Collins, K S Rediker, J A Powers, C Parker, H Donis-Keller
JournalGenomics (Genomics) Vol. 1 Issue 4 Pg. 353-7 (Dec 1987) ISSN: 0888-7543 [Print] UNITED STATES
PMID2896629 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Genetic Markers
  • DNA
  • Chromosomes, Human, Pair 17
  • DNA (analysis)
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Mutation
  • Neurofibromatosis 1 (genetics)
  • Polymorphism, Restriction Fragment Length
  • Recombination, Genetic

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