Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1).

Journal Article (Journal Article)

Recent localization of the gene for von Recklinghausen neurofibromatosis (NF1) to chromosome 17 has led to studies to identify additional tightly linked probes that can be used in defining the primary genetic defect in NF1. We have examined and obtained blood for DNA linkage studies on over 250 individuals from 10 multigeneration neurofibromatosis families. We have analyzed 130 members in 7 families with the available chromosome 17 NF1 linked probes, pE51, D17S71, and D17Z1, as well as two probes generated from our own chromosome 17/19 enriched library (LDR92, LDR152A). Tight linkage was found between NF1 and the centromeric probe D17Z1 (theta = 0.04) and between NF1 and D17S71 (theta = 0.08). A definite recombinant was seen for the D17Z1 marker, which previously had not exhibited crossingover. Chromosome 17 DNA markers pE51, LDR92, and LDR152A gave slightly positive scores, which were not statistically significant.

Full Text

Duke Authors

Cited Authors

  • Pericak-Vance, MA; Yamaoka, LH; Vance, JM; Small, K; Rosenwasser, GO; Gaskell, PC; Hung, WY; Alberts, MJ; Haynes, CS; Speer, MC

Published Date

  • December 1987

Published In

Volume / Issue

  • 1 / 4

Start / End Page

  • 349 - 352

PubMed ID

  • 3130305

International Standard Serial Number (ISSN)

  • 0888-7543

Digital Object Identifier (DOI)

  • 10.1016/0888-7543(87)90036-x


  • eng

Conference Location

  • United States