@article{cf021e704dd84a20b45509b1e453dd20,
title = "Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1)",
abstract = "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 ({\^θ} = 0.04) and between NF1 and D17S71 ({\^θ} = 0.08). A defnite 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.",
author = "Pericak-Vance, {M. A.} and Yamaoka, {L. H.} and Vance, {J. M.} and K. Small and Rosenwasser, {G. O D} and Gaskell, {P. C.} and Hung, {W. Y.} and Alberts, {M. J.} and Haynes, {C. S.} and Speer, {M. C.} and Gilbert, {J. R.} and M. Herbstreith and Aylsworth, {A. S.} and Roses, {A. D.}",
note = "Funding Information: We thank Drs. David Barker, Hunt Willard, and Moses V. Chao for generously providing us with the probes D17S71, Dl7Z1, and pE51 used in the analysis. The authors also thank Peggy Pate and Helen Harbett for their technical assistance in preparing the pedigree data; Laurita Melton for typing assistance; Wendy Smith, Fiona Francis, and John Pufky for their expert technical assistance in preparing the DNA blots; and Mike Wilkinson, Eddie Hanson, and Sharon Musick for the DNA and cell line preparation. Funding for this project was provided by NIH Research Grants NS23998 and NS19999 and a grant from the Denver Fund for Health and Research.",
year = "1987",
month = dec,
doi = "10.1016/0888-7543(87)90036-X",
language = "English (US)",
volume = "1",
pages = "349--352",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "4",
}