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

Publication ,  Journal Article
Pericak-Vance, MA; Yamaoka, LH; Vance, JM; Small, K; Rosenwasser, GO; Gaskell, PC; Hung, WY; Alberts, MJ; Haynes, CS; Speer, MC
Published in: Genomics
December 1987

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.

Duke Scholars

Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

December 1987

Volume

1

Issue

4

Start / End Page

349 / 352

Location

United States

Related Subject Headings

  • Skin Neoplasms
  • Pedigree
  • Neurofibromatosis 1
  • Male
  • Lod Score
  • Humans
  • Hamartoma
  • Genetics & Heredity
  • Genetic Markers
  • Female
 

Citation

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Pericak-Vance, M. A., Yamaoka, L. H., Vance, J. M., Small, K., Rosenwasser, G. O., Gaskell, P. C., … Speer, M. C. (1987). Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1). Genomics, 1(4), 349–352. https://doi.org/10.1016/0888-7543(87)90036-x
Pericak-Vance, M. A., L. H. Yamaoka, J. M. Vance, K. Small, G. O. Rosenwasser, P. C. Gaskell, W. Y. Hung, M. J. Alberts, C. S. Haynes, and M. C. Speer. “Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1).Genomics 1, no. 4 (December 1987): 349–52. https://doi.org/10.1016/0888-7543(87)90036-x.
Pericak-Vance MA, Yamaoka LH, Vance JM, Small K, Rosenwasser GO, Gaskell PC, et al. Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1). Genomics. 1987 Dec;1(4):349–52.
Pericak-Vance, M. A., et al. “Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1).Genomics, vol. 1, no. 4, Dec. 1987, pp. 349–52. Pubmed, doi:10.1016/0888-7543(87)90036-x.
Pericak-Vance MA, Yamaoka LH, Vance JM, Small K, Rosenwasser GO, Gaskell PC, Hung WY, Alberts MJ, Haynes CS, Speer MC. Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1). Genomics. 1987 Dec;1(4):349–352.
Journal cover image

Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

December 1987

Volume

1

Issue

4

Start / End Page

349 / 352

Location

United States

Related Subject Headings

  • Skin Neoplasms
  • Pedigree
  • Neurofibromatosis 1
  • Male
  • Lod Score
  • Humans
  • Hamartoma
  • Genetics & Heredity
  • Genetic Markers
  • Female