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

M. A. Pericak-Vance, L. H. Yamaoka, J. M. Vance, K. Small, G. O D Rosenwasser, P. C. Gaskell, W. Y. Hung, M. J. Alberts, C. S. Haynes, M. C. Speer, J. R. Gilbert, M. Herbstreith, A. S. Aylsworth, A. D. Roses

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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 (θ̂ = 0.04) and between NF1 and D17S71 (θ̂ = 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.

Original languageEnglish (US)
Pages (from-to)349-352
Number of pages4
JournalGenomics
Volume1
Issue number4
DOIs
StatePublished - 1987

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Chromosomes, Human, Pair 17
Neurofibromatoses
Genetic Linkage
Restriction Fragment Length Polymorphisms
Chromosomes, Human, Pair 19
Genetic Markers
Libraries
DNA
Genes

ASJC Scopus subject areas

  • Genetics

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Pericak-Vance, M. A., Yamaoka, L. H., Vance, J. M., Small, K., Rosenwasser, G. O. D., Gaskell, P. C., ... Roses, A. D. (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

Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1). / Pericak-Vance, M. A.; Yamaoka, L. H.; Vance, J. M.; Small, K.; Rosenwasser, G. O D; Gaskell, P. C.; Hung, W. Y.; Alberts, M. J.; Haynes, C. S.; Speer, M. C.; Gilbert, J. R.; Herbstreith, M.; Aylsworth, A. S.; Roses, A. D.

In: Genomics, Vol. 1, No. 4, 1987, p. 349-352.

Research output: Contribution to journalArticle

Pericak-Vance, MA, Yamaoka, LH, Vance, JM, Small, K, Rosenwasser, GOD, Gaskell, PC, Hung, WY, Alberts, MJ, Haynes, CS, Speer, MC, Gilbert, JR, Herbstreith, M, Aylsworth, AS & Roses, AD 1987, 'Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1)', Genomics, vol. 1, no. 4, pp. 349-352. https://doi.org/10.1016/0888-7543(87)90036-X
Pericak-Vance MA, Yamaoka LH, Vance JM, Small K, Rosenwasser GOD, Gaskell PC et al. Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1). Genomics. 1987;1(4):349-352. https://doi.org/10.1016/0888-7543(87)90036-X
Pericak-Vance, M. A. ; Yamaoka, L. H. ; Vance, J. M. ; Small, K. ; Rosenwasser, G. O D ; Gaskell, P. C. ; Hung, W. Y. ; Alberts, M. J. ; Haynes, C. S. ; Speer, M. C. ; Gilbert, J. R. ; Herbstreith, M. ; Aylsworth, A. S. ; Roses, A. D. / Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1). In: Genomics. 1987 ; Vol. 1, No. 4. pp. 349-352.
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