PMID: 2119504Sep 1, 1990Paper

Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17

Proceedings of the National Academy of Sciences of the United States of America
M K YagleE Solomon

Abstract

The von Recklinghausen neurofibromatosis 1 (NF1) locus has been previously assigned to the proximal long arm of chromosome 17, and two NF1 patients have been identified who have constitutional balanced translocations involving 17q11.2. We have constructed a cosmid library from a chromosome-mediated gene transfectant, KLT8, that contains approximately 10% of chromosome 17, including 17q11.2. Cosmids isolated from this library have been mapped across a panel of somatic cell hybrids, including the hybrids from the two patients, and have been localized to seven small regions of proximal 17q. We have 5 cosmids that map directly above the two NF1 translocations, and 11 cosmids that map directly below. Of these, 2 cosmids in each region are linked to the disease locus and 3 of these cosmids show no recombination. One distal cosmid, 2B/B35, detects the two NF1 translocations by pulsed-field gel analysis and has been used to produce a long-range restriction map that covers the translocations.

References

Jul 1, 1989·Trends in Genetics : TIG·F S CollinsB R Seizinger
Jun 2, 1989·Science·J W FountainF S Collins
Sep 1, 1987·Journal of Medical Genetics·C G MathewB A Ponder
Nov 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·W M XuE Solomon
Aug 6, 1987·Nature·C G MathewB A Ponder
Mar 25, 1985·Nucleic Acids Research·P G SealeyE M Southern
Aug 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·D SheerE Solomon

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Citations

Oct 1, 1991·Current Opinion in Neurobiology·R WhiteP O'Connell
Mar 14, 2009·The Tohoku Journal of Experimental Medicine·Misa YamamotoYoshimi Yamamoto
Jun 1, 1991·Current Opinion in Genetics & Development·G A Evans
Jun 1, 1993·American Journal of Medical Genetics·H G BrunnerB C Hamel

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