Proc Natl Acad Sci U S A. 1990 Sep;87(18):7255-9.

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

Yagle MK, Parruti G, Xu W, Ponder BA, Solomon E.

Source

Somatic Cell Genetics Laboratory, Imperial Cancer Research Fund, London, United Kingdom.

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.

PMID:: 2119504; [PubMed - indexed for MEDLINE]
PMCID:: PMC54722

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