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

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. The authors 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. They 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.

Authors:
; ; ;  [1];  [2]
  1. (Somatic Cell Genetics Lab., London (England))
  2. (Univ. of Cambridge (England))
Publication Date:
OSTI Identifier:
5450886
Resource Type:
Journal Article
Journal Name:
Proceedings of the National Academy of Sciences of the United States of America; (United States)
Additional Journal Information:
Journal Volume: 87:18; Journal ID: ISSN 0027-8424
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; COSMIDS; GENETIC MAPPING; HUMAN CHROMOSOME 17; DOMINANT MUTATIONS; CHROMOSOMAL ABERRATIONS; ELECTROPHORESIS; HEREDITARY DISEASES; PATIENTS; RFLPS; CHROMOSOMES; DISEASES; MAPPING; MUTATIONS; 550400* - Genetics

Citation Formats

Yagle, M.K., Parruti, G., Xu, W., Solomon, E., and Ponder, B.A.J.. Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17. United States: N. p., 1990. Web. doi:10.1073/pnas.87.18.7255.
Yagle, M.K., Parruti, G., Xu, W., Solomon, E., & Ponder, B.A.J.. Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17. United States. doi:10.1073/pnas.87.18.7255.
Yagle, M.K., Parruti, G., Xu, W., Solomon, E., and Ponder, B.A.J.. Sat . "Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17". United States. doi:10.1073/pnas.87.18.7255.
@article{osti_5450886,
title = {Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17},
author = {Yagle, M.K. and Parruti, G. and Xu, W. and Solomon, E. and Ponder, B.A.J.},
abstractNote = {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. The authors 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. They 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.},
doi = {10.1073/pnas.87.18.7255},
journal = {Proceedings of the National Academy of Sciences of the United States of America; (United States)},
issn = {0027-8424},
number = ,
volume = 87:18,
place = {United States},
year = {1990},
month = {9}
}