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PMID: 2573276 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Refined physical and genetic mapping of the NF1 region on chromosome 17.

American journal of human genetics ·Vol. 45 ·No. 5 ·1989-11-00 ·Pages 721-8

Fain PR, Goldgar DE, Wallace MR, Collins FS, Wright E, Nguyen K, Barker DF

Abstract

A total of 15 polymorphic markers were used to construct a genetic map that encompasses the NF1 locus on chromosome 17. The markers were a subset of a large collection of chromosome 17-specific probes and were selected for marker typing in NF1 families after physical localization to the pericentric region of the chromosome. Multilocus data for a total of 17 informative NF1 families and 39 other families were included in genetic analyses. No recombination was observed between NF1 and four markers, one or more of which was informative in 86% of parents. More-refined physical mapping studies demonstrated that all four of the markers are proximal to the chromosome 17 translocation breakpoints from two NF1 patients bearing balanced translocations. The region flanking the disease locus spans a distance of 1 centimorgan (cM) in males and 9 cM in females. Close flanking markers were informative in 76% of meioses. Sex differences in recombination rates in the pericentric region were highly significant statistically.

MeSH Terms
Chromosomes, Human, Pair 17 Crystallins/genetics Genetic Linkage Humans Neurofibromatosis 1/genetics Polymorphism, Restriction Fragment Length Recombination, Genetic
Chemicals
Crystallins
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Fain P R
Department of Medical Information, University of Utah School of Medicine, Salt Lake City 84108.
Goldgar D E
Wallace M R
Collins F S
Wright E
Nguyen K
Barker D F
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1989-11-00
Pages
721-8
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1683433
Subset
IM
Grants
NIGMS NIH HHS · GM-40877 · United States
NINDS NIH HHS · NS-23410 · United States
External Links
PubMed source PMC Full Text View journal details
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