A Refined Genetic Map of the Region of Chromosome 17 Surrounding the Von Recklinghausen Neurofibromatosis (NF1) Gene

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1989 Jan 1

PMID 2491779

Citations 5

Authors

S R Diehl

M Boehnke

R P Erickson

L M Ploughman

K A Seiler

J L Lieberman

H B CLARKE

M A BRUCE

E K Schorry

M Pericak-Vance

Affiliations

Soon will be listed here.

Abstract

The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analyses of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian NF1 families (163 individuals, 98 NF1 affected) in Michigan and Ohio and also studied a large family ascertained primarily in North Carolina. The following markers were used in this study: HHH202, TH17.19, D17Z1, ERBA1, EW203, EW206, EW207, EW301, CRI-L581, and CRI-L946. NF1 did not recombine with either TH17.19 or HHH202 in any of the informative meioses surveyed (maximum lod scores of 17.04 and 7.21, respectively, at a recombination fraction of .00), indicating that these markers map very close to the NF1 gene. We also report evidence of three instances of recombination between NF1 and the centromeric marker D17Z1 (maximum lod score of 13.43 at a recombination fraction of .04), as well as two crossovers between pairs of marker loci. We find no evidence of locus heterogeneity, and our results support the localization of the NF1 gene to proximal chromosome 17q.

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Multipoint linkage analysis in neurofibromatosis type I: an international collaboration.

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The von Recklinghausen neurofibromatosis region on chromosome 17--genetic and physical maps come into focus.

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