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Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs).

Publication ,  Journal Article
Yang, X'R'; Beerman, M; Bergen, AW; Parry, DM; Sheridan, E; Liebsch, NJ; Kelley, MJ; Chanock, S; Goldstein, AM
Published in: Int J Cancer
September 1, 2005

Chordoma, a rare bone tumor originating from notochordal remnants, has a genetic predisposition in some families. Previously, we performed linkage analysis using microsatellite (STR) markers on 3 unrelated chordoma kindreds (16 patients with chordoma) and reported significant evidence for linkage to chromosome 7q33 (Z(max) = 4.78) with a minimal disease gene region of 11 cM. In our present study, we performed linkage analysis in these 3 families using chromosome 7 single nucleotide polymorphisms (SNPs). Parametric and nonparametric multipoint analyses showed significant linkage to 7q markers with p < 0.001 and Z(max) = 2.77, respectively. The minimal disease gene region was not reduced by combined SNP and STR haplotype analysis compared to the previous STR haplotype analysis alone. We genotyped members of a fourth chordoma family with SNP and STR markers for chromosome 7q and for 1p36, the location of a previously reported chordoma locus. Affected members of this family did not share a common haplotype on 7q, and the family did not show evidence of linkage to 1p36. Thus, we corroborated a chordoma locus on chromosome 7q in the 3 original families and demonstrated evidence for genetic heterogeneity in the fourth family. Our study also provided insights into some limitations and analytical complexities associated with using a dense SNP marker set in linkage analysis of complex pedigrees.

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Published In

Int J Cancer

DOI

ISSN

0020-7136

Publication Date

September 1, 2005

Volume

116

Issue

3

Start / End Page

487 / 491

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Pedigree
  • Oncology & Carcinogenesis
  • Middle Aged
  • Male
  • Humans
  • Genotype
  • Genetic Predisposition to Disease
  • Genetic Markers
  • Genetic Linkage
 

Citation

APA
Chicago
ICMJE
MLA
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Yang, X. ’. R. ’., Beerman, M., Bergen, A. W., Parry, D. M., Sheridan, E., Liebsch, N. J., … Goldstein, A. M. (2005). Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs). Int J Cancer, 116(3), 487–491. https://doi.org/10.1002/ijc.21006
Yang, Xiaohong ’ Rose ’, Michael Beerman, Andrew W. Bergen, Dilys M. Parry, Eamonn Sheridan, Norbert J. Liebsch, Michael J. Kelley, Stephen Chanock, and Alisa M. Goldstein. “Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs).Int J Cancer 116, no. 3 (September 1, 2005): 487–91. https://doi.org/10.1002/ijc.21006.
Yang X’ R’, Beerman M, Bergen AW, Parry DM, Sheridan E, Liebsch NJ, et al. Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs). Int J Cancer. 2005 Sep 1;116(3):487–91.
Yang, Xiaohong ’. Rose ’., et al. “Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs).Int J Cancer, vol. 116, no. 3, Sept. 2005, pp. 487–91. Pubmed, doi:10.1002/ijc.21006.
Yang X’ R’, Beerman M, Bergen AW, Parry DM, Sheridan E, Liebsch NJ, Kelley MJ, Chanock S, Goldstein AM. Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs). Int J Cancer. 2005 Sep 1;116(3):487–491.
Journal cover image

Published In

Int J Cancer

DOI

ISSN

0020-7136

Publication Date

September 1, 2005

Volume

116

Issue

3

Start / End Page

487 / 491

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Pedigree
  • Oncology & Carcinogenesis
  • Middle Aged
  • Male
  • Humans
  • Genotype
  • Genetic Predisposition to Disease
  • Genetic Markers
  • Genetic Linkage