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A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34.

Publication ,  Journal Article
McDonald, MT; Papenberg, KA; Ghosh, S; Glatfelter, AA; Biesecker, BB; Helmbold, EA; Markel, DS; Zolotor, A; McKinnon, WC; Vanderstoep, JL
Published in: Nat Genet
February 1994

Hereditary haemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu disease, is an autosomal dominant vascular dysplasia of unknown pathogenesis leading to 'widespread' dermal, mucosal and visceral telangiectases and recurrent haemorrhage. We have mapped the HHT gene, by linkage analysis, to markers on 9q33-34 in two large multi-generation families. Haplotype analysis and mapping of recombination breakpoints gives a 4 cM interval between D9S61 and D9S63 as the most likely location of the gene. The closest marker, D9S65, is estimated to be within 1 cM of the gene and shows a combined lod score of 11.41. Two potential candidate genes, COL5A1 and ZNF79, are also located within 9q33-34. These results provide a starting point for the eventual cloning of the HHT gene.

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Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

February 1994

Volume

6

Issue

2

Start / End Page

197 / 204

Location

United States

Related Subject Headings

  • Telangiectasia, Hereditary Hemorrhagic
  • Repetitive Sequences, Nucleic Acid
  • Polymorphism, Genetic
  • Pedigree
  • Oligodeoxyribonucleotides
  • Male
  • Humans
  • Haplotypes
  • Genetic Markers
  • Genetic Linkage
 

Citation

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McDonald, M. T., Papenberg, K. A., Ghosh, S., Glatfelter, A. A., Biesecker, B. B., Helmbold, E. A., … Vanderstoep, J. L. (1994). A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet, 6(2), 197–204. https://doi.org/10.1038/ng0294-197
McDonald, M. T., K. A. Papenberg, S. Ghosh, A. A. Glatfelter, B. B. Biesecker, E. A. Helmbold, D. S. Markel, A. Zolotor, W. C. McKinnon, and J. L. Vanderstoep. “A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34.Nat Genet 6, no. 2 (February 1994): 197–204. https://doi.org/10.1038/ng0294-197.
McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, et al. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet. 1994 Feb;6(2):197–204.
McDonald, M. T., et al. “A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34.Nat Genet, vol. 6, no. 2, Feb. 1994, pp. 197–204. Pubmed, doi:10.1038/ng0294-197.
McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, Markel DS, Zolotor A, McKinnon WC, Vanderstoep JL. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet. 1994 Feb;6(2):197–204.

Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

February 1994

Volume

6

Issue

2

Start / End Page

197 / 204

Location

United States

Related Subject Headings

  • Telangiectasia, Hereditary Hemorrhagic
  • Repetitive Sequences, Nucleic Acid
  • Polymorphism, Genetic
  • Pedigree
  • Oligodeoxyribonucleotides
  • Male
  • Humans
  • Haplotypes
  • Genetic Markers
  • Genetic Linkage