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A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.

Publication ,  Journal Article
Ikeuchi, T; Sanpei, K; Takano, H; Sasaki, H; Tashiro, K; Cancel, G; Brice, A; Bird, TD; Schellenberg, GD; Pericak-Vance, MA; Welsh-Bohmer, KA ...
Published in: Genomics
April 15, 1998

Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to chromosome 17q. The CAG/CTG repeat is highly polymorphic, with a heterozygosity of 85%, and exhibits a bimodal distribution (allele S, 10-26 repeat units, and allele L, 50-92 repeat units). The CAG/CTG repeat of allele L exhibited intergenerational instabilities, which are more prominent in maternal transmission than in paternal transmission. Analyses of Northern blot and RT-PCR indicate that the repeat is transcribed. Although the size of the CAG/CTG repeat of allele L is within the range of the expanded CAG repeat of disease-causing genes, we did not detect any association of allele L with various neurodegenerative diseases, including frontotemporal dementia and parkinsonism, mapped to 17q21-q23.

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Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

April 15, 1998

Volume

49

Issue

2

Start / End Page

321 / 326

Location

United States

Related Subject Headings

  • Trinucleotide Repeats
  • Spinocerebellar Degenerations
  • Polymorphism, Genetic
  • Molecular Sequence Data
  • Humans
  • Genetics & Heredity
  • Genes, Dominant
  • Chromosomes, Human, Pair 17
  • Chromosome Mapping
  • Base Sequence
 

Citation

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Ikeuchi, T., Sanpei, K., Takano, H., Sasaki, H., Tashiro, K., Cancel, G., … Tsuji, S. (1998). A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. Genomics, 49(2), 321–326. https://doi.org/10.1006/geno.1998.5266
Ikeuchi, T., K. Sanpei, H. Takano, H. Sasaki, K. Tashiro, G. Cancel, A. Brice, et al. “A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.Genomics 49, no. 2 (April 15, 1998): 321–26. https://doi.org/10.1006/geno.1998.5266.
Ikeuchi T, Sanpei K, Takano H, Sasaki H, Tashiro K, Cancel G, et al. A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. Genomics. 1998 Apr 15;49(2):321–6.
Ikeuchi, T., et al. “A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.Genomics, vol. 49, no. 2, Apr. 1998, pp. 321–26. Pubmed, doi:10.1006/geno.1998.5266.
Ikeuchi T, Sanpei K, Takano H, Sasaki H, Tashiro K, Cancel G, Brice A, Bird TD, Schellenberg GD, Pericak-Vance MA, Welsh-Bohmer KA, Clark LN, Wilhelmsen K, Tsuji S. A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. Genomics. 1998 Apr 15;49(2):321–326.
Journal cover image

Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

April 15, 1998

Volume

49

Issue

2

Start / End Page

321 / 326

Location

United States

Related Subject Headings

  • Trinucleotide Repeats
  • Spinocerebellar Degenerations
  • Polymorphism, Genetic
  • Molecular Sequence Data
  • Humans
  • Genetics & Heredity
  • Genes, Dominant
  • Chromosomes, Human, Pair 17
  • Chromosome Mapping
  • Base Sequence