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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • 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

Published Date

  • April 15, 1998

Published In

Volume / Issue

  • 49 / 2

Start / End Page

  • 321 - 326

PubMed ID

  • 9598323

International Standard Serial Number (ISSN)

  • 0888-7543

Digital Object Identifier (DOI)

  • 10.1006/geno.1998.5266


  • eng

Conference Location

  • United States