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
Language
- eng
Conference Location
- United States