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  • Title: A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.
    Author: 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.
    Journal: Genomics; 1998 Apr 15; 49(2):321-6. PubMed ID: 9598323.
    Abstract:
    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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