TY - JOUR
T1 - A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q
AU - Ikeuchi, Takeshi
AU - Sanpei, Kazuhiro
AU - Takano, Hiroki
AU - Sasaki, Hidenao
AU - Tashiro, Kunio
AU - Cancel, Géraldine
AU - Brice, Alexis
AU - Bird, Thomas D.
AU - Schellenberg, Gerry D.
AU - Pericak-Vance, Margaret A.
AU - Welsh-Bohmer, Kathleen A.
AU - Clark, Lorraine N.
AU - Wilhelmsen, Kirk
AU - Tsuji, Shoji
N1 - Funding Information:
This study was supported in part by a grant from the Research for the Future Program of the Japan Society for the Promotion of Science (JSPS-RFTF96L00103); a Grant-in-Aid for Scienti®c Research on Priority Areas (Human Genome Program) from the Ministry of Education, Science, and Culture, Japan; a grant for Surveys and Research on Speci®c Diseases, the Ministry of Health and Welfare, Japan; special coordination funds of the Japanese Science and Technology Agency; a grant from the Uehara Memorial Foundation; a grant from the Kato Memorial Trust for Nambyo Research; a grant from Tsubaki Memorial Neuroscience Research Foundation; and Grants NS31153 and NS26630.
PY - 1998/4/15
Y1 - 1998/4/15
N2 - 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.
AB - 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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U2 - 10.1006/geno.1998.5266
DO - 10.1006/geno.1998.5266
M3 - Article
C2 - 9598323
AN - SCOPUS:17644447664
VL - 49
SP - 321
EP - 326
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 2
ER -