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.
| Original language | English |
|---|---|
| Pages (from-to) | 321-326 |
| Number of pages | 6 |
| Journal | Genomics |
| Volume | 49 |
| Issue number | 2 |
| DOIs | |
| State | Published - Apr 15 1998 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics
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A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. / Ikeuchi, Takeshi; Sanpei, Kazuhiro; Takano, Hiroki; Sasaki, Hidenao; Tashiro, Kunio; Cancel, Géraldine; Brice, Alexis; Bird, Thomas D.; Schellenberg, Gerry D.; Pericak-Vance, Margaret A; Welsh-Bohmer, Kathleen A.; Clark, Lorraine N.; Wilhelmsen, Kirk; Tsuji, Shoji.
In: Genomics, Vol. 49, No. 2, 15.04.1998, p. 321-326.Research output: Contribution to journal › Article
}
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
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
VL - 49
SP - 321
EP - 326
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 2
ER -