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Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

Sanpei, K ; Takano, H ; Igarashi, S ; Sato, T ; Oyake, M ; Sasaki, H ; Wakisaka, A ; Tashiro, K ; Ishida, Y ; Ikeuchi, T ; Koide, R ; Saito, M ; Sato, A ; Tanaka, T ; Hanyu, S ; Takiyama, Y ; Nishizawa, M ; Shimizu, N ; Nomura, Y ; Segawa, M ; Iwabuchi, K ; Eguchi, I ; Tanaka, H ; Takahashi, H ; Tsuji, S

Nature genetics, 1996-11, Vol.14 (3), p.277-284 [Periódico revisado por pares]

London: Nature Publishing Group

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Título:
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
Autor: Sanpei, K ; Takano, H ; Igarashi, S ; Sato, T ; Oyake, M ; Sasaki, H ; Wakisaka, A ; Tashiro, K ; Ishida, Y ; Ikeuchi, T ; Koide, R ; Saito, M ; Sato, A ; Tanaka, T ; Hanyu, S ; Takiyama, Y ; Nishizawa, M ; Shimizu, N ; Nomura, Y ; Segawa, M ; Iwabuchi, K ; Eguchi, I ; Tanaka, H ; Takahashi, H ; Tsuji, S
Assuntos: Amino Acid Sequence ; Ataxins ; Base Sequence ; Biological and medical sciences ; Cloning, Molecular - methods ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA Probes ; Female ; Humans ; In Situ Hybridization - methods ; Male ; Medical sciences ; Molecular Sequence Data ; Nerve Tissue Proteins ; Neurology ; Pedigree ; Proteins - genetics ; Sequence Analysis, DNA ; Spinocerebellar Degenerations - classification ; Spinocerebellar Degenerations - genetics ; Trinucleotide Repeats
É parte de: Nature genetics, 1996-11, Vol.14 (3), p.277-284
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Descrição: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant, neurodegenerative disorder that affects the cerebellum and other areas of the central nervous system. We have devised a novel strategy, the direct identification of repeat expansion and cloning technique (DIRECT), which allows selective detection of expanded CAG repeats and cloning of the genes involved. By applying DIRECT, we identified an expanded CAG repeat of the gene for SCA2. CAG repeats of normal alleles range in size from 15 to 24 repeat units, while those of SCA2 chromosomes are expanded to 35 to 59 repeat units. The SCA2 cDNA is predicted to code for 1,313 amino acids-with the CAG repeats coding for a polyglutamine tract. DIRECT is a robust strategy for identification of pathologically expanded trinucleotide repeats and will dramatically accelerate the search for causative genes of neuropsychiatric diseases caused by trinucleotide repeat expansions.
Editor: London: Nature Publishing Group
Idioma: Inglês

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Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

London: Nature Publishing Group

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