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Volumn 36, Issue 2, 1999, Pages 112-114

Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect

Author keywords

CCG repeat polymorphism; Founder effect; Spinocerebellar ataxia type 2

Indexed keywords

DNA;

EID: 0033064225     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (16)

References (20)
  • 1
    • 0028859878 scopus 로고
    • Autosomal dominant cerebellar phenotypes: The genotype has settled the issue
    • Rosenberg RN. Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology 1995;45:1-5.
    • (1995) Neurology , vol.45 , pp. 1-5
    • Rosenberg, R.N.1
  • 2
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar a taxi a type 2
    • Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar a taxi a type 2. Nat Genet 1996;14:269-76.
    • (1996) Nat Genet , vol.14 , pp. 269-276
    • Pulst, S.M.1    Nechiporuk, A.2    Nechiporuk, T.3
  • 3
    • 0030294345 scopus 로고    scopus 로고
    • Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
    • Imbert G, Saudou F, Yvert G, et al Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996;14: 285-91.
    • (1996) Nat Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3
  • 4
    • 0030292368 scopus 로고    scopus 로고
    • 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, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique (DIRECT). Nat Genet 1996;14:277-84.
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3
  • 5
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr HT, Chung M, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-6.
    • (1993) Nat Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.2    Banfi, S.3
  • 6
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-8.
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 8
    • 16944364511 scopus 로고    scopus 로고
    • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
    • David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70.
    • (1997) Nat Genet , vol.17 , pp. 65-70
    • David, G.1    Abbas, N.2    Stevanin, G.3
  • 9
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, et al Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994;6:9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 10
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy: Expansion of an unstable CAG trinucleotide on chromosome 12p
    • Nagafuchi S, Yanagisawa H, Sato K, et al Dentatorubral and pallidoluysian atrophy: expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994;6:14-18. .
    • (1994) Nat Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3
  • 11
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-83.
    • (1993) Cell , vol.72 , pp. 971-983
  • 12
  • 14
    • 0029969662 scopus 로고    scopus 로고
    • Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease
    • Watanabe M, Abe K, Aoki M, et al. Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease. J Neural Sci 1996;136:101-7.
    • (1996) J Neural Sci , vol.136 , pp. 101-107
    • Watanabe, M.1    Abe, K.2    Aoki, M.3
  • 15
    • 10344243027 scopus 로고    scopus 로고
    • Mitotic and meiotic stability of the CAG repeat in the X-linked spinal and bulbar muscular atrophy gene
    • Watanabe M, Abe K, Aoki M, et al. Mitotic and meiotic stability of the CAG repeat in the X-linked spinal and bulbar muscular atrophy gene. Clin Genet 1996;50:133-7.
    • (1996) Clin Genet , vol.50 , pp. 133-137
    • Watanabe, M.1    Abe, K.2    Aoki, M.3
  • 16
    • 0029045392 scopus 로고
    • The spinocerebellar ataxia 2 locus is located within a 3-cM interval on chromosome 12q23-24.1
    • Allotey R, Twells R, Cemal C, et al The spinocerebellar ataxia 2 locus is located within a 3-cM interval on chromosome 12q23-24.1. Am J Hum Genet 1995;57:185-9.
    • (1995) Am J Hum Genet , vol.57 , pp. 185-189
    • Allotey, R.1    Twells, R.2    Cemal, C.3
  • 17
    • 0030944114 scopus 로고    scopus 로고
    • The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
    • Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997;60:842-50.
    • (1997) Am J Hum Genet , vol.60 , pp. 842-850
    • Geschwind, D.H.1    Perlman, S.2    Figueroa, C.P.3    Treiman, L.J.4    Pulst, S.M.5
  • 18
    • 23444458688 scopus 로고
    • Triplet repeat genes raise questions
    • Maddox J. Triplet repeat genes raise questions. Nature 1994;368:685.
    • (1994) Nature , vol.368 , pp. 685
    • Maddox, J.1
  • 19
    • 0028177342 scopus 로고
    • A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: Implications for diagnostic accuracy and predictive testing
    • Andrew SE, Goldberg YP, Theilmann J, Zeisler J, Hayden MR. A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet 1994;3:65-7.
    • (1994) Hum Mol Genet , vol.3 , pp. 65-67
    • Andrew, S.E.1    Goldberg, Y.P.2    Theilmann, J.3    Zeisler, J.4    Hayden, M.R.5
  • 20
    • 0027955775 scopus 로고
    • A single allele from the polymorphic CCG rich sequence immediately 3' to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in the Scottish population
    • Barron LH, Rae A, Holloway S, Brock DJH, Warner JP. A single allele from the polymorphic CCG rich sequence immediately 3' to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in the Scottish population. Hum Mol Genet 1994;3:173-5.
    • (1994) Hum Mol Genet , vol.3 , pp. 173-175
    • Barron, L.H.1    Rae, A.2    Holloway, S.3    Brock, D.J.H.4    Warner, J.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.