메뉴 건너뛰기




Volumn 66, Issue 3, 2000, Pages 1145-1148

A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; CASE REPORT; FEMALE; GERM LINE; HUMAN; HUNTINGTON CHOREA; MICROSATELLITE INSTABILITY; MOSAICISM; ONSET AGE; OOCYTE; PRIORITY JOURNAL; SIBLING; TRINUCLEOTIDE REPEAT;

EID: 0033912698     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302810     Document Type: Article
Times cited : (19)

References (20)
  • 1
    • 0032065590 scopus 로고    scopus 로고
    • ACMG/ASHG statement: Laboratory guidelines for Huntington disease genetic testing
    • The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group (1998) ACMG/ASHG statement: laboratory guidelines for Huntington disease genetic testing. Am J Hum Genet 62:1243-1247
    • (1998) Am J Hum Genet , vol.62 , pp. 1243-1247
  • 2
    • 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 (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983
    • (1993) Cell , vol.72 , pp. 971-983
  • 3
    • 0042115272 scopus 로고    scopus 로고
    • Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: Evidence from single sperm analyses
    • Chong SS, Almqvist E, Telenius H, LaTray L, Nichol K, Bourdelat-Parks B, Goldberg YP, et al (1997) Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet 6:301-309
    • (1997) Hum Mol Genet , vol.6 , pp. 301-309
    • Chong, S.S.1    Almqvist, E.2    Telenius, H.3    LaTray, L.4    Nichol, K.5    Bourdelat-Parks, B.6    Goldberg, Y.P.7
  • 4
    • 18544410106 scopus 로고    scopus 로고
    • Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
    • Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, Scherzinger E, et al (1997) Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90: 537-548
    • (1997) Cell , vol.90 , pp. 537-548
    • Davies, S.W.1    Turmaine, M.2    Cozens, B.A.3    DiFiglia, M.4    Sharp, A.H.5    Ross, C.A.6    Scherzinger, E.7
  • 5
    • 0026536403 scopus 로고
    • Inverse relationship between age at onset of Huntington disease and paternal age suggests involvement of genetic imprinting
    • Farrer LA, Cupples LA, Kiely DK, Conneally PM, Myers RH (1992) Inverse relationship between age at onset of Huntington disease and paternal age suggests involvement of genetic imprinting. Am J Hum Genet 50:528-535
    • (1992) Am J Hum Genet , vol.50 , pp. 528-535
    • Farrer, L.A.1    Cupples, L.A.2    Kiely, D.K.3    Conneally, P.M.4    Myers, R.H.5
  • 6
    • 0027359989 scopus 로고
    • Molecular analysis of new mutations for Huntington's disease: Intermediate alleles and sex of origin effects
    • Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, Telenius H, et al (1993) Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet 5:174-179
    • (1993) Nat Genet , vol.5 , pp. 174-179
    • Goldberg, Y.P.1    Kremer, B.2    Andrew, S.E.3    Theilmann, J.4    Graham, R.K.5    Squitieri, F.6    Telenius, H.7
  • 7
    • 0028882509 scopus 로고
    • Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
    • Goldberg YP, McMurray CT, Zeisler J, Almqvist E, Sillence D, Richards F, Gacy AM, et al (1995) Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 4:1911-1918
    • (1995) Hum Mol Genet , vol.4 , pp. 1911-1918
    • Goldberg, Y.P.1    McMurray, C.T.2    Zeisler, J.3    Almqvist, E.4    Sillence, D.5    Richards, F.6    Gacy, A.M.7
  • 9
    • 0029084074 scopus 로고
    • Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum
    • Leeflang EP, Zhang L, Tavare S, Hubert R, Srinidhi J, MacDonald ME, Myers RH, et al (1995) Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum Mol Genet 4:1519-1526
    • (1995) Hum Mol Genet , vol.4 , pp. 1519-1526
    • Leeflang, E.P.1    Zhang, L.2    Tavare, S.3    Hubert, R.4    Srinidhi, J.5    MacDonald, M.E.6    Myers, R.H.7
  • 12
    • 0033556344 scopus 로고    scopus 로고
    • Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease
    • Nance MA, Mathias-Hagen V, Breningstall G, Wick MJ, McGlennen RC (1999) Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease. Neurology 52:392-394
    • (1999) Neurology , vol.52 , pp. 392-394
    • Nance, M.A.1    Mathias-Hagen, V.2    Breningstall, G.3    Wick, M.J.4    McGlennen, R.C.5
  • 14
    • 0032907359 scopus 로고    scopus 로고
    • Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients
    • Sato T, Oyake M, Nakamura K, Nakao K, Fukusima Y, Onodera O, Igarashi S, et al (1999) Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients. Hum Mol Genet 8:99-106
    • (1999) Hum Mol Genet , vol.8 , pp. 99-106
    • Sato, T.1    Oyake, M.2    Nakamura, K.3    Nakao, K.4    Fukusima, Y.5    Onodera, O.6    Igarashi, S.7
  • 15
    • 0032475931 scopus 로고    scopus 로고
    • Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
    • Saudou F, Finkbeiner S, Devys D, Greenberg ME (1998) Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 95:55-66
    • (1998) Cell , vol.95 , pp. 55-66
    • Saudou, F.1    Finkbeiner, S.2    Devys, D.3    Greenberg, M.E.4
  • 16
    • 0032949459 scopus 로고    scopus 로고
    • A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice
    • Shelbourne PF, Killeen N, Hevner RF, Johnston HM, Tecott L, Lewandoski M, Ennis M, (1999) A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum Mol Genet 1999 8:763-774
    • (1999) Hum Mol Genet 1999 , vol.8 , pp. 763-774
    • Shelbourne, P.F.1    Killeen, N.2    Hevner, R.F.3    Johnston, H.M.4    Tecott, L.5    Lewandoski, M.6    Ennis, M.7
  • 18
  • 19
    • 0027275819 scopus 로고
    • A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes
    • Warner JP, Barron LH, Brock DJ (1993) A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 7:235-239
    • (1993) Mol Cell Probes , vol.7 , pp. 235-239
    • Warner, J.P.1    Barron, L.H.2    Brock, D.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.