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Volumn 6, Issue 2, 1997, Pages 173-184

The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MICROSATELLITE DNA;

EID: 8044254656     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.2.173     Document Type: Article
Times cited : (66)

References (45)
  • 7
    • 0030137717 scopus 로고    scopus 로고
    • Identification of the gene FMR2,associaled with FRAXE mental retardation
    • Gecz,J., Gedeon,A.K., Sutherland,G.R. and Mulley,J.C. (1996) Identification of the gene FMR2,associaled with FRAXE mental retardation. Nature Genet., 13, 105-109.
    • (1996) Nature Genet. , vol.13 , pp. 105-109
    • Gecz, J.1    Gedeon, A.K.2    Sutherland, G.R.A.3    Mulley, J.C.4
  • 8
    • 0030138905 scopus 로고    scopus 로고
    • Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
    • Gu,Y., Shen,Y., Gibbs,R.A. and Nelson,D.L. (1996) Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nature Genet., 13, 109-113.
    • (1996) Nature Genet. , vol.13 , pp. 109-113
    • Gu, Y.1    Shen, Y.2    Gibbs, R.A.A.3    Nelson, D.L.4
  • 15
    • 0027500851 scopus 로고
    • Data on the CGG repeat at the Fragile X-site in the non- Retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate
    • Arinami,T., Asano,M., Kobayashi,K., Yanagi,H., and Hamaguchi, H. (1993) Data on the CGG repeat at the Fragile X-site in the non- retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate. Hum. Genet., 92, 431-436.
    • (1993) Hum. Genet. , vol.92 , pp. 431-436
    • Arinami, T.1    Asano, M.2    Kobayashi, K.3    Yanagi, H.4    Hamaguchi, H.5
  • 19
    • 0026462708 scopus 로고
    • Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation
    • Heitz,D., Devys,D., Imbert,G., Kretz,C. and Mandel,J-L. (1992) Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. J. Med. Genet., 29, 794-801.
    • (1992) J. Med. Genet. , vol.29 , pp. 794-801
    • Heitz, D.1    Devys, D.2    Imbert, G.3    Kretz, C.4    Mandel, J.-L.5
  • 24
    • 0029916569 scopus 로고    scopus 로고
    • Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome
    • Eichler,E.E., Macpherson,J.N., Murray,A., Jacobs,P.A., Chakravarti,A. and Nelson,D.L. (1996) Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum. Mol. Genet., 5, 319-331.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 319-331
    • Eichler, E.E.1    Macpherson, J.N.2    Murray, A.3    Jacobs, P.A.4    Chakravarti, A.5    Nelson, D.L.6
  • 25
    • 0030008960 scopus 로고    scopus 로고
    • Fragile X 'Gray Zone' alleles: AGG patterns, expansion risks, and associated haplotypes
    • Zhong,N., Ju,W., Pietrofesa,J., Wang,D., Dobkin,C. and Brown,W.T. (1996) Fragile X 'Gray Zone' alleles: AGG patterns, expansion risks, and associated haplotypes. Am. J. Med. Genet., 64, 261-265.
    • (1996) Am. J. Med. Genet. , vol.64 , pp. 261-265
    • Zhong, N.1    Ju, W.2    Pietrofesa, J.3    Wang, D.4    Dobkin, C.5    Brown, W.T.6
  • 26
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the Fragile X repeat could result in predisposing normal alleles
    • Kunst,C.B. and Warren,S.T. (1994) Cryptic and polar variation of the Fragile X repeat could result in predisposing normal alleles. Cell, 77, 853-861.
    • (1994) Cell , vol.77 , pp. 853-861
    • Kunst, C.B.A.1    Warren, S.T.2
  • 27
    • 0028074287 scopus 로고
    • Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation
    • Snow,K., Tester,D.J., Kruckeberg,K.E., Schaid,D.J. and Thibodeau,S.N. (1994) Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation. Hum. Mol. Genet., 3, 1543-1551.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1543-1551
    • Snow, K.1    Tester, D.J.2    Kruckeberg, K.E.3    Schaid, D.J.A.4    Thibodeau, S.N.5
  • 28
    • 0028219673 scopus 로고
    • Insert size and flanking haplotype in Fragile X and normal populations - Possible multiple origins for the Fragile X mutation
    • Macpherson,J.N., Bullman,H., Youings,S.A. and Jacobs,P.A. (1994) Insert size and flanking haplotype in Fragile X and normal populations - possible multiple origins for the Fragile X mutation. Hum. Mol. Genet., 3, 399-405.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 399-405
    • Macpherson, J.N.1    Bullman, H.2    Youings, S.A.3    Jacobs, P.A.4
  • 32
    • 0029980776 scopus 로고    scopus 로고
    • Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations
    • Eichler,E.E. and Nelson,D.L. (1996) Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations. Am. J. Med. Genet., 64, 220-225.
    • (1996) Am. J. Med. Genet. , vol.64 , pp. 220-225
    • Eichler, E.E.1    Nelson, D.L.2
  • 34
    • 0029017085 scopus 로고
    • Fragile X gene instability: Anchoring AGGs and linked microsatellites
    • Zhong,N., Yang,W., Dobkin,C. and Brown,W.T. (1995) Fragile X gene instability: anchoring AGGs and linked microsatellites. Am. J Hum. Genet., 57, 351-361.
    • (1995) Am. J Hum. Genet. , vol.57 , pp. 351-361
    • Zhong, N.1    Yang, W.2    Dobkin, C.3    Brown, W.T.4
  • 35
    • 0028133504 scopus 로고
    • Precursor arrays for triplet repeat expansion at the fragile X locus
    • Hirst,M., Grewal,P. and Davies,K.E. (1995) Precursor arrays for triplet repeat expansion at the fragile X locus. Hum. mol. Genet., 3, 1553-1560.
    • (1995) Hum. Mol. Genet. , vol.3 , pp. 1553-1560
    • Hirst, M.1    Grewal, P.2    Davies, K.E.3
  • 37
    • 0028283364 scopus 로고
    • Fragile X founder chromosome effects: Linkage disequilibrium or microsatellite heterogeneity?
    • Zhong,N., Ye,L.L., Dobkin,C. and Brown,W.T. (1994) Fragile X founder chromosome effects: Linkage disequilibrium or microsatellite heterogeneity? Am. J. Med.,Genet., 51, 405-411.
    • (1994) Am. J. Med.,Genet. , vol.51 , pp. 405-411
    • Zhong, N.1    Ye, L.L.2    Dobkin, C.3    Brown, W.T.4
  • 39
    • 0026949420 scopus 로고
    • Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
    • Hästbacka,J., Delachapelle,A., Kaitila,I., Sistonen,P., Weaver,A. and Lander,E. (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet., 2, 204-211.
    • (1992) Nature Genet. , vol.2 , pp. 204-211
    • Hästbacka, J.1    Delachapelle, A.2    Kaitila, I.3    Sistonen, P.4    Weaver, A.5    Lander, E.6
  • 40
    • 0026446099 scopus 로고
    • A second generation linkage map of the human genome
    • Weissenbach,J. (1992) A second generation linkage map of the human genome. Nature, 359, 794-801.
    • (1992) Nature , vol.359 , pp. 794-801
    • Weissenbach, J.1
  • 41
    • 0027376362 scopus 로고
    • A complex mutable polymorphism located within the fragile X gene
    • Zhong,N., Dobkin,C. and Brown,W.T. (1993) A complex mutable polymorphism located within the fragile X gene. Nature Genet., 5, 248-253.
    • (1993) Nature Genet. , vol.5 , pp. 248-253
    • Zhong, N.1    Dobkin, C.2    Brown, W.T.3
  • 42
    • 0028450806 scopus 로고
    • FRAXAC2 instability
    • et al. Letters to Editor
    • Richards,R.I. et al. and Mornet,E. et al. (1994) FRAXAC2 instability. Letters to Editor. Nature Genet., 7, 122-123.
    • (1994) Nature Genet. , vol.7 , pp. 122-123
    • Richards, R.I.1    Mornet, E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.