메뉴 건너뛰기




Volumn 146, Issue 1, 2008, Pages 60-65

Fragile X full mutation alleles composed of few alleles: Implications for CGG repeat expansion

Author keywords

FMR1; Fragile X; Trinucleotide repeat disorder

Indexed keywords

DNA; ETHIDIUM BROMIDE;

EID: 37549027560     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32087     Document Type: Article
Times cited : (17)

References (29)
  • 4
    • 37549021606 scopus 로고    scopus 로고
    • The unique alteration of electrophoretic mobility of fragile-X-expanded fragments in the presence of ethidium bromide
    • Cummins J. 1997. The unique alteration of electrophoretic mobility of fragile-X-expanded fragments in the presence of ethidium bromide. Elsevier Trends Journals Technical Tips Online T01054 14/5/97.
    • (1997) Elsevier Trends Journals Technical Tips Online T01054 14/5/97
    • Cummins, J.1
  • 5
    • 0026751517 scopus 로고
    • Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
    • Devys D, Biancalana V, Rousseau F, Boue J, Mandel JL, Oberlé I. 1992. Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. Am J Med Genet 43:208-216.
    • (1992) Am J Med Genet , vol.43 , pp. 208-216
    • Devys, D.1    Biancalana, V.2    Rousseau, F.3    Boue, J.4    Mandel, J.L.5    Oberlé, I.6
  • 6
    • 0028362201 scopus 로고
    • n nucleotide repeats form a stable tetrahelical structure
    • n nucleotide repeats form a stable tetrahelical structure. Proc Natl Acad Sci USA 24:4950-4954.
    • (1994) Proc Natl Acad Sci USA , vol.24 , pp. 4950-4954
    • Fry, M.1    Loeb, L.A.2
  • 9
    • 0017672745 scopus 로고
    • Electrophoresis of DNA in agarose gels. Optimizing separations of conformational isomers of double- and single-stranded DNAs
    • Johnson PH, Grossman LI. 1977. Electrophoresis of DNA in agarose gels. Optimizing separations of conformational isomers of double- and single-stranded DNAs. Biochemistry 16:4217-4224.
    • (1977) Biochemistry , vol.16 , pp. 4217-4224
    • Johnson, P.H.1    Grossman, L.I.2
  • 10
    • 0020606517 scopus 로고
    • Chromosomal mosaicism confined to the placenta in human conceptions
    • Kalousek DK, Dill FJ. 1983. Chromosomal mosaicism confined to the placenta in human conceptions. Science 221:665-667.
    • (1983) Science , vol.221 , pp. 665-667
    • Kalousek, D.K.1    Dill, F.J.2
  • 13
    • 18544371505 scopus 로고    scopus 로고
    • Technical standards and guidelines for fragile X: The first of a series of disease-specific supplements to the standards and guidelines for clinical genetics laboratories of the American College of Medical Genetics
    • Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ. 2001. Technical standards and guidelines for fragile X: The first of a series of disease-specific supplements to the standards and guidelines for clinical genetics laboratories of the American College of Medical Genetics. Genet Med 3:200-205.
    • (2001) Genet Med , vol.3 , pp. 200-205
    • Maddalena, A.1    Richards, C.S.2    McGinniss, M.J.3    Brothman, A.4    Desnick, R.J.5    Grier, R.E.6    Hirsch, B.7    Jacky, P.8    McDowell, G.A.9    Popovich, B.10    Watson, M.11    Wolff, D.J.12
  • 16
    • 0030833799 scopus 로고    scopus 로고
    • Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic
    • Moutou C, Vincent MC, Biancalana V, Mandel JL. 1997. Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic. Hum Mol Genet 6:971-979.
    • (1997) Hum Mol Genet , vol.6 , pp. 971-979
    • Moutou, C.1    Vincent, M.C.2    Biancalana, V.3    Mandel, J.L.4
  • 18
    • 37549049100 scopus 로고    scopus 로고
    • Nolin SL, Dobkin C, Brown WT. 2003a. Molecular analysis of fragile X syndrome. In: Dracopoli NC, Haines JL, Korf BR, editors. Current protocols in human genetics. New York: Wiley. p 9.5.1-9.5.12.
    • Nolin SL, Dobkin C, Brown WT. 2003a. Molecular analysis of fragile X syndrome. In: Dracopoli NC, Haines JL, Korf BR, editors. Current protocols in human genetics. New York: Wiley. p 9.5.1-9.5.12.
  • 20
    • 25844438495 scopus 로고    scopus 로고
    • Repeat instability: Mechanisms of dynamic mutations
    • Pearson CE, Edamura KN, Cleary JD. 2005. Repeat instability: Mechanisms of dynamic mutations. Nat Rev/Genet 6:729-742.
    • (2005) Nat Rev/Genet , vol.6 , pp. 729-742
    • Pearson, C.E.1    Edamura, K.N.2    Cleary, J.D.3
  • 22
    • 37549071589 scopus 로고    scopus 로고
    • Sambrook J, Russell DW. 2001. Molecular cloning: A laboratory manual. 3rd edition. Cold Spring, NY: Cold Spring Harbor Press.
    • Sambrook J, Russell DW. 2001. Molecular cloning: A laboratory manual. 3rd edition. Cold Spring, NY: Cold Spring Harbor Press.
  • 23
    • 0033709624 scopus 로고    scopus 로고
    • Monozygotic boys with fragile X syndrome
    • Sheldon L, Turk J. 2000. Monozygotic boys with fragile X syndrome. Dev Med Child Neurol 42:768-774.
    • (2000) Dev Med Child Neurol , vol.42 , pp. 768-774
    • Sheldon, L.1    Turk, J.2
  • 24
    • 0028317404 scopus 로고
    • Biological implications of the mechanism of action of human DNA (cytosine-5)methyltransferase
    • Smith SS. 1994. Biological implications of the mechanism of action of human DNA (cytosine-5)methyltransferase. Prog Nucleic Acid Res Mol Biol 49:65-111.
    • (1994) Prog Nucleic Acid Res Mol Biol , vol.49 , pp. 65-111
    • Smith, S.S.1
  • 26
    • 0034175916 scopus 로고    scopus 로고
    • Interruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structures
    • Weisman-Shomer P, Cohen E, Fry M. 2000. Interruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structures. Nucleic Acids Res 28:1535-1541.
    • (2000) Nucleic Acids Res , vol.28 , pp. 1535-1541
    • Weisman-Shomer, P.1    Cohen, E.2    Fry, M.3
  • 27
    • 0033865347 scopus 로고    scopus 로고
    • Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype
    • Willemsen R, Olmer R, De Diego Otero Y, Oostra BA. 2000. Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype. J Med Genet 37:603-604.
    • (2000) J Med Genet , vol.37 , pp. 603-604
    • Willemsen, R.1    Olmer, R.2    De Diego Otero, Y.3    Oostra, B.A.4
  • 28
    • 0036626521 scopus 로고    scopus 로고
    • Timing of the absence of FMR1 expression in full mutation chorionic villi
    • Willemsen R, Bontekoe CJ, Severijnen L-A, Oostra BA. 2002. Timing of the absence of FMR1 expression in full mutation chorionic villi. Hum Genet 110:601-605.
    • (2002) Hum Genet , vol.110 , pp. 601-605
    • Willemsen, R.1    Bontekoe, C.J.2    Severijnen, L.-A.3    Oostra, B.A.4
  • 29
    • 0027310525 scopus 로고
    • Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion
    • Wöhrle D, Hennig I, Vogel H, Steinbach P. 1993. Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nat Genet 4:140-142.
    • (1993) Nat Genet , vol.4 , pp. 140-142
    • Wöhrle, D.1    Hennig, I.2    Vogel, H.3    Steinbach, P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.