메뉴 건너뛰기




Volumn 16, Issue 3, 2012, Pages 187-192

Evaluation of the human fragile X mental retardation 1 polymerase chain reaction reagents to amplify the FMR1 gene: Testing in a clinical diagnostic laboratory

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; FRAGILE X MENTAL RETARDATION PROTEIN; GUANINE; REAGENT;

EID: 84858838876     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2011.0128     Document Type: Article
Times cited : (13)

References (26)
  • 1
    • 33645314905 scopus 로고    scopus 로고
    • Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
    • Bodega B, Bione S, Dalpra L, et al. (2006) Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod 21:952-957.
    • (2006) Hum Reprod , vol.21 , pp. 952-957
    • Bodega, B.1    Bione, S.2    Dalpra, L.3
  • 2
    • 23944493381 scopus 로고    scopus 로고
    • FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
    • Bretherick KL, Fluker MR, Robinson WP (2005) FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 117:376-382.
    • (2005) Hum Genet , vol.117 , pp. 376-382
    • Bretherick, K.L.1    Fluker, M.R.2    Robinson, W.P.3
  • 3
    • 77956816409 scopus 로고    scopus 로고
    • An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for Southern blot analysis
    • Chen L, Hadd A, Sah S, et al. (2010) An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for Southern blot analysis. J Mol Diagn 12:589-600.
    • (2010) J Mol Diagn , vol.12 , pp. 589-600
    • Chen, L.1    Hadd, A.2    Sah, S.3
  • 4
    • 79959234736 scopus 로고    scopus 로고
    • High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses
    • Chen L, Hadd A, Sah S, et al. (2011) High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses. Genet Med 13:528-538.
    • (2011) Genet Med , vol.13 , pp. 528-538
    • Chen, L.1    Hadd, A.2    Sah, S.3
  • 5
    • 70350519151 scopus 로고    scopus 로고
    • Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
    • Coffee B, Keith K, Albizua I, et al. (2009) Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet 85:503-514.
    • (2009) Am J Hum Genet , vol.85 , pp. 503-514
    • Coffee, B.1    Keith, K.2    Albizua, I.3
  • 6
    • 77949711819 scopus 로고    scopus 로고
    • Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype
    • Collins SC, Coffee B, Benke PJ, et al. (2010) Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One 5:e9476.
    • (2010) PLoS One , vol.5
    • Collins, S.C.1    Coffee, B.2    Benke, P.J.3
  • 7
    • 0027176361 scopus 로고
    • The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
    • Devys D, Lutz Y, Rouyer N, et al. (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 4:335-340.
    • (1993) Nat Genet , vol.4 , pp. 335-340
    • Devys, D.1    Lutz, Y.2    Rouyer, N.3
  • 8
    • 0028168645 scopus 로고
    • Length of uninterrupted CGG repeats determines instability in the FMR1 gene
    • Eichler EE, Holden JJ, Popovich BW, et al. (1994) Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 8:88-94.
    • (1994) Nat Genet , vol.8 , pp. 88-94
    • Eichler, E.E.1    Holden, J.J.2    Popovich, B.W.3
  • 9
    • 0031046778 scopus 로고    scopus 로고
    • Fragile X mental retardation protein: Nucleocytoplasmic shuttling and association with somatodendritic ribosomes
    • Feng Y, Gutekunst CA, Eberhart DE, et al. (1997) Fragile X mental retardation protein: Nucleocytoplasmic shuttling and association with somatodendritic ribosomes. J Neurosci 17: 1539-1547.
    • (1997) J Neurosci , vol.17 , pp. 1539-1547
    • Feng, Y.1    Gutekunst, C.A.2    Eberhart, D.E.3
  • 10
    • 69249093477 scopus 로고    scopus 로고
    • Expansion of an FMR1 grey-zone allele to a full mutation in two generations
    • Fernandez-Carvajal I, Lopez Posadas B, Pan R, et al. (2009) Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn 11:306-310.
    • (2009) J Mol Diagn , vol.11 , pp. 306-310
    • Fernandez-Carvajal, I.1    Lopez Posadas, B.2    Pan, R.3
  • 11
    • 77649221039 scopus 로고    scopus 로고
    • A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome
    • Filipovic-Sadic S, Sah S, Chen L, et al. (2010) A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem 56:399-408.
    • (2010) Clin Chem , vol.56 , pp. 399-408
    • Filipovic-Sadic, S.1    Sah, S.2    Chen, L.3
  • 12
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
    • Fu YH, Kuhl DP, Pizzuti A, et al. (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 67:1047-1058.
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.2    Pizzuti, A.3
  • 13
    • 78751627969 scopus 로고    scopus 로고
    • Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening
    • Hantash FM, Goos DG, Tsao D, et al. (2010) Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening. Genet Med 12:162-173.
    • (2010) Genet Med , vol.12 , pp. 162-173
    • Hantash, F.M.1    Goos, D.G.2    Tsao, D.3
  • 14
    • 57449090215 scopus 로고    scopus 로고
    • Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines
    • Kronquist KE, Sherman SL, Spector EB (2008) Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines. Genet Med 10:845-847.
    • (2008) Genet Med , vol.10 , pp. 845-847
    • Kronquist, K.E.1    Sherman, S.L.2    Spector, E.B.3
  • 15
    • 73349116887 scopus 로고    scopus 로고
    • Translation of the FMR1 mRNA is not influenced by AGG interruptions
    • Ludwig AL, Raske C, Tassone F, et al. (2009) Translation of the FMR1 mRNA is not influenced by AGG interruptions. Nucleic Acids Res 37:6896-6904.
    • (2009) Nucleic Acids Res , vol.37 , pp. 6896-6904
    • Ludwig, A.L.1    Raske, C.2    Tassone, F.3
  • 16
    • 77954378964 scopus 로고    scopus 로고
    • A Simple, high-throughput assay for fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis
    • Lyon E, Laver T, Yu P, et al. (2010) A Simple, high-throughput assay for fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis. J Mol Diagn 12:505-511.
    • (2010) J Mol Diagn , vol.12 , pp. 505-511
    • Lyon, E.1    Laver, T.2    Yu, P.3
  • 17
    • 0037320928 scopus 로고    scopus 로고
    • Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
    • Nolin SL, Brown WT, Glicksman A, et al. (2003) Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 72:454-464.
    • (2003) Am J Hum Genet , vol.72 , pp. 454-464
    • Nolin, S.L.1    Brown, W.T.2    Glicksman, A.3
  • 18
    • 55949085788 scopus 로고    scopus 로고
    • Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles
    • Nygren AO, Lens SI, Carvalho R (2008) Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles. J Mol Diagn 10:496-501.
    • (2008) J Mol Diagn , vol.10 , pp. 496-501
    • Nygren, A.O.1    Lens, S.I.2    Carvalho, R.3
  • 20
    • 27644507366 scopus 로고    scopus 로고
    • Fragile X syndrome: Diagnostic and carrier testing
    • Sherman S, Pletcher BA, Driscoll DA (2005) Fragile X syndrome: Diagnostic and carrier testing. Genet Med 7:584-587.
    • (2005) Genet Med , vol.7 , pp. 584-587
    • Sherman, S.1    Pletcher, B.A.2    Driscoll, D.A.3
  • 21
    • 0027525069 scopus 로고
    • Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
    • Snow K, Doud LK, Hagerman R, et al. (1993) Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 53:1217-1228.
    • (1993) Am J Hum Genet , vol.53 , pp. 1217-1228
    • Snow, K.1    Doud, L.K.2    Hagerman, R.3
  • 22
    • 33846199099 scopus 로고    scopus 로고
    • Molecular testing for fragile X syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory
    • Strom CM, Crossley B, Redman JB, et al. (2007a) Molecular testing for fragile X syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory. Genet Med 9:46-51.
    • (2007) Genet Med , vol.9 , pp. 46-51
    • Strom, C.M.1    Crossley, B.2    Redman, J.B.3
  • 23
    • 34247199549 scopus 로고    scopus 로고
    • Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome
    • Strom CM, Huang D, Li Y, et al. (2007b) Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome. Genet Med 9:199-207.
    • (2007) Genet Med , vol.9 , pp. 199-207
    • Strom, C.M.1    Huang, D.2    Li, Y.3
  • 24
    • 33947722883 scopus 로고    scopus 로고
    • Elevated FMR1 mRNA in premutation carriers is due to increased transcription
    • Tassone F, Beilina A, Carosi C, Albertosi S, et al. (2007) Elevated FMR1 mRNA in premutation carriers is due to increased transcription. Rna 13:555-562.
    • (2007) Rna , vol.13 , pp. 555-562
    • Tassone, F.1    Beilina, A.2    Carosi, C.3    Albertosi, S.4
  • 25
    • 38749141432 scopus 로고    scopus 로고
    • A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations
    • Tassone F, Pan R, Amiri K, et al. (2008) A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn 10:43-49.
    • (2008) J Mol Diagn , vol.10 , pp. 43-49
    • Tassone, F.1    Pan, R.2    Amiri, K.3
  • 26
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJ, Pieretti M, Sutcliffe JS, et al. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.