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Volumn 363, Issue 1-2, 2006, Pages 138-146

Duplication and deletion analysis by fluorescent real-time PCR-based genotyping

Author keywords

Deletions; Duplications; Gene dosage; Melting curves; Real time PCR; SNPs

Indexed keywords

FLUORESCENT DYE;

EID: 28544451004     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cccn.2005.05.044     Document Type: Review
Times cited : (11)

References (39)
  • 1
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • J. Sebat, B. Lakshmi, and J. Troge Large-scale copy number polymorphism in the human genome Science 305 2004 525 528
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3
  • 2
    • 0037047628 scopus 로고    scopus 로고
    • Recent segmental duplications in the human genome
    • J.A. Bailey, Z. Gu, and R.A. Clark Recent segmental duplications in the human genome Science 297 2002 1003 1007
    • (2002) Science , vol.297 , pp. 1003-1007
    • Bailey, J.A.1    Gu, Z.2    Clark, R.A.3
  • 3
    • 4444291843 scopus 로고    scopus 로고
    • Detection of large-scale variation in the human genome
    • A.J. Iafrate, L. Feuk, and M.N. Rivera Detection of large-scale variation in the human genome Nat Genet 36 2004 949 951
    • (2004) Nat Genet , vol.36 , pp. 949-951
    • Iafrate, A.J.1    Feuk, L.2    Rivera, M.N.3
  • 4
    • 0034513406 scopus 로고    scopus 로고
    • Molecular mechanisms for constitutional chromosomal rearrangements in humans
    • L.G. Shaffer, and J.R. Lupski Molecular mechanisms for constitutional chromosomal rearrangements in humans Annu Rev Genet 34 2000 297 329
    • (2000) Annu Rev Genet , vol.34 , pp. 297-329
    • Shaffer, L.G.1    Lupski, J.R.2
  • 5
    • 0035746665 scopus 로고    scopus 로고
    • Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review
    • T.H. Shaikh, H. Kurahashi, and B.S. Emanuel Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review Genet Med 3 2001 6 13
    • (2001) Genet Med , vol.3 , pp. 6-13
    • Shaikh, T.H.1    Kurahashi, H.2    Emanuel, B.S.3
  • 6
    • 0034028921 scopus 로고    scopus 로고
    • Structure of chromosomal duplicons and their role in mediating human genomic disorders
    • Y. Ji, E.E. Eichler, S. Schwartz, and R.D. Nicholls Structure of chromosomal duplicons and their role in mediating human genomic disorders Genome Res 10 2000 597 610
    • (2000) Genome Res , vol.10 , pp. 597-610
    • Ji, Y.1    Eichler, E.E.2    Schwartz, S.3    Nicholls, R.D.4
  • 7
    • 0035487212 scopus 로고    scopus 로고
    • Segmental duplications: An 'expanding' role in genomic instability and disease
    • B.S. Emanuel, and T.H. Shaikh Segmental duplications: an 'expanding' role in genomic instability and disease Nat Rev Genet 2 2001 791 800
    • (2001) Nat Rev Genet , vol.2 , pp. 791-800
    • Emanuel, B.S.1    Shaikh, T.H.2
  • 8
    • 0026849499 scopus 로고
    • Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A
    • J.R. Lupski, C.A. Wise, and A. Kuwano Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A Nat Genet 1 1992 29 33
    • (1992) Nat Genet , vol.1 , pp. 29-33
    • Lupski, J.R.1    Wise, C.A.2    Kuwano, A.3
  • 9
    • 0025868571 scopus 로고
    • DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    • J.R. Lupski, R.M. de Oca-Luna, and S. Slaugenhaupt DNA duplication associated with Charcot-Marie-Tooth disease type 1A Cell 66 1991 219 232
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1    De Oca-Luna, R.M.2    Slaugenhaupt, S.3
  • 10
    • 0027509953 scopus 로고
    • DNA deletion associated with hereditary neuropathy with liability to pressure palsies
    • P.F. Chance, M.K. Alderson, and K.A. Leppig DNA deletion associated with hereditary neuropathy with liability to pressure palsies Cell 72 1993 143 151
    • (1993) Cell , vol.72 , pp. 143-151
    • Chance, P.F.1    Alderson, M.K.2    Leppig, K.A.3
  • 11
    • 0027017033 scopus 로고
    • Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
    • L. Pentao, C.A. Wise, A.C. Chinault, P.I. Patel, and J.R. Lupski Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit Nat Genet 2 1992 292 300
    • (1992) Nat Genet , vol.2 , pp. 292-300
    • Pentao, L.1    Wise, C.A.2    Chinault, A.C.3    Patel, P.I.4    Lupski, J.R.5
  • 12
    • 0034028921 scopus 로고    scopus 로고
    • Structure of chromosomal duplicons and their role in mediating human genomic disorders
    • Y. Ji, E.E. Eichler, S. Schwartz, and R.D. Nicholls Structure of chromosomal duplicons and their role in mediating human genomic disorders Genome Res 10 2000 597 610
    • (2000) Genome Res , vol.10 , pp. 597-610
    • Ji, Y.1    Eichler, E.E.2    Schwartz, S.3    Nicholls, R.D.4
  • 13
    • 0035421416 scopus 로고    scopus 로고
    • The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset Parkinsonism
    • K. Hedrich, M. Kann, and A.J. Lanthaler The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset Parkinsonism Hum Mol Genet 10 2001 1649 1656
    • (2001) Hum Mol Genet , vol.10 , pp. 1649-1656
    • Hedrich, K.1    Kann, M.2    Lanthaler, A.J.3
  • 14
    • 0033775696 scopus 로고    scopus 로고
    • Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions
    • C. Ruiz-Ponte, L. Loidi, A. Vega, A. Carracedo, and F. Barros Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions Clin Chem 46 2000 1574 1582
    • (2000) Clin Chem , vol.46 , pp. 1574-1582
    • Ruiz-Ponte, C.1    Loidi, L.2    Vega, A.3    Carracedo, A.4    Barros, F.5
  • 15
    • 0038723182 scopus 로고    scopus 로고
    • Determination of SMN1 and SMN2 copy number using TaqMan technology
    • D. Anhuf, T. Eggermann, S. Rudnik-Schoneborn, and K. Zerres Determination of SMN1 and SMN2 copy number using TaqMan technology Hum Mutat 22 2003 74 78
    • (2003) Hum Mutat , vol.22 , pp. 74-78
    • Anhuf, D.1    Eggermann, T.2    Rudnik-Schoneborn, S.3    Zerres, K.4
  • 16
    • 10744230160 scopus 로고    scopus 로고
    • High-resolution analysis of DNA copy number using oligonucleotide microarrays
    • G.R. Bignell, J. Huang, and J. Greshock High-resolution analysis of DNA copy number using oligonucleotide microarrays Genome Res 14 2004 287 295
    • (2004) Genome Res , vol.14 , pp. 287-295
    • Bignell, G.R.1    Huang, J.2    Greshock, J.3
  • 17
    • 3442885372 scopus 로고    scopus 로고
    • Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: Comparison with the interphase FISH method
    • H. Slater, D. Bruno, and H. Ren Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method Hum Mutat 24 2004 164 171
    • (2004) Hum Mutat , vol.24 , pp. 164-171
    • Slater, H.1    Bruno, D.2    Ren, H.3
  • 18
    • 0036409283 scopus 로고    scopus 로고
    • The detection of large deletions or duplications in genomic DNA
    • J.A. Armour, D.E. Barton, D.J. Cockburn, and G.R. Taylor The detection of large deletions or duplications in genomic DNA Hum Mutat 20 2002 325 337
    • (2002) Hum Mutat , vol.20 , pp. 325-337
    • Armour, J.A.1    Barton, D.E.2    Cockburn, D.J.3    Taylor, G.R.4
  • 19
    • 0036791411 scopus 로고    scopus 로고
    • High-throughput detection of submicroscopic deletions and methylation status at 15q11-q13 by a photo-cross-linking oligonucleotide hybridization assay
    • R. Peoples, H. Weltman, and R. Van Atta High-throughput detection of submicroscopic deletions and methylation status at 15q11-q13 by a photo-cross-linking oligonucleotide hybridization assay Clin Chem 48 2002 1844 1850
    • (2002) Clin Chem , vol.48 , pp. 1844-1850
    • Peoples, R.1    Weltman, H.2    Van Atta, R.3
  • 20
    • 0037299356 scopus 로고    scopus 로고
    • A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP
    • C.T. Thiel, C. Kraus, A. Rauch, A.B. Ekici, B. Rautenstrauss, and A. Reis A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP Eur J Hum Genet 11 2003 170 178
    • (2003) Eur J Hum Genet , vol.11 , pp. 170-178
    • Thiel, C.T.1    Kraus, C.2    Rauch, A.3    Ekici, A.B.4    Rautenstrauss, B.5    Reis, A.6
  • 21
    • 0038491502 scopus 로고    scopus 로고
    • A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR
    • P. Lorentzos, T. Kaiser, M.L. Kennerson, and G.A. Nicholson A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR Genet Test 7 2003 135 138
    • (2003) Genet Test , vol.7 , pp. 135-138
    • Lorentzos, P.1    Kaiser, T.2    Kennerson, M.L.3    Nicholson, G.A.4
  • 22
    • 0034754559 scopus 로고    scopus 로고
    • High resolution comparative genomic hybridisation in clinical cytogenetics
    • M. Kirchhoff, H. Rose, and C. Lundsteen High resolution comparative genomic hybridisation in clinical cytogenetics J Med Genet 38 2001 740 744
    • (2001) J Med Genet , vol.38 , pp. 740-744
    • Kirchhoff, M.1    Rose, H.2    Lundsteen, C.3
  • 23
    • 0042320931 scopus 로고    scopus 로고
    • Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): A prospective study of 130 patients with inherited peripheral neuropathies
    • N. Ravise, O. Dubourg, and S. Tardieu Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies Am J Med Genet A 118 2003 43 48
    • (2003) Am J Med Genet a , vol.118 , pp. 43-48
    • Ravise, N.1    Dubourg, O.2    Tardieu, S.3
  • 25
    • 0025801605 scopus 로고
    • The effect of temperature and oligonucleotide primer length on the specificity and efficiency of amplification by the polymerase chain reaction
    • D.Y. Wu, L. Ugozzoli, B.K. Pal, J. Qian, and R.B. Wallace The effect of temperature and oligonucleotide primer length on the specificity and efficiency of amplification by the polymerase chain reaction DNA Cell Biol 10 1991 233 238
    • (1991) DNA Cell Biol , vol.10 , pp. 233-238
    • Wu, D.Y.1    Ugozzoli, L.2    Pal, B.K.3    Qian, J.4    Wallace, R.B.5
  • 26
    • 0033775615 scopus 로고    scopus 로고
    • Absolute quantification of mRNA using real-time reverse transcription polymerase chain reaction assays
    • S.A. Bustin Absolute quantification of mRNA using real-time reverse transcription polymerase chain reaction assays J Mol Endocrinol 25 2000 169 193
    • (2000) J Mol Endocrinol , vol.25 , pp. 169-193
    • Bustin, S.A.1
  • 27
    • 0036278859 scopus 로고    scopus 로고
    • Gene quantification using real-time quantitative PCR: An emerging technology hits the mainstream
    • D.G. Ginzinger Gene quantification using real-time quantitative PCR: an emerging technology hits the mainstream Exp Hematol 30 2002 503 512
    • (2002) Exp Hematol , vol.30 , pp. 503-512
    • Ginzinger, D.G.1
  • 28
    • 0033912695 scopus 로고    scopus 로고
    • Detection of chromosomal aberrations by a whole-genome microsatellite screen
    • M.J. Rosenberg, D. Vaske, and C.E. Killoran Detection of chromosomal aberrations by a whole-genome microsatellite screen Am J Hum Genet 66 2000 419 427
    • (2000) Am J Hum Genet , vol.66 , pp. 419-427
    • Rosenberg, M.J.1    Vaske, D.2    Killoran, C.E.3
  • 29
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    • J.P. Schouten, C.J. McElgunn, R. Waaijer, D. Zwijnenburg, F. Diepvens, and G. Pals Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification Nucleic Acids Res 30 2002 e57
    • (2002) Nucleic Acids Res , vol.30 , pp. 57
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3    Zwijnenburg, D.4    Diepvens, F.5    Pals, G.6
  • 30
    • 2342578875 scopus 로고    scopus 로고
    • MLPA and MAPH: New techniques for detection of gene deletions
    • L.N. Sellner, and G.R. Taylor MLPA and MAPH: new techniques for detection of gene deletions Hum Mutat 23 2004 413 419
    • (2004) Hum Mutat , vol.23 , pp. 413-419
    • Sellner, L.N.1    Taylor, G.R.2
  • 32
    • 0344736713 scopus 로고    scopus 로고
    • The thermodynamics of template-directed DNA synthesis: Base insertion and extension enthalpies
    • C.A.S.A. Minetti, D.P. Remeta, and H. Miller The thermodynamics of template-directed DNA synthesis: base insertion and extension enthalpies Proc Natl Acad Sci 100 2003 14719 14724
    • (2003) Proc Natl Acad Sci , vol.100 , pp. 14719-14724
    • Minetti, C.A.S.A.1    Remeta, D.P.2    Miller, H.3
  • 33
    • 0032539693 scopus 로고    scopus 로고
    • A unified view of polymer, dumbbell, and oligonucleotide DNA nearest-neighbor thermodynamics
    • J. Santalucia A unified view of polymer, dumbbell, and oligonucleotide DNA nearest-neighbor thermodynamics Proc Natl Acad Sci U S A 95 1998 1460 1465
    • (1998) Proc Natl Acad Sci U S a , vol.95 , pp. 1460-1465
    • Santalucia, J.1
  • 34
    • 0031917762 scopus 로고    scopus 로고
    • DNA Polymerase fidelity: From genetics toward a biochemical understanding
    • M.F. Goodman, and D.K. Fygenson DNA Polymerase fidelity: from genetics toward a biochemical understanding Genetics 148 1998 1475 1482
    • (1998) Genetics , vol.148 , pp. 1475-1482
    • Goodman, M.F.1    Fygenson, D.K.2
  • 36
    • 0034771194 scopus 로고    scopus 로고
    • Oligonucleotide melting temperatures under PCR conditions: Nearest-neighbor corrections for Mg2+, deoxynucleotide triphosphate, and dimethyl sulfoxide concentrations with comparison to alternative empirical formulas
    • N. Ahsen1a, C.T. Wittwer, and E. Schütz1 Oligonucleotide melting temperatures under PCR conditions: nearest-neighbor corrections for Mg2+, deoxynucleotide triphosphate, and dimethyl sulfoxide concentrations with comparison to alternative empirical formulas Clin Chem 47 2001 1956 1961
    • (2001) Clin Chem , vol.47 , pp. 1956-1961
    • Ahsenla, N.1    Wittwer, C.T.2    Schütz, E.3
  • 37
    • 28544445041 scopus 로고    scopus 로고
    • Rapid detection of gene duplications in Charcot-Marie-Tooth 1A disease by SNP genotyping using real-time PCR
    • C. Wittwer M. Hahn K. Kaul Springer Verlag Berlin
    • C. Ruiz-Ponte, A. Vega, L. Loidi, A. Carracedo, and F. Barros Rapid detection of gene duplications in Charcot-Marie-Tooth 1A disease by SNP genotyping using real-time PCR C. Wittwer M. Hahn K. Kaul Cycle real-time PCR-methods and applications. Quantification 2004 Springer Verlag Berlin 159 169
    • (2004) Cycle Real-time PCR-methods and Applications. Quantification , pp. 159-169
    • Ruiz-Ponte, C.1    Vega, A.2    Loidi, L.3    Carracedo, A.4    Barros, F.5
  • 38
    • 0032437725 scopus 로고    scopus 로고
    • Detection and identification of base alterations within the region of Factor V Leiden by fluorescent melting curves
    • E. Lyon, A. Millson, T. Phan, and C.T. Wittwer Detection and identification of base alterations within the region of Factor V Leiden by fluorescent melting curves Mol Diagn 3 1998 203 210
    • (1998) Mol Diagn , vol.3 , pp. 203-210
    • Lyon, E.1    Millson, A.2    Phan, T.3    Wittwer, C.T.4
  • 39
    • 0030614426 scopus 로고    scopus 로고
    • The LightCycler™: A microvolume multisample fluorimeter with rapid temperature control
    • C.T. Wittwer, K.M. Ririe, R.V. Andrew, D.A. David, R.A. Gundry, and U.J. Balis The LightCycler™: a microvolume multisample fluorimeter with rapid temperature control Biotechniques 22 1997 176 181
    • (1997) Biotechniques , vol.22 , pp. 176-181
    • Wittwer, C.T.1    Ririe, K.M.2    Andrew, R.V.3    David, D.A.4    Gundry, R.A.5    Balis, U.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.