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Volumn 11, Issue 4, 2009, Pages 232-240

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

Author keywords

CGH array; Comprehensive molecular testing; Single exon and multiexon deletions duplications; Two step approach

Indexed keywords

ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GENETIC PREDISPOSITION; GENETICS; HUMAN; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; REPRODUCIBILITY;

EID: 70349327571     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318195e191     Document Type: Article
Times cited : (36)

References (36)
  • 1
    • 0035964228 scopus 로고    scopus 로고
    • Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
    • Mendell JR, Buzin CH, Feng J, et al. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 2001;57:645-650.
    • (2001) Neurology , vol.57 , pp. 645-650
    • Mendell, J.R.1    Buzin, C.H.2    Feng, J.3
  • 2
    • 23844539257 scopus 로고    scopus 로고
    • Experience and strategy for the molecular testing of Duchenne muscular dystrophy
    • Prior TW, Bridgeman SJ. Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn 2005;7:317-326.
    • (2005) J Mol Diagn , vol.7 , pp. 317-326
    • Prior, T.W.1    Bridgeman, S.J.2
  • 3
    • 0025262104 scopus 로고
    • Becker muscular dystrophy: Correlation of deletion type with clinical severity
    • Norman AM, Thomas NS, Kingston HM, Harper PS. Becker muscular dystrophy: correlation of deletion type with clinical severity. J Med Genet 1990;27:236-239.
    • (1990) J Med Genet , vol.27 , pp. 236-239
    • Norman, A.M.1    Thomas, N.S.2    Kingston, H.M.3    Harper, P.S.4
  • 4
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-1080.
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.1    Rommens, J.M.2    Buchanan, J.A.3
  • 5
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: A worldwide analysis of CFTR mutations-correlation with incidence data and application to screening
    • Bobadilla JL, Macek M Jr, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 2002;19:575-606.
    • (2002) Hum Mutat , vol.19 , pp. 575-606
    • Bobadilla, J.L.1    Macek, M.2    Fine, J.P.3    Farrell, P.M.4
  • 6
    • 43749090634 scopus 로고    scopus 로고
    • Detecting mutations in the APC gene in familial adenomatous polyposis (FAP)
    • 10.8
    • Hegde MR, Roa BB. Detecting mutations in the APC gene in familial adenomatous polyposis (FAP). Curr Protoc Hum Genet 2006;10:10.8.
    • (2006) Curr Protoc Hum Genet , vol.10
    • Hegde, M.R.1    Roa, B.B.2
  • 10
    • 0032915812 scopus 로고    scopus 로고
    • Detection of virtually all mutations-SSCP (DOVAM-S): A rapid method for mutation scanning with virtually 100% sensitivity
    • 936-938, 940-932
    • Liu Q, Feng J, Buzin C, et al. Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity. Biotechniques 1999;26:932, 936-938, 940-932.
    • (1999) Biotechniques , vol.26 , pp. 932
    • Liu, Q.1    Feng, J.2    Buzin, C.3
  • 11
    • 0034036849 scopus 로고    scopus 로고
    • Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: Evidence that the scanning conditions are generic
    • Buzin CH, Wen CY, Nguyen VQ, et al. Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: evidence that the scanning conditions are generic. Biotechniques 2000;28:746-750, 752-743.
    • (2000) Biotechniques , vol.28
    • Buzin, C.H.1    Wen, C.Y.2    Nguyen, V.Q.3
  • 14
    • 35148860987 scopus 로고    scopus 로고
    • A large-scale validation of dosage analysis by robust dosage-polymerase chain reaction
    • Nguyen VQ, Liu Q, Sommer SS. A large-scale validation of dosage analysis by robust dosage-polymerase chain reaction. Anal Biochem 2007;371:37-42.
    • (2007) Anal Biochem , vol.371 , pp. 37-42
    • Nguyen, V.Q.1    Liu, Q.2    Sommer, S.S.3
  • 15
    • 0026522569 scopus 로고
    • Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene
    • Abbs S, Bobrow M. Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. J Med Genet 1992;29:191-196.
    • (1992) J Med Genet , vol.29 , pp. 191-196
    • Abbs, S.1    Bobrow, M.2
  • 16
    • 0034213622 scopus 로고    scopus 로고
    • Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments
    • Charbonnier F, Raux G, Wang Q, et al. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Res 2000;60:2760-2763.
    • (2000) Cancer Res , vol.60 , pp. 2760-2763
    • Charbonnier, F.1    Raux, G.2    Wang, Q.3
  • 17
    • 34147119179 scopus 로고    scopus 로고
    • Comparative genomic hybridization arrays in clinical pathology: Progress and challenges
    • Gunn SR, Robetorye RS, Mohammed MS. Comparative genomic hybridization arrays in clinical pathology: progress and challenges. Mol Diagn Ther 2007;11:73-77.
    • (2007) Mol Diagn Ther , vol.11 , pp. 73-77
    • Gunn, S.R.1    Robetorye, R.S.2    Mohammed, M.S.3
  • 18
    • 47549119057 scopus 로고    scopus 로고
    • Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions
    • Wong LJ, Dimmock D, Geraghty MT, et al. Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. Clin Chem 2008;54:1141-1148.
    • (2008) Clin Chem , vol.54 , pp. 1141-1148
    • Wong, L.J.1    Dimmock, D.2    Geraghty, M.T.3
  • 19
    • 17644397384 scopus 로고    scopus 로고
    • Exon array CGH: Detection of copy-number changes at the resolution of individual exons in the human genome
    • Dhami P, Coffey AJ, Abbs S, et al. Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet 2005;76:750-762.
    • (2005) Am J Hum Genet , vol.76 , pp. 750-762
    • Dhami, P.1    Coffey, A.J.2    Abbs, S.3
  • 20
    • 42049084015 scopus 로고    scopus 로고
    • Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH)
    • Staaf J, Torngren T, Rambech E, et al. Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH). Hum Mutat 2008;29:555-564.
    • (2008) Hum Mutat , vol.29 , pp. 555-564
    • Staaf, J.1    Torngren, T.2    Rambech, E.3
  • 22
    • 12344259648 scopus 로고    scopus 로고
    • Analysis of array CGH data: From signal ratio to gain and loss of DNA regions
    • Hupe P, Stransky N, Thiery JP, Radvanyi F, Barillot E. Analysis of array CGH data: from signal ratio to gain and loss of DNA regions. Bioinformatics 2004;20:3413-3422.
    • (2004) Bioinformatics , vol.20 , pp. 3413-3422
    • Hupe, P.1    Stransky, N.2    Thiery, J.P.3    Radvanyi, F.4    Barillot, E.5
  • 23
    • 0028133118 scopus 로고
    • Molecular basis of maple syrup urine disease: Novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex
    • Chuang JL, Fisher CR, Cox RP, Chuang DT. Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. Am J Hum Genet 1994;55:297-304.
    • (1994) Am J Hum Genet , vol.55 , pp. 297-304
    • Chuang, J.L.1    Fisher, C.R.2    Cox, R.P.3    Chuang, D.T.4
  • 24
    • 0035158447 scopus 로고    scopus 로고
    • Gene preference in maple syrup urine disease
    • Nellis MM, Danner DJ. Gene preference in maple syrup urine disease. Am J Hum Genet 2001;68:232-237.
    • (2001) Am J Hum Genet , vol.68 , pp. 232-237
    • Nellis, M.M.1    Danner, D.J.2
  • 25
    • 0142121293 scopus 로고    scopus 로고
    • Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression
    • Nellis MM, Kasinski A, Carlson M, et al. Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression. Mol Genet Metab 2003;80:189-195.
    • (2003) Mol Genet Metab , vol.80 , pp. 189-195
    • Nellis, M.M.1    Kasinski, A.2    Carlson, M.3
  • 26
    • 0025802632 scopus 로고
    • Molecular basis of galactosemia: Mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase
    • Reichardt JK, Woo SL. Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Proc Natl Acad Sci U S A 1991;88:2633-2637.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 2633-2637
    • Reichardt, J.K.1    Woo, S.L.2
  • 27
    • 0016769572 scopus 로고
    • Rennes-like variant of galactosemia: Clinical and biochemical studies
    • Hammersen G, Houghton S, Levy HL. Rennes-like variant of galactosemia: clinical and biochemical studies. J Pediatr 1975;87:50-57.
    • (1975) J Pediatr , vol.87 , pp. 50-57
    • Hammersen, G.1    Houghton, S.2    Levy, H.L.3
  • 29
    • 33750570260 scopus 로고    scopus 로고
    • Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene
    • Coffee B, Hjelm LN, DeLorenzo A, Courtney EM, Yu C, Muralidharan K. Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene. Genet Med 2006;8:635-640.
    • (2006) Genet Med , vol.8 , pp. 635-640
    • Coffee, B.1    Hjelm, L.N.2    DeLorenzo, A.3    Courtney, E.M.4    Yu, C.5    Muralidharan, K.6
  • 30
    • 0028239905 scopus 로고
    • Krabbe disease: Isolation and characterization of a full-length cDNA for human galactocerebrosidase
    • Sakai N, Inui K, Fujii N, et al. Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. Biochem Biophys Res Commun 1994;198:485-491.
    • (1994) Biochem Biophys Res Commun , vol.198 , pp. 485-491
    • Sakai, N.1    Inui, K.2    Fujii, N.3
  • 31
    • 0029156759 scopus 로고
    • A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease
    • Rafi MA, Luzi P, Chen YQ, Wenger DA. A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Hum Mol Genet 1995;4:1285-1289.
    • (1995) Hum Mol Genet , vol.4 , pp. 1285-1289
    • Rafi, M.A.1    Luzi, P.2    Chen, Y.Q.3    Wenger, D.A.4
  • 32
    • 0028827824 scopus 로고
    • Characterization of the large deletion in the GALC gene found in patients with Krabbe disease
    • Luzi P, Rafi MA, Wenger DA. Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Hum Mol Genet 1995;4:2335-2338.
    • (1995) Hum Mol Genet , vol.4 , pp. 2335-2338
    • Luzi, P.1    Rafi, M.A.2    Wenger, D.A.3
  • 33
    • 0021072277 scopus 로고
    • Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria
    • Woo SL, Lidsky AS, Guttler F, Chandra T, Robson KJ. Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature 1983;306:151-155.
    • (1983) Nature , vol.306 , pp. 151-155
    • Woo, S.L.1    Lidsky, A.S.2    Guttler, F.3    Chandra, T.4    Robson, K.J.5
  • 34
    • 38149014672 scopus 로고    scopus 로고
    • Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    • Zurfluh MR, Zschocke J, Lindner M, et al. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat 2008;29:167-175.
    • (2008) Hum Mutat , vol.29 , pp. 167-175
    • Zurfluh, M.R.1    Zschocke, J.2    Lindner, M.3
  • 35
    • 43249094381 scopus 로고    scopus 로고
    • Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community
    • Quental S, Macedo-Ribeiro S, Matos R, et al. Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. Mol Genet Metab 2008;94:148-156.
    • (2008) Mol Genet Metab , vol.94 , pp. 148-156
    • Quental, S.1    Macedo-Ribeiro, S.2    Matos, R.3


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