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Volumn 43, Issue 1, 1997, Pages 18-23

Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy

Author keywords

gene defects; heteroplasmy; inherited diseases; point mutations; polymerase chain reaction

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0031011981     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/43.1.18     Document Type: Article
Times cited : (16)

References (25)
  • 1
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt U, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-9.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, U.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 2
    • 0029147133 scopus 로고
    • Spectrum of mitochondrial DNA rearrangements in the Pearson marrowpancreas syndrome
    • Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A. Spectrum of mitochondrial DNA rearrangements in the Pearson marrowpancreas syndrome. Hum Mol Genet 1995;4:1327-30.
    • (1995) Hum Mol Genet , vol.4 , pp. 1327-1330
    • Rötig, A.1    Bourgeron, T.2    Chretien, D.3    Rustin, P.4    Munnich, A.5
  • 3
    • 0027526665 scopus 로고
    • Deletion of mitochondrial DNA in a case of early onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)
    • Rötig A, Cormier V, Chatelain P, Francois R, Saudubray JM, Rustin P, Munnich A. Deletion of mitochondrial DNA in a case of early onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest 1993;91:1095-8.
    • (1993) J Clin Invest , vol.91 , pp. 1095-1098
    • Rötig, A.1    Cormier, V.2    Chatelain, P.3    Francois, R.4    Saudubray, J.M.5    Rustin, P.6    Munnich, A.7
  • 4
    • 0026849690 scopus 로고
    • Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
    • Ballinger SW, Shoffner JM, Hedaya EV, et al. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nature Genet 1992;1:11-5.
    • (1992) Nature Genet , vol.1 , pp. 11-15
    • Ballinger, S.W.1    Shoffner, J.M.2    Hedaya, E.V.3
  • 5
    • 0024382854 scopus 로고
    • A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy
    • Singh G, Lott M, Wallace DC. A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy. N Engl J Med 1989;320:1300-5.
    • (1989) N Engl J Med , vol.320 , pp. 1300-1305
    • Singh, G.1    Lott, M.2    Wallace, D.C.3
  • 6
    • 0025368281 scopus 로고
    • Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA-Lys mutation
    • Shoffner JM, Lott MT, Lezza AMS, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA-Lys mutation. Cell 1990;61:931-7.
    • (1990) Cell , vol.61 , pp. 931-937
    • Shoffner, J.M.1    Lott, M.T.2    Lezza, A.M.S.3    Seibel, P.4    Ballinger, S.W.5    Wallace, D.C.6
  • 7
    • 0025666322 scopus 로고
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalo-myopathies
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalo-myopathies. Nature 1990;348:651-3.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 9
    • 0003436550 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 535000 (4/9/1996)
    • Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 535000 (4/9/1996). World Wide Web URL: http://www3.ncbi.nlm.nih.gov/omim/.
    • Online Mendelian Inheritance in Man, OMIM (TM)
  • 10
    • 0027255114 scopus 로고
    • Mutation-specific PCR: A rapid and inexpensive diagnostic method as exemplified by mitochondrial DNA analysis in Leber's hereditary optic neuropathy
    • Norby S. Mutation-specific PCR: a rapid and inexpensive diagnostic method as exemplified by mitochondrial DNA analysis in Leber's hereditary optic neuropathy. DNA Cell Biol 1993;12:549-52.
    • (1993) DNA Cell Biol , vol.12 , pp. 549-552
    • Norby, S.1
  • 11
    • 0028817535 scopus 로고
    • Single-strand conformation polymorphism analysis for the detection of point mutations in the mitochondrial DNA
    • Kim YL, Brown MD, Wallace DC. Single-strand conformation polymorphism analysis for the detection of point mutations in the mitochondrial DNA. Anal Biochem 1995;224:608-11.
    • (1995) Anal Biochem , vol.224 , pp. 608-611
    • Kim, Y.L.1    Brown, M.D.2    Wallace, D.C.3
  • 12
    • 0028047624 scopus 로고
    • Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing
    • Juvonen V, Huoponen K, Syvanen AC, Nikoskelainen E, Savontaus ML. Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing. Hum Genet 1994;93:16-20.
    • (1994) Hum Genet , vol.93 , pp. 16-20
    • Juvonen, V.1    Huoponen, K.2    Syvanen, A.C.3    Nikoskelainen, E.4    Savontaus, M.L.5
  • 13
    • 0006753327 scopus 로고
    • Direct mutation detection by fluorescent solid phase primer extension
    • Metspalu A, Shumaker J, Caskey CT. Direct mutation detection by fluorescent solid phase primer extension. Med Genet 1995;2:108.
    • (1995) Med Genet , vol.2 , pp. 108
    • Metspalu, A.1    Shumaker, J.2    Caskey, C.T.3
  • 14
    • 0025742771 scopus 로고
    • Single-base mutational analysis of cancer and genetic diseases using membrane bound modified oligonucleotides
    • Zhang Y, Coyne MY, Will SG, Levenson CH, Kawasaki ES. Single-base mutational analysis of cancer and genetic diseases using membrane bound modified oligonucleotides. Nucleic Acids Res 1991;19:3929-33.
    • (1991) Nucleic Acids Res , vol.19 , pp. 3929-3933
    • Zhang, Y.1    Coyne, M.Y.2    Will, S.G.3    Levenson, C.H.4    Kawasaki, E.S.5
  • 15
    • 0026811333 scopus 로고
    • Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot
    • Cuppens H, Buyse I, Baens M, Marynen P, Cassiman JJ. Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot. Mol Cell Probes 1992;6:33-9.
    • (1992) Mol Cell Probes , vol.6 , pp. 33-39
    • Cuppens, H.1    Buyse, I.2    Baens, M.3    Marynen, P.4    Cassiman, J.J.5
  • 16
    • 0028272271 scopus 로고
    • Rapid synthesis of standards for allele-specific oligonucleotide hybridization
    • Celi S, Walston J, Silver K, Shuldiner A. Rapid synthesis of standards for allele-specific oligonucleotide hybridization. Trends Genet 1994;10:184-5.
    • (1994) Trends Genet , vol.10 , pp. 184-185
    • Celi, S.1    Walston, J.2    Silver, K.3    Shuldiner, A.4
  • 17
    • 0028574053 scopus 로고
    • Mitochondrial DNA sequence variation in human evolution and disease
    • Wallace DC. Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci U S A 1994;91:8739-46.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 8739-8746
    • Wallace, D.C.1
  • 18
    • 0027993348 scopus 로고
    • Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy
    • Obermaier-Kusser B, Lorenz B, Schubring S, Paprotta A, Zerres K, Meitinger T, et al. Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy. Am J Hum Genet 1994;55:1063-6.
    • (1994) Am J Hum Genet , vol.55 , pp. 1063-1066
    • Obermaier-Kusser, B.1    Lorenz, B.2    Schubring, S.3    Paprotta, A.4    Zerres, K.5    Meitinger, T.6
  • 19
    • 0027458564 scopus 로고
    • Leber's hereditary optic neuropathy: The etiological role of a mutation in the mitochondrial cytochrome b gene
    • Howell N, Kubacha I, Halvorson S, Mackey D. Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene. Genetics 1993;133:133-6.
    • (1993) Genetics , vol.133 , pp. 133-136
    • Howell, N.1    Kubacha, I.2    Halvorson, S.3    Mackey, D.4
  • 21
    • 0027425369 scopus 로고
    • Cytochrome coxidase mutations in Leber hereditary optic neuropathy
    • Johns DR, Neufeld MJ. Cytochrome coxidase mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1993;196:810-5.
    • (1993) Biochem Biophys Res Commun , vol.196 , pp. 810-815
    • Johns, D.R.1    Neufeld, M.J.2
  • 22
    • 0028342847 scopus 로고
    • A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
    • Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci U S A 1994;91:6206-10.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 6206-6210
    • Jun, A.S.1    Brown, M.D.2    Wallace, D.C.3
  • 23
    • 0001442557 scopus 로고
    • Genetic analysis of amplified DNA with immobilized sequence specific oligonucleotide probes
    • Saiki RK, Walsh PS, Levenson CH, Erlich HA. Genetic analysis of amplified DNA with immobilized sequence specific oligonucleotide probes. Proc Natl Acad Sci U S A 1989;86:6230-4.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 6230-6234
    • Saiki, R.K.1    Walsh, P.S.2    Levenson, C.H.3    Erlich, H.A.4
  • 24
    • 0027411121 scopus 로고
    • Efficient 12-mutation testing in the CFTR gene: A general model for complex mutation analysis
    • Shuber AP, Skoletsky J, Stern R, Handelin BL Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis. Hum Mol Genet 1993;2:153-8.
    • (1993) Hum Mol Genet , vol.2 , pp. 153-158
    • Shuber, A.P.1    Skoletsky, J.2    Stern, R.3    Handelin, B.L.4
  • 25
    • 0027399476 scopus 로고
    • Rapid DNA typing of class II HLA antigens using the polymerase chain reaction and reverse dot blot hybridization
    • Buyse I, Decorte R, Baens M, Cuppens H, Semana G, Emonds MP, Cassiman JJ. Rapid DNA typing of class II HLA antigens using the polymerase chain reaction and reverse dot blot hybridization. Tissue Antigens 1993;41:1-14.
    • (1993) Tissue Antigens , vol.41 , pp. 1-14
    • Buyse, I.1    Decorte, R.2    Baens, M.3    Cuppens, H.4    Semana, G.5    Emonds, M.P.6    Cassiman, J.J.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.