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Volumn 411, Issue 21-22, 2010, Pages 1671-1674

Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR

Author keywords

General population; LHON; MAS PCR; MtDNA; Primary mutation

Indexed keywords

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; HETEROPLASMY; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROCESS OPTIMIZATION; SENSITIVITY ANALYSIS;

EID: 77956454162     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.06.026     Document Type: Article
Times cited : (21)

References (30)
  • 2
  • 3
    • 33745870877 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy: a multifactorial disease
    • Yen M.-Y., Wang A.-G., Wei Y.-H. Leber's hereditary optic neuropathy: a multifactorial disease. Prog Retin Eye Res 2006, 25:381-396.
    • (2006) Prog Retin Eye Res , vol.25 , pp. 381-396
    • Yen, M.-Y.1    Wang, A.-G.2    Wei, Y.-H.3
  • 4
    • 39049156470 scopus 로고    scopus 로고
    • Prevalence of mitochondrial DNA disease in adults
    • Schaefer A.M., McFarland R., Blakely E.L., et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008, 63:35-39.
    • (2008) Ann Neurol , vol.63 , pp. 35-39
    • Schaefer, A.M.1    McFarland, R.2    Blakely, E.L.3
  • 6
    • 34848868793 scopus 로고    scopus 로고
    • Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland
    • Puomila A., Hämäläinen P., Kivioja S., et al. Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. Eur J Hum Genet 2007, 15:1079-1089.
    • (2007) Eur J Hum Genet , vol.15 , pp. 1079-1089
    • Puomila, A.1    Hämäläinen, P.2    Kivioja, S.3
  • 7
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace D.C., Singh G., Lott M.T., et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988, 242:1427-1430.
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 8
    • 0029816017 scopus 로고    scopus 로고
    • Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
    • Mackey D.A., Oostra R.-J., Rosenberg T., et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 1996, 59:481-485.
    • (1996) Am J Hum Genet , vol.59 , pp. 481-485
    • Mackey, D.A.1    Oostra, R.-J.2    Rosenberg, T.3
  • 9
    • 0026757115 scopus 로고
    • An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
    • Johns D.R., Neufeld M.J., Park R.D. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1992, 187:1551-1557.
    • (1992) Biochem Biophys Res Commun , vol.187 , pp. 1551-1557
    • Johns, D.R.1    Neufeld, M.J.2    Park, R.D.3
  • 11
    • 33749057750 scopus 로고    scopus 로고
    • Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy
    • Jia X., Li S., Xiao X., Guo X., Zhang Q. Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy. J Hum Genet 2006, 51:851-856.
    • (2006) J Hum Genet , vol.51 , pp. 851-856
    • Jia, X.1    Li, S.2    Xiao, X.3    Guo, X.4    Zhang, Q.5
  • 12
    • 34547796899 scopus 로고    scopus 로고
    • Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    • Hudson G., Carelli V., Spruijt L., et al. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 2007, 81:228-233.
    • (2007) Am J Hum Genet , vol.81 , pp. 228-233
    • Hudson, G.1    Carelli, V.2    Spruijt, L.3
  • 14
    • 0035931511 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
    • Chinnery P.F., Andrews R.M., Turnbull D.M., Howell N.N. Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?. Am J Med Genet 2001, 98:235-243.
    • (2001) Am J Med Genet , vol.98 , pp. 235-243
    • Chinnery, P.F.1    Andrews, R.M.2    Turnbull, D.M.3    Howell, N.N.4
  • 15
    • 0035028184 scopus 로고    scopus 로고
    • Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy
    • Jacobi F.K., Leo-Kottler B., Mittelviefhaus K., et al. Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 2001, 42:1208-1214.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 1208-1214
    • Jacobi, F.K.1    Leo-Kottler, B.2    Mittelviefhaus, K.3
  • 16
    • 34548627532 scopus 로고    scopus 로고
    • DNA replication and transcription in mammalian mitochondria
    • Falkenberg M., Larsson N.G., Gustafsson C.M. DNA replication and transcription in mammalian mitochondria. Annu Rev Biochem 2007, 76:679-699.
    • (2007) Annu Rev Biochem , vol.76 , pp. 679-699
    • Falkenberg, M.1    Larsson, N.G.2    Gustafsson, C.M.3
  • 18
    • 0025781645 scopus 로고
    • Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming
    • Nørby S., Lestienne P., Nelson I., Rosenberg T. Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming. Biochem Biophys Res Commun 1991, 175:631-636.
    • (1991) Biochem Biophys Res Commun , vol.175 , pp. 631-636
    • Nørby, S.1    Lestienne, P.2    Nelson, I.3    Rosenberg, T.4
  • 19
    • 0027172546 scopus 로고
    • Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification
    • Nørby S. Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification. Hum Mutat 1993, 2:309-313.
    • (1993) Hum Mutat , vol.2 , pp. 309-313
    • Nørby, S.1
  • 20
    • 67650449013 scopus 로고    scopus 로고
    • Rapid genetic analysis in the diagnosis of primary Leber's hereditary optic neuropathy by using multiplex allele-specific polymerase chain reaction (MAS-PCR) with whole blood
    • Yang J., Tong Y., Zhu Y., Lin Y., Chen Y., Lin J. Rapid genetic analysis in the diagnosis of primary Leber's hereditary optic neuropathy by using multiplex allele-specific polymerase chain reaction (MAS-PCR) with whole blood. Chin. J. Optom. Ophthalmol. 2006, 8:349-351.
    • (2006) Chin. J. Optom. Ophthalmol. , vol.8 , pp. 349-351
    • Yang, J.1    Tong, Y.2    Zhu, Y.3    Lin, Y.4    Chen, Y.5    Lin, J.6
  • 21
    • 77954659837 scopus 로고    scopus 로고
    • Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy. Neurogenetics
    • Yu D, Jia X, Zhang AM, et al. Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy. Neurogenetics 2010;11:349-56.
    • (2010) , vol.11 , pp. 349-56
    • Yu, D.1    Jia, X.2    Zhang, A.M.3
  • 22
    • 57049107326 scopus 로고    scopus 로고
    • Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G>A mutation
    • Ji Y., Zhang A.-M., Jia X., et al. Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G>A mutation. Am J Hum Genet 2008, 83:760-768.
    • (2008) Am J Hum Genet , vol.83 , pp. 760-768
    • Ji, Y.1    Zhang, A.-M.2    Jia, X.3
  • 23
    • 77951868801 scopus 로고    scopus 로고
    • The acquisition of an inheritable 50-bp deletion in the human mtDNA control region does not affect the mtDNA copy number in peripheral blood cells
    • Bi R., Zhang A.-M., Zhang W., et al. The acquisition of an inheritable 50-bp deletion in the human mtDNA control region does not affect the mtDNA copy number in peripheral blood cells. Hum Mutat 2010, 31:538-543.
    • (2010) Hum Mutat , vol.31 , pp. 538-543
    • Bi, R.1    Zhang, A.-M.2    Zhang, W.3
  • 25
    • 0028879575 scopus 로고
    • Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis
    • Jaksch M., Gerbitz K.-D., Kilger C. Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis. Clin Biochem 1995, 28:503-509.
    • (1995) Clin Biochem , vol.28 , pp. 503-509
    • Jaksch, M.1    Gerbitz, K.-D.2    Kilger, C.3
  • 26
    • 58849163658 scopus 로고    scopus 로고
    • Two-round allele specific-polymerase chain reaction: a simple and highly sensitive method for JAK2V617F mutation detection
    • Kannim S., Thongnoppakhun W., Auewarakul C.U. Two-round allele specific-polymerase chain reaction: a simple and highly sensitive method for JAK2V617F mutation detection. Clin Chim Acta 2009, 401:148-151.
    • (2009) Clin Chim Acta , vol.401 , pp. 148-151
    • Kannim, S.1    Thongnoppakhun, W.2    Auewarakul, C.U.3
  • 27
    • 2042538031 scopus 로고    scopus 로고
    • Multiplex allele-specific PCR assay for differential diagnosis of Hb S, Hb D-Punjab and Hb Tak
    • Sanchaisuriya K., Chunpanich S., Fucharoen G., Fucharoen S. Multiplex allele-specific PCR assay for differential diagnosis of Hb S, Hb D-Punjab and Hb Tak. Clin Chim Acta 2004, 343:129-134.
    • (2004) Clin Chim Acta , vol.343 , pp. 129-134
    • Sanchaisuriya, K.1    Chunpanich, S.2    Fucharoen, G.3    Fucharoen, S.4
  • 28
    • 0029912105 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation
    • Black G.C., Morten K., Laborde A., Poulton J. Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation. Br J Ophthalmol 1996, 80:915-917.
    • (1996) Br J Ophthalmol , vol.80 , pp. 915-917
    • Black, G.C.1    Morten, K.2    Laborde, A.3    Poulton, J.4
  • 29
    • 0028100561 scopus 로고
    • A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation
    • Howell N., Xu M., Halvorson S., Bodis-Wollner I., Sherman J. A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation. Am J Hum Genet 1994, 55:203-206.
    • (1994) Am J Hum Genet , vol.55 , pp. 203-206
    • Howell, N.1    Xu, M.2    Halvorson, S.3    Bodis-Wollner, I.4    Sherman, J.5
  • 30
    • 0030989776 scopus 로고    scopus 로고
    • Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy
    • Juvonen V., Nikoskelainen E., Lamminen T., Penttinen M., Aula P., Savontaus M.-L. Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy. Hum Mutat 1997, 9:412-417.
    • (1997) Hum Mutat , vol.9 , pp. 412-417
    • Juvonen, V.1    Nikoskelainen, E.2    Lamminen, T.3    Penttinen, M.4    Aula, P.5    Savontaus, M.-L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.