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Screening for mt-DNA mutations in optic neuritis of unknown cause

Screening for mt-DNA mutations in optic neuritis of unknown cause
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摘要 To investigate mitochondrial DNA (mt DNA) mutations in optic neuritis of unknown cause(ONUC)and to assess the practical value of mt DNA mutation detection in etiologically and differentially diagnosing ONUC Methods Thirty patients with ONUC were screened for mt DNA mutations of nt11778, nt3460 and nt15257 by using SSCP, mutation specific primer PCR and sequencing Results mt DNA mutations were found in twelve of thirty ONUC patients All of the mutations were at nt11778 position, but no one at nt3460 and nt15257 Conclusions Forty percent (12/30) of ONUC patients were caused by an mt DNA mutation Combined with other routine measures, screening for mt DNA mutations in ONUC patients is of great significance in diagnosing ONUC etiologically and differentially To investigate mitochondrial DNA (mt DNA) mutations in optic neuritis of unknown cause(ONUC)and to assess the practical value of mt DNA mutation detection in etiologically and differentially diagnosing ONUC Methods Thirty patients with ONUC were screened for mt DNA mutations of nt11778, nt3460 and nt15257 by using SSCP, mutation specific primer PCR and sequencing Results mt DNA mutations were found in twelve of thirty ONUC patients All of the mutations were at nt11778 position, but no one at nt3460 and nt15257 Conclusions Forty percent (12/30) of ONUC patients were caused by an mt DNA mutation Combined with other routine measures, screening for mt DNA mutations in ONUC patients is of great significance in diagnosing ONUC etiologically and differentially
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2000年第7期64-66,共3页 中华医学杂志(英文版)
基金 Thisworkwassupportedinpartbythe 86 3PlanofChina (No Z19 0 1 0 4 0 2 )
关键词 optic neuritis mitochondrial DNA MUTATION optic neuritis · mitochondrial DNA · mutation
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参考文献11

  • 1YanM.Ophthalmology. . 1997 被引量:1
  • 2OostraRJ,BolhuisPA,BleekerW.MitochondrialDNAanalysisasadiagnostictoolinsingletoncasesofLeber’shereditaryopticneuropathy. OphthalmolPaediatrGene . 1993 被引量:1
  • 3GuoL,GuoXM,ChenYZ etal.MolecularbiologicaldetectionofLeber’shereditaryopticneuropathy. ChinJOculFundusDis . 1998 被引量:1
  • 4Morrissey SP,Borruat FX,Miller DH,et al.Bilateral simultaneous optic neuropathy in adults: clinical, immaging, serological and genetic studies. Journal of Neurology Neurosurgery and Psychiatry . 1995 被引量:1
  • 5Christopher C,David AM,Edward B.Sporadic Leber hereditary optic neuropathy in Australia and New Zealand. Australian and New Zealand Journal of Ophthalmology . 1996 被引量:1
  • 6Guo L,Guo XM,Jia XY,et al.Screening for mt11778 mutation with mutation-specific primer PCR. Chin J Ocul Fundus Dis . 1998 被引量:1
  • 7MashimaY,Yamada K,Wakakura M,et al.Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber’s hereditary optic neuropathy. Current Eye Research . 1998 被引量:1
  • 8Zhang LS,Huang Y,Zhu B,et al.Molecular and genetic studies on Leber’s disease. Chinese Journal of Ophthalmology . 1993 被引量:1
  • 9Hotta Y,Fujiki K,Hayakawa M,et al.Clinical features of Japanese Leber’s hereditary optic neuropathy with 11778 mutation of mitocondrial DNA. Japanese Journal of Ophthalmology . 1995 被引量:1
  • 10Newman NJ,Lott MT,Wallace DC.The clinical characteristics of pedigrees of Leber’s hereditary optic neuropathy with the 11 778 mutation. American Journal of Ophthalmology . 1991 被引量:1

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