Literature DB >> 8318469

Finger prick blood testing in Leber hereditary optic neuropathy.

D Mackey1, S Nasioulas, S Forrest.   

Abstract

Individuals from 33 unrelated Australian families with optic atrophy were screened for 10 different single base alterations in mitochondrial DNA (mtDNA) associated with Leber hereditary optic neuropathy (LHON) using direct polymerase chain reaction amplification of blood spots collected on Guthrie cards. This method using blood spots allows easily accessible screening for LHON mtDNA mutations with minimal biohazard risk and reduced expense in the storage and transport of specimens.

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Year:  1993        PMID： 8318469      PMCID： PMC504511          DOI： 10.1136/bjo.77.5.311

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  14 in total

1.  Improved molecular-genetic diagnosis of Leber's hereditary optic neuropathy.

Authors:  D R Johns
Journal:  N Engl J Med       Date:  1990-11-22       Impact factor: 91.245

2.  Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

Authors:  N Howell; L A Bindoff; D A McCullough; I Kubacka; J Poulton; D Mackey; L Taylor; D M Turnbull
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

3.  Polymerase chain reaction amplification from dried blood spots on Guthrie cards.

Authors:  E I Schwartz; S E Khalchitsky; R C Eisensmith; S L Woo
Journal:  Lancet       Date:  1990-09-08       Impact factor: 79.321

4.  Gene amplification directly from Guthrie blood spots.

Authors:  P V Nelson; W F Carey; C P Morris
Journal:  Lancet       Date:  1990-12-08       Impact factor: 79.321

5.  Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Authors:  D C Wallace; G Singh; M T Lott; J A Hodge; T G Schurr; A M Lezza; L J Elsas; E K Nikoskelainen
Journal:  Science       Date:  1988-12-09       Impact factor: 47.728

6.  A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Authors:  K Huoponen; J Vilkki; P Aula; E K Nikoskelainen; M L Savontaus
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

7.  Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

Authors:  N Howell; I Kubacka; M Xu; D A McCullough
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

8.  An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

Authors:  N Howell; D McCullough
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

9.  Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members.

Authors:  E Nikoskelainen; W F Hoyt; K Nummelin
Journal:  Arch Ophthalmol       Date:  1983-07

10.  Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy.

Authors:  E M Stone; J M Coppinger; R H Kardon; J Donelson
Journal:  Arch Ophthalmol       Date:  1990-10
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  1 in total

1.  Screening of mtDNA mutations in Italian LHON pedigrees.

Authors:  C Carducci; A M De Negri; V Leuzzi; C Terregino; M Torella; P Pivetti Pezzi; I Antonozzi
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982
  1 in total

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