Pitfalls in restriction fragment length polymorphism analysis of Leber's hereditary optic neuropathy patients

Mitochondrion

Volumn 4, Issue 1, 2004, Pages 37-39

  Carrara, F ^a   Chinnery, P F ^b   Man, P Yu Wai ^b   Zeviani, M ^a   Tiranti, V ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; MITOCHONDRIAL DNA;

ARTICLE; CLINICAL FEATURE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS;

EID: 23744449016     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2004.05.003     Document Type: Article

References (8)

1. Chinnery, P.F., Howell, N., Andrews, R.M., Turnbull, D.M., 1999. Mitochondrial DNA analysis: polymorphisms and pathogenicity. J. Med. Genet. 36, 505-510.
2. Johns, D.R., Neufeld, M.J., 1993. Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON). Am. J. Hum. Genet. 53(4), 916-920.October.
3. Mackey, D.A., Oostra, R.-J., Rosenberg, T., Nikoskelainen, E., Bronte-Stewart, J., Poulton, J., et al., 1996. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am. J. Hum. Genet. 59, 481-485.
4. Man, P.Y., Turnbull, D.M., Chinnery, P.F., 2002. Leber hereditary optic neuropathy. J. Med. Genet. 39(3), 162-169.
5. Man, P.Y., Griffiths, P.G., Brown, D.T., Howell, N., Turnbull, D.M., Chinnery, P.F., 2003. The epidemiology of Leber hereditary optic neuropathy in the north East of England. Am. J. Hum. Genet. 72(2), 333-339.February.
6. Mashima, Y., Hiida, Y., Saga, M., Oguchi, Y., Kudoh, J., Shimizu, N., 1995. Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy. Am. J. Ophthalmol. 119(2), 245-246.February.
7. Torroni, A., Petrozzi, M., D'Urbano, L., Sellitto, D., Zeviani, M., Carrara, F., et al., 1997. Haplotype and phylogenetic analyses suggest that European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. Hum. Genet. 60(5), 1107-1121.
8. Yen, M.Y., Wang, A.G., Chang, W.L., Hsu, W.M., Liu, J.H., Wei, Y.H., 2000. False-positive molecular diagnosis of Leber's hereditary optic neuropathy. Zhonghua Yi Xue Za Zhi (Taipei) 63(12), 864-868.December.