Hum Hered. 1992;42(5):316-20.

Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: no linkage to DXs7.

Carvalho MR, Müller B, Rötzer E, Berninger T, Kommerell G, Blankenagel A, Savontaus ML, Meitinger T, Lorenz B.

Source

Abteilung für pädiatrische Genetik, Universität München, BRD.

Abstract

Leber's hereditary optic neuroretinopathy (LHON) was the first human disease for which mitochondrial inheritance was demonstrated. Analysis of genealogies, however, suggests the existence of an interacting X-linked factor, and linkage to DXS7 was recently described. We tested this location in four LHON families, with DXS7 and two flanking markers, OTC and DXS426. We found recombinations with DXS7 in two families and with DXS426 in one. The two point lod scores to DXS7 were negative with all the allele frequencies for the X-linked factor tested (q = 0.5; 0.35; 0.05).

PMID:: 1360941; [PubMed - indexed for MEDLINE]

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Research Support, Non-U.S. Gov't

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Genetic Markers

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Related citations in PubMed

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. [Am J Hum Genet. 1991]
Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.
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Cited by 11 PubMed Central articles

Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese. [Mol Vis. 2010]
Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese.
Ji Y, Jia X, Li S, Xiao X, Guo X, Zhang Q. Mol Vis. 2010 Mar 11; 16:416-24. Epub 2010 Mar 11.
Review Inherited mitochondrial optic neuropathies. [J Med Genet. 2009]
Review Inherited mitochondrial optic neuropathies.
Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. J Med Genet. 2009 Mar; 46(3):145-58. Epub 2008 Nov 10.
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. [Am J Hum Genet. 2005]
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.
Hudson G, Keers S, Yu Wai Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, et al. Am J Hum Genet. 2005 Dec; 77(6):1086-91. Epub 2005 Oct 11.

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