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

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 f...

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Bibliographic Details
Published inHuman heredity Vol. 42; no. 5; p. 316
Main Authors Carvalho, M R, Müller, B, Rötzer, E, Berninger, T, Kommerell, G, Blankenagel, A, Savontaus, M L, Meitinger, T, Lorenz, B
Format Journal Article
LanguageEnglish
Published Switzerland 1992
Subjects
Female
Genetic Linkage
Genetic Markers
Genetic Predisposition to Disease
Humans
Male
Optic Atrophies, Hereditary - genetics
Pedigree
Polymorphism, Restriction Fragment Length
X Chromosome
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Summary: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).
ISSN:0001-5652
DOI:10.1159/000154089