CARVALHO, MRS and MULLER, B and ROTZER, E and BERNINGER, T and KOMMERELL, G and BLANKENAGEL, A and SAVONTAUS, ML and MEITINGER, T and LORENZ, B (1992) LEBERS HEREDITARY OPTIC NEURORETINOPATHY AND THE X-CHROMOSOMAL SUSCEPTIBILITY FACTOR - NO LINKAGE TO DXS7. HUMAN HEREDITY, 42 (5). pp. 316-320. ISSN 0001-5652, 1423-0062
Full text not available from this repository.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).
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GENETIC-HETEROGENEITY; DNA; NEUROPATHY; MUTATION; POLYMORPHISMS; LEBERS HEREDITARY OPTIC NEURORETINOPATHY; LHON; X-CHROMOSOME; OPTIC ATROPHY; DXS7; DXS426; OTC; SUSCEPTIBILITY GENE; MITOCHONDRIAL DISEASE |
| Depositing User: | Dr. Gernot Deinzer |
| Last Modified: | 19 Oct 2022 08:44 |
| URI: | https://pred.uni-regensburg.de/id/eprint/54404 |
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