| Autor: |
Handoko, H Y, Wirapati, P J, Sudoyo, H A, Sitepu, M, Marzuki, S |
| Zdroj: |
Journal of Medical Genetics; Aug1998, Vol. 35 Issue 8, p668-671, 4p, 1 Diagram, 1 Chart |
| Abstrakt: |
Leber's hereditary optic neuropathy (LHON) is a maternally inherited degenerative disorder characterised by an acute or subacute optic nerve degeneration resulting in visual failure. Mitochondrial DNA mutations have been reported and a nuclear modifier gene(s) on the X chromosome is thought to play an important role in the onset of this disorder. We analysed a LHON family with a novel and more accurate approach using 27 X chromosomal microsatellite markers. Meiotic breakpoint mapping and two point lod score did not point to any particular area on the X chromosome which might contain the X susceptibility locus. [ABSTRACT FROM PUBLISHER] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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