Article
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Bykhovskaya Y, Yang H, Taylor K, Hang T, Tun R Y, Estivill X, Casano R A, Majamaa K, Shohat M, Fischel-Ghodsian N
Abstract excerpt
PURPOSE: To examine the role of the nuclear genome in affecting the phenotypic expression of the simplest model of a mitochondrial DNA disease, maternally transmitted deafness. METHODS: Linkage analysis in families with maternally inherited deafness associated with the homoplasmic A1555G mutation. RESULTS: Significant linkage and linkage disequilibrium on chromosome 8 was identified. CONCLUSIONS: This finding...
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