Article
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.
American journal of human genetics - 1 May 1997
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R
Abstract excerpt
mtDNAs from 37 Italian subjects affected by Leber hereditary optic neuropathy (LHON) (28 were 11778 positive, 7 were 3460 positive, and 2 were 14484 positive) and from 99 Italian controls were screened for most of the mutations that currently are associated with LHON. High-resolution restriction-...
Topics
- DNA Primers
- DNA, Mitochondrial
- Gene Frequency
- Genetic Testing
- Haplotypes
- Humans
- Italy
- Mutation
- Optic Atrophies, Hereditary
- Phylogeny
- Polymerase Chain Reaction
- Polymorphism, Genetic
- White People