Article
The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.
Human genetics - 1 Oct 1993
Huoponen K, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus M L
Abstract excerpt
The mitochondrial complex I genes were sequenced in seven Leber hereditary optic neuroretinopathy (LHON) families without the ND4/11,778 and ND1/3460 mutations. Four replacement mutations restricted only to LHON families were found, one in the ND1 gene at nt 4025, and three in the ND5 gene at nt 12,811, 13,637, and 13,967. The mutations did not change evolutionarily conserved amino acids suggesting that they are...
Topics
- Amino Acids
- Base Sequence
- DNA
- DNA Mutational Analysis
- DNA, Mitochondrial
- Humans
- Mutation
- Optic Atrophies, Hereditary
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length