Article
Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis.
American journal of human genetics - 1 Feb 2007
Zsurka Gábor, Hampel Kevin G, Kudina Tatiana, Kornblum Cornelia, Kraytsberg Yevgenia, Elger Christian E, Khrapko Konstantin, Kunz Wolfram S
Abstract excerpt
Recently, somatic recombination of human mitochondrial DNA (mtDNA) was discovered in skeletal muscle. To determine whether recombinant mtDNA molecules can be transmitted through the germ line, we investigated two families, each harboring two inherited heteroplasmic mtDNA mutations. Using allele-specific polymerase chain reaction and single-cell and single-molecule mutational analyses, we discovered, in both...
Topics
- Adolescent
- Adult
- Child
- DNA, Mitochondrial
- DNA, Recombinant
- Extrachromosomal Inheritance
- Female
- Humans
- MELAS Syndrome
- MERRF Syndrome
- Male
- Molecular Sequence Data
- Mutation