The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis.
A number of mitochondrial (mt) point mutations have been associated with inherited disorders. These pathogenic mutations are usually heteroplasmic. Here we describe the identification of three heteroplasmic mtDNA point mutations using the techniques of single stranded conformation polymorphism (SSCP) and heteroduplex analysis.
Thomas
A W
AW
Department of Medicine, University of Wales College of Medicine, Health Park, Cardiff, UK.
Morgan
R
R
Sweeney
M
M
Rees
A
A
Alcolado
J
J
D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012356:RNA, Transfer, Leu / Q000235:genetics
D004272:DNA, Mitochondrial; D009692:Nucleic Acid Heteroduplexes; D012356:RNA, Transfer, Leu