title: The polymerase chain reaction in the study of mitochondrial genetics.
abstract: Since its development in the late 1980's, the polymerase chain reaction (PCR) has revolutionised molecular genetic studies. It has provided direct access to genetic material in quantities sufficient for meaningful analyses to be performed. Adaptations to the basic technique have resulted in a wide range of applications from basic gene amplification to the estimation of DNA species quantities within cells. The study of human mitochondrial genetics is but one of the many disciplines to benefit from the rapid ascension of PCR based technology. In this communication we outline several uses of the PCR technique in the detection, quantification and characterisation of human mitochondrial genetic defects. The data presented in this communication highlight the versatility and applicability of PCR not only to mitochondrial research but to other disciplines of medical research.
authors.affiliation: Melbourne Neuromuscular Research Centre, Department of Clinical Neurosciences, St Vincent's Hospital, Fitzroy, Victoria, Australia.
authors.forename: R
authors.initials: R
authors.lastname: Kapsa
authors.forename: N
authors.initials: N
authors.lastname: Siregar
authors.forename: A
authors.initials: A
authors.lastname: Quigley
authors.forename: J
authors.initials: J
authors.lastname: Ojaimi
authors.forename: S
authors.initials: S
authors.lastname: Katsabanis
authors.forename: C
authors.initials: C
authors.lastname: Sue
authors.forename: E
authors.initials: E
authors.lastname: Byrne
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics; D008928:Mitochondria / Q000737:chemistry; D008931:Mitochondria, Muscle / Q000737:chemistry; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000235:genetics; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000737:chemistry; D015418:Optic Atrophies, Hereditary / Q000235:genetics; D010920:Placenta / Q000737:chemistry; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial