Identification of point mutations by mispairing PCR as exemplified in MERRF disease
作者： Peter Seibel , Françoise Degoul , Norma Romero , Cécile Marsac , Bernhard Kadenbach
DOI: 10.1016/S0006-291X(05)80071-3
关键词: Point mutation 、 DNA 、 Polymerase chain reaction 、 Mitochondrial DNA 、 Biology 、 Restriction enzyme 、 Genetics 、 Primer (molecular biology) 、 Restriction site 、 Gene 、 Molecular biology
摘要: Summary The point mutation in the tRNA Lye gene of mitochondrial DNA (mtDNA) from patients with myoclonic epilepsy and ragged red fibers (MERRF) was quantitatively analyzed after digestion restriction endonuclease Nae I PCR amplified DNA. Since is not part a site for commonly available endonuclease, introduced by using mispairing primer. percentage mutated mtDNA determined few hairs five members an affected family counting radioactivity fragments amplification labelled dATP.
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