Mitochondrial DNA mutations in Japanese detected by polymerase chain reaction—restriction fragment—single strand conformation polymorphism analysis

Abstract

PCR—restriction fragment—SSCP (PCR—RF—SSCP) analysis of mitochondrial DNA by HhaI/HincII in Japanese revealed 46 polymorphic patterns. The determinations of nucleotide sequence of these 46 patterns revealed 56 mutations compared with the Cambridge Sequence.