Discrimination of A1555G and C1494T Point Mutations in the Mitochondrial 12S rRNA Gene by On/Off Switch

• Published in: Applied biochemistry and biotechnology Vol. 166; no. 1; pp. 234 - 242
• Main Authors: Guo, Zi-Fen, Guo, Wu-Shuang, Xiao, Li, Gao, Guo-Qiang, Lan, Fen, Lu, Xue-Guan, Li, Kai, Liao, Duan-Fang
• Format: Journal Article
• Language: English
• Published: New York Humana Press Inc 01.01.2012; Springer; Springer Nature B.V
• Subjects: Alleles; aminoglycoside antibiotics; Antibiotics; Base Sequence; Biochemistry; Biological and medical sciences; Biotechnology; Chemistry; Chemistry and Materials Science; deafness; Deafness - genetics; Deoxyribonucleases, Type II Site-Specific; Deoxyribonucleases, Type II Site-Specific - metabolism; DNA, Mitochondrial; DNA, Mitochondrial - genetics; DNA-Directed DNA Polymerase; DNA-Directed DNA Polymerase - chemistry; E coli; Enzymes; Escherichia coli; Escherichia coli - genetics; Fundamental and applied biological sciences. Psychology; Genetics; hearing; Hearing Loss; Hearing Loss - genetics; Humans; metabolism; methods; Mitochondria; Mitochondria - genetics; Mitochondrial DNA; Molecular Sequence Data; mutagenesis; Mutation; patients; Pharmacology; point mutation; Point Mutation - genetics; polymerase chain reaction; Polymerase Chain Reaction - methods; Ribonucleic acid; ribosomal RNA; RNA; RNA, Ribosomal; RNA, Ribosomal - genetics; sequence analysis; Sequence Analysis, DNA; Transformation, Genetic; volunteers; Aminoglycoside antibiotics; Mitochondrial 12S rRNA; Exo; polymerase; Phosphorothioate modification; Antibiotic; Gene; Ribosomal RNA; Aminoglycoside; Point mutation

The objective of this study was to apply the “on/off” switch consisting of 3′ phosphorothioate-modified allele specific primers and exo + polymerase in single base discrimination of A1555G and C1494T mutations in the highly conserved sites of the mitochondrial 12S rRNA. The two point mutations are t...