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Titolo:
QUANTITATION OF HETEROPLASMY OF MITOCHONDRIAL TRNA(LEU(UUR)) GENE USING PCR-SSCP
Autore:
TANNO Y; YONEDA M; TANAKA K; TANAKA H; YAMAZAKI M; NISHIZAWA M; WAKABAYASHI K; OHAMA E; TSUJI S;
Indirizzi:
NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,ASAHIMACHI 1 NIIGATA 951 JAPAN NIIGATA KOBARI HOSP,DEPT NEUROL NIIGATA 951 JAPAN NAGOYA UNIV,FAC MED,DEPT BIOMED CHEM NAGOYA AICHI 466 JAPAN NIIGATA SHIMIN HOSP,DEPT NEUROL NIIGATA 951 JAPAN JICHI MED SCH,DEPT NEUROL MINAMI KAWACHI TOCHIGI 32904 JAPAN NIIGATA UNIV,BRAIN RES INST,DEPT PATHOL NIIGATA 951 JAPAN TOTTORI UNIV,FAC MED,INST NEUROL SCI,DIV NEUROPATHOL YONAGO TOTTORI 683 JAPAN
Titolo Testata:
Muscle & nerve
fascicolo: 12, volume: 18, anno: 1995,
pagine: 1390 - 1397
SICI:
0148-639X(1995)18:12<1390:QOHOMT>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
LACTIC-ACIDOSIS; EPISODES MELAS; DNA MUTATION; TRANSFER RNALEU(UUR); CLINICAL-FEATURES; TRANSFER RNALYS; ENCEPHALOMYOPATHY; MYOPATHY; TISSUES; MUSCLE;
Keywords:
QUANTITATION; HETEROPLASMY; TRNA(LEU(UUR)); MELAS; AUTOPSIED TISSUES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
27
Recensione:
Indirizzi per estratti:
Citazione:
Y. Tanno et al., "QUANTITATION OF HETEROPLASMY OF MITOCHONDRIAL TRNA(LEU(UUR)) GENE USING PCR-SSCP", Muscle & nerve, 18(12), 1995, pp. 1390-1397

Abstract

We have devised a novel method for quantitative analysis of the MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) tRNA(Leu(UUR)) mutation of mitochondrial DNA using a PCR-SSCP (polymerase chain reaction-single-strand conformation polymorphism) method, and compared the results obtained using the PCR-SSCP method with those obtained using other methods including Southern blotting, last one cycle hot PCR, and conventional PCR-RFLP (restriction fragment length polymorphism). The standard curve obtained using the PCR-SSCP method is linear, with a correlation coefficient of 0.999; it was determined that this method is more accurate than other methods for quantitative analysis, The PCR-SSCP method does not require restriction digestions, thereby avoiding potential problems of partial digestions or heteroduplex formation during PCR, The method is quite simple and should have a broad range of application for quantitation of mutant mtDNAs in various mitochondrial encephalomyopathies. We applied the methodfor quantitation of mutant mitochondrial DNA carrying a single base substitution in the tRNA(Leu(UUR)) gene in two autopsied cases of MELAS, In both cases, the mutant mtDNA is abundantly present (82-95%) with little variation among tissues. (C) 1995 John Wiley & Sons, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 18:59:50