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Titolo:
RAPID AND NONINVASIVE SCREENING OF PATIENTS WITH MITOCHONDRIAL MYOPATHY
Autore:
KOTSIMBOS N; JEANFRANCOIS MJB; HUIZING M; KAPSA RMI; LERTRIT P; SIREGAR NC; MARZUKI S; SUE C; BYRNE E;
Indirizzi:
ST VINCENTS HOSP,MELBOURNE NEUROMUSCULAR RES CTR FITZROY VIC 3065 AUSTRALIA ST VINCENTS HOSP,MELBOURNE NEUROMUSCULAR RES CTR FITZROY VIC 3065 AUSTRALIA WESTMEAD & PARRAMATTA HOSP,DEPT NEUROL WESTMEAD NSW 2145 AUSTRALIA
Titolo Testata:
Human mutation
fascicolo: 2, volume: 4, anno: 1994,
pagine: 132 - 135
SICI:
1059-7794(1994)4:2<132:RANSOP>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY OPTIC NEUROPATHY; TRANSFER RNALYS MUTATION; MYOCLONIC EPILEPSY; LACTIC-ACIDOSIS; EPISODES MELAS; COMPLEX-I; DNA; MTDNA; MERRF; ENCEPHALOPATHY;
Keywords:
MITOCHONDRIAL MYOPATHY; SCREENING; MERRF; MELAS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
15
Recensione:
Indirizzi per estratti:
Citazione:
N. Kotsimbos et al., "RAPID AND NONINVASIVE SCREENING OF PATIENTS WITH MITOCHONDRIAL MYOPATHY", Human mutation, 4(2), 1994, pp. 132-135

Abstract

In recent years, several point mutations in the mitochondrial genome have been associated with human disease. PCR Polymerase Chain Reaction/restriction endonuclease based techniques provide a reliable method for screening large numbers of specimens for many of the reported mutations. Muscle tissue usually carries the mutations and has been used inearlier studies. We describe a technique for analysis of mtDNA derived from hair follicles for a range of mutations. Both the 3243 A-->G MELAS and 8344 A-->G MERRF mutations were detected in mtDNA from hair follicles, In patients where both muscle and hair were screened, the mutation load was apparently higher in muscle. Furthermore, in patients positive for a given mutation, all the hair follicles analysed were shown to harbour the mutation, although the proportion of wild type to mutant mtDNA was found to somewhat vary. The advantages of this method are (1: six hair follicles provide sufficient mtDNA for analysis of at least 20 different mutations, and (2: specimen collection and transport to a central laboratory are easier than for other tissues. Our studies show that hair follicles constitute a reliable specimen for mitochondrial mutation screening at a diagnostic level. (C) 1994 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/07/20 alle ore 20:38:52