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Titolo:
PCR-BASED STRATEGY FOR THE DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES AND CHARCOT-MARIE-TOOTH-DISEASE TYPE 1A
Autore:
YOUNG P; STOGBAUER F; WIEBUSCH H; LOFGREN A; TIMMERMAN V; VANBROECKHOVEN C; RINGELSTEIN EB; ASSMANN G; FUNKE H;
Indirizzi:
UNIV MUNSTER,NEUROL KLIN & POLIKLIN D-48129 MUNSTER GERMANY UNIV MUNSTER,INST ARTERIOSKLEROSEFORSCH D-4400 MUNSTER GERMANY UNIV MUNSTER,INST KLIN CHEM & LAB MED,ZENT LAB D-4400 MUNSTER GERMANY UNIV INSTELLING ANTWERP,BORN BUNGE FDN,FLANDERS INTERUNIV INST BIOTECHNOL,NEUROGENET LAB ANTWERP BELGIUM
Titolo Testata:
Neurology
fascicolo: 3, volume: 50, anno: 1998,
pagine: 760 - 763
SICI:
0028-3878(1998)50:3<760:PSFTDO>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
PMP22 GENE; MUTATION; DUPLICATION; LINKAGE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
23
Recensione:
Indirizzi per estratti:
Citazione:
P. Young et al., "PCR-BASED STRATEGY FOR THE DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES AND CHARCOT-MARIE-TOOTH-DISEASE TYPE 1A", Neurology, 50(3), 1998, pp. 760-763

Abstract

Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathywith liability to pressure palsies (HNPP) are inherited peripheral neuropathies. In most cases these disorders are caused by either the duplication (in CMT1A) or the deletion (in HNPP) of a 1.5-megabase DNA fragment on chromosome 17p11.2, which contains the peripheral myelin protein 22 gene (PMP22). We developed a rapid and simple quantitative PCRassay for the detection of the CMT1A duplication or the HNPP deletion. The assay is based on the quantitative determination of the copy number of a 240-base pair DNA fragment from exon 4 of the PMP22 gene. Quantification was done on an automated fluorescence sequencer. Using this method we analyzed four families with the HNPP phenotype. In these families we identified the deletion in all affected individuals. To test the validity of the method, we compared the quantitative PCR resultsfrom 50 DNA samples, including 15 samples from individuals with HNPP,15 samples from CMT1A patients, and 20 from normal controls, with theresults obtained by Southern blot analysis. Concordant results were obtained in 49 of the 50 cases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/01/21 alle ore 16:51:35