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Titolo:
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
Autore:
West, AB; Zimprich, A; Lockhart, PJ; Farrer, M; Singleton, A; Holtom, B; Lincoln, S; Hofer, A; Hill, L; Muller-Myhsok, B; Wszolek, ZK; Hardy, J; Gasser, T;
Indirizzi:
Klinikum Grosshadern, Neurol Forschungshaus, D-81366 Munich, Germany Klinikum Grosshadern Munich Germany D-81366 aus, D-81366 Munich, Germany Mayo Clin Jacksonville, Jacksonville, FL 32224 USA Mayo Clin JacksonvilleJacksonville FL USA 32224 cksonville, FL 32224 USA Bernhard Nocht Inst Trop Med, Hamburg, Germany Bernhard Nocht Inst Trop Med Hamburg Germany Trop Med, Hamburg, Germany
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 9, volume: 9, anno: 2001,
pagine: 659 - 666
SICI:
1018-4813(200109)9:9<659:ROTPLO>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
PARKINSONS-DISEASE; ALPHA-SYNUCLEIN; PROTEIN; CLONING; FAMILY; DNA; LOCALIZATION; INHERITANCE; EXPRESSION; DEMENTIA;
Keywords:
PARK3; Parkinson's disease; chromosome 2p13; genetic and physical mapping;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
47
Recensione:
Indirizzi per estratti:
Indirizzo: Gasser, T Klinikum Grosshadern, Neurol Forschungshaus, Marchioninistr 23, D-81366 Munich, Germany Klinikum Grosshadern Marchioninistr 23 Munich Germany D-81366 y
Citazione:
A.B. West et al., "Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes", EUR J HUM G, 9(9), 2001, pp. 659-666

Abstract

Parkinson's disease (PD) is a common neurodegenerative disorder with clinical features of bradykinesia, rigidity, resting tremor and postural instability resulting from the deficiency of dopamine in the nigrostriatal system. Previously we mapped a susceptibility gene for an autosomal dominant form of PD to a 10.6 cM region of chromosome 2p (PARK3; OMIM 602404). A common haplotype shared by two North American kindreds (Families B and C) genealogically traced to Southern Denmark and Northern Germany suggested a founder effect. Here we report progress in the refinement of the PARK3 locus and sequence analysis of candidate genes within the region. Members of families B and C were genotyped using polymorphic markers, reducing the minimum commonhaplotype to eight markers spanning a physical distance of 2.5 Mb. Analysis of 14 genes within the region did not reveal any potentially pathogenic mutations segregating with the disease, implying that none of these genes are likely candidates for PARK3.

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Documento generato il 05/07/20 alle ore 15:39:38