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Titolo:
A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia
Autore:
Pineda-Trujillo, NL; Carvajal-Carmona, LG; Buritica, O; Moreno, S; Uribe, C; Pineda, D; Toro, M; Garcia, F; Arias, W; Bedoya, G; Lopera, F; Ruiz-Lineares, A;
Indirizzi:
Univ Antioquia, Fac Med, Genet Mol Lab, Medellin 1226, Colombia Univ Antioquia Medellin Colombia 1226 t Mol Lab, Medellin 1226, Colombia Univ London Univ Coll, Galton Lab, Dept Biol, London NW1 2HE, England UnivLondon Univ Coll London England NW1 2HE ol, London NW1 2HE, England Univ Antioquia, Fac Med, Serv Neurol Clin, Program Neurosci, Medellin 1226, Colombia Univ Antioquia Medellin Colombia 1226 Neurosci, Medellin 1226, Colombia
Titolo Testata:
NEUROSCIENCE LETTERS
fascicolo: 2, volume: 298, anno: 2001,
pagine: 87 - 90
SICI:
0304-3940(20010202)298:2<87:ANCFMI>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
POINT MUTATIONS; DISEASE; GENE; ONSET; ASSOCIATION;
Keywords:
Parkinsonism; parkin; founder effect; genetic isolates;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Ruiz-Lineares, A Univ Antioquia, Fac Med, Genet Mol Lab, Medellin 1226, Colombia Univ Antioquia Medellin Colombia 1226 in 1226, Colombia
Citazione:
N.L. Pineda-Trujillo et al., "A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia", NEUROSCI L, 298(2), 2001, pp. 87-90

Abstract

We report the molecular characterization of three multiplex families and asporadic case of juvenile Parkinsonism identified in the province of Antioquia (Colombia). Linkage and haplotype analysis using markers in 6q25.2-27 indicated that Parkinsonism in the pedigrees is linked to the parkin gene (maximum LOD-score of 3.85) but that they carry two different mutant haplotypes. Sequence analysis revealed a novel G to A transition in exon 6 at position 736 (G736A) of parkin. This change results in a non-conservative cysteine for tyrosine substitution. All affected individuals from two families were homozygous for this mutation, which was not detected in 100 normal controls. Patients from the family carrying the second haplotype and the sporadic case were homozygous for a GT insertion in exon 3. This mutation has been previously identified in French families with juvenile Parkinsonism. The concomitant presence of founder effects and allelic heterogeneity in Antioquia might relate to the founding admixture at the origin of this population. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/06/19 alle ore 17:00:04