A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia

被引：44

作者：

Pineda-Trujillo, NL

Carvajal-Carmona, LG

Buriticá, O

Moreno, S

Uribe, C

Pineda, D

Toro, M

García, F

Arias, W

Bedoya, G

Lopera, F

Ruiz-Lineares, A ^{[1
]}

机构：

[1] Univ Antioquia, Fac Med, Genet Mol Lab, Medellin 1226, Colombia

[2] UCL, Galton Lab, Dept Biol, London NW1 2HE, England

[3] Univ Antioquia, Fac Med, Serv Neurol Clin, Program Neurosci, Medellin 1226, Colombia

来源：

NEUROSCIENCE LETTERS | 2001年 / 298卷 / 02期

关键词：

Parkinsonism; parkin; founder effect; genetic isolates;

D O I：

10.1016/S0304-3940(00)01733-X

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

We report the molecular characterization of three multiplex families and a sporadic 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.

引用

页码：87 / 90

页数：4

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