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Although the role of genetic factors in the origin of Parkinson disease has long been disputed, several genes involved in autosomal dominant and recessive forms of the disease have been localized. Mutations associated with early-onset autosomal recessive parkinsonism have been identified in the Parkin gene, and recently a second gene, PARK6, involved in early-onset recessive parkinsonism was localized on chromosome 1p35-36. We identified a family segregating early-onset parkinsonism with multiple consanguinity loops in a genetically isolated population. Homozygosity mapping resulted in significant evidence for linkage on chromosome 1p36. Multipoint linkage analysis using MAPMAKER-HOMOZ generated a maximum LOD-score of 4.3, with nine markers spanning a disease haplotype of 16 cM. On the basis of several recombination events, the region defining the disease haplotype can be clearly separated, by > or =25 cM, from the more centromeric PARK6 locus on chromosome 1p35-36. Therefore, we conclude that we have identified on chromosome 1 a second locus, PARK7, involved in autosomal recessive, early-onset parkinsonism.

Original publication

DOI

10.1086/322996

Type

Journal article

Journal

American journal of human genetics

Publication Date

09/2001

Volume

69

Pages

629 - 634

Addresses

Genetic-Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Center Rotterdam, 3000 DR Rotterdam, The Netherlands.

Keywords

Chromosomes, Human, Pair 1, Humans, Parkinsonian Disorders, Ligases, Ubiquitin-Protein Ligases, Chromosome Mapping, Pedigree, Age of Onset, Molecular Sequence Data, Female, Male