Scholars@Duke publication: Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes.

Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes.

Publication , Journal Article

West, AB; Zimprich, A; Lockhart, PJ; Farrer, M; Singleton, A; Holtom, B; Lincoln, S; Hofer, A; Hill, L; Müller-Myhsok, B; Wszolek, ZK ...

Published in: Eur J Hum Genet

September 2001

Published version (DOI) Link to item

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 common haplotype 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.

Duke Scholars

Author Andrew Bradley West Pharmacology & Cancer Biology

Published In

Eur J Hum Genet

DOI

10.1038/sj.ejhg.5200698

ISSN

1018-4813

Publication Date

September 2001

Volume

Issue

Start / End Page

659 / 666

Location

England

Related Subject Headings

alpha-Glucosidases
Transcription Factors
T-Cell Intracellular Antigen-1
Sequence Analysis, DNA
Receptors, Retinoic Acid
RNA-Binding Proteins
Proteins
Protein Tyrosine Phosphatases
Poly(A)-Binding Proteins
Phosphoproteins

Citation

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West, A. B., Zimprich, A., Lockhart, P. J., Farrer, M., Singleton, A., Holtom, B., … Gasser, T. (2001). Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. Eur J Hum Genet, 9(9), 659–666. https://doi.org/10.1038/sj.ejhg.5200698

West, A. B., A. Zimprich, P. J. Lockhart, M. Farrer, A. Singleton, B. Holtom, S. Lincoln, et al. “Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes.” Eur J Hum Genet 9, no. 9 (September 2001): 659–66. https://doi.org/10.1038/sj.ejhg.5200698.

West AB, Zimprich A, Lockhart PJ, Farrer M, Singleton A, Holtom B, et al. Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. Eur J Hum Genet. 2001 Sep;9(9):659–66.

West, A. B., et al. “Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes.” Eur J Hum Genet, vol. 9, no. 9, Sept. 2001, pp. 659–66. Pubmed, doi:10.1038/sj.ejhg.5200698.

West AB, Zimprich A, Lockhart PJ, Farrer M, Singleton A, Holtom B, Lincoln S, Hofer A, Hill L, Müller-Myhsok B, Wszolek ZK, Hardy J, Gasser T. Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. Eur J Hum Genet. 2001 Sep;9(9):659–666.

Published In

Eur J Hum Genet

DOI

10.1038/sj.ejhg.5200698

ISSN

1018-4813

Publication Date

September 2001

Volume

Issue

Start / End Page

659 / 666

Location

England

Related Subject Headings

alpha-Glucosidases
Transcription Factors
T-Cell Intracellular Antigen-1
Sequence Analysis, DNA
Receptors, Retinoic Acid
RNA-Binding Proteins
Proteins
Protein Tyrosine Phosphatases
Poly(A)-Binding Proteins
Phosphoproteins