Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from northern Germany

Ann Hum Genet. 1999 Jul;63(Pt 4):285-91. doi: 10.1046/j.1469-1809.1999.6340285.x.

Abstract

A founder haplotype on chromosome 2p for autosomal dominant Parkinson's disease (PD) has been postulated for two families of Northern European descent, and a new mutation in the alpha-synuclein gene (Ala30Pro) has been found in a German PD family. We evaluated 85 German PD patients and 85 ethnically matched controls for shared markers on chromosome 2p and for the new alpha-synuclein mutation. We found no evidence for linkage disequilibrium, suggesting that the putative founder mutation on chromosome 2p is not a common cause of PD in the local population. Furthermore, no patient carried the Ala30Pro change, supporting earlier findings that mutations in the alpha-synuclein gene are extremely rare.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alleles
  • Case-Control Studies
  • Chromosomes, Human, Pair 2 / genetics
  • Cohort Studies
  • Female
  • Founder Effect*
  • Gene Frequency
  • Genes, Dominant
  • Germany
  • Haplotypes*
  • Humans
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics
  • Parkinson Disease / genetics*
  • Point Mutation
  • Synucleins
  • alpha-Synuclein

Substances

  • Nerve Tissue Proteins
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein