Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from northern Germany.
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.
Klein
C
C
Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, USA.
Vieregge
P
P
Hagenah
J
J
Sieberer
M
M
Doyle
E
E
Jacobs
H
H
Gasser
T
T
Breakefield
X O
XO
Risch
N J
NJ
Ozelius
L J
LJ
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency; D005799:Genes, Dominant; D005858:Germany; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics*; D017354:Point Mutation; D051843:Synucleins; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein