Mutation, sequence analysis, and association studies of alpha-synuclein in Parkinson's disease.
A mutation within the alpha-synuclein gene on human chromosome 4 has been reported to segregate with PD in an Italian family. We screened a sample of familial cases of PD for mutation in the alpha-synuclein gene. None of the familial cases of PD carried a mutation within the alpha-synuclein gene, and no association was detected between PD and alleles of a dinucleotide repeat marker within the alpha-synuclein gene. We conclude that variation within the alpha-synuclein gene does not play a significant role in the risk for PD in our sample.
Parsian
A
A
Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Racette
B
B
Zhang
Z H
ZH
Chakraverty
S
S
Rundle
M
M
Goate
A
A
Perlmutter
J S
JS
D000368:Aged; D000483:Alleles; D002894:Chromosomes, Human, Pair 4; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics; D017354:Point Mutation; D011110:Polymorphism, Genetic; D051843:Synucleins; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; D010750:Phosphoproteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein