[Study on exons 3 and 4 of alpha-synuclein gene in Chinese familial Parkinson disease patients].
OBJECTIVE
To study the relationship of Chinese familial Parkinson disease with alpha-synuclein gene.


METHODS
Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and polymerase chain reaction-heteroduplex analysis(PCR-HA) were employed to detect the abnormal mobilization in the familial Parkinson disease and sporadic Parkinson disease patients, then it was verified by gene sequencing.


RESULTS
No mutation was found in alpha-synuclein gene exons 3 and 4 by PCR-SSCP together with PCR-HA. An inserted c and an inserted t were found in intron 4, position 23 and position 67 respectively.


CONCLUSIONS
(1) Exons 3 and 4 of alpha-synuclein gene are not the mutational hot spots of Chinese familial Parkinson disease. (2) Two polymorphisms were found in intron 4 of alpha-synuclein gene. They are 23 ins c and 67 ins t.
Chen
Xi
X
Department of Neurology, the First Affiliated Hospital, San Yat-sen University, Guangzhu, Guangdong, 510080 PR China. chenxi73@163.com
Liu
Yue-ting
YT
Li
Jin-ru
JR
Chen
Ling
L
Xu
Yan-ming
YM
Pan
Yong-hui
YH
Meng
Xiao-hong
XH
Xing
Shi-hui
SH
D000328:Adult; D000368:Aged; D005091:Exons; D005260:Female; D020180:Heteroduplex Analysis; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D051843:Synucleins; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein