[Association of the ubiquitin carboxy-terminal hydrolase-L1 genetic polymorphism with the susceptibility of Parkinson's disease].
OBJECTIVE
To study the association of two polymorphisms of ubiquitin carboxy-terminal hydrolase-L1 gene(UCH-L1), the 54C/A in exon 3 and the 277C/G in exon 4, with sporadic Parkinson's disease(PD) in Hans from North China.


METHODS
Polymerase chain reaction-restriction fragment length polymorphism was used to investigate the genotype and allele frequencies of the UCH-L1 C/A and C/G loci, in a case-control study including 75 sporadic PD and 100 randomly selected healthy control subjects.


RESULTS
(1)There was significant difference between PD patients and controls in the frequencies of UCH-L1 genotype and C/A allele(P<0.05). The frequencies of allele A and genotype AA were both significantly lower in PD patients than that in the controls(P<0.05).(2)There was no polymorphism in the UCH-L1 C/G locus in all cases and controls.


CONCLUSIONS
(1)There might be association between the polymorphisms of UCH-L1 C/A locus and sporadic PD in Han population from North China.(2)There is no polymorphism in the UCH-L1 C/G locus in Hans from this region.
Department of Neurology, the General Hospital of Tianjin Medical University, Tianjin 300052, P.R. China. xxy.jun@ eyou.com
Ying
Y
Xiao
Benshu
B
Zhang
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D005006:Ethnicity / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D011110:Polymorphism, Genetic; D043222:Ubiquitin Thiolesterase / Q000235:genetics*
C482860:UCHL1 protein, human; D043222:Ubiquitin Thiolesterase