Association of the ubiquitin carboxy-terminal hydrolase-L1 genetic polymorphism with the susceptibility of Parkinson's disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>(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.</p><p><b>CONCLUSION</b>(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.</p>