The analysis of polymorphism on PINK1 gene of exon 5 in 50 patients with Parkinson disease / 重庆医学

ABSTRACT

Objective To study polymorphism of phosphatase and tensinhomologue (PTEN)-induced kinase 1(PINK1) gene of exon 5 in Parkinson patients who located in Guangxi ,and its relationship with Parkinson disease (PD) .Methods PCR ,single strand conformation polymorphism (SSCP) and sequencing analyze were conducted to analyze the PINK 1 gene′s exon 5 polymorphism in 28 cases of early-onset PD patients ,22 cases of late-onset PD patients(early-onset PD patients + late-onset PD patients = PD group) and 55 of control group .Results The intronic intervening sequence 5-5G-A (IVS5-5G-A ) polymorphism and G12164A polymer-phism which were located on PINK1 gene of exon 5 were chain relation .The G/A ,A /A genotype frequency was significantly higher in PD group (42 .0% ) than that in control group (23 .6% ) (χ2 = 4 .034 ,P= 0 .045) .The frequency was also significantly higher in late-onset PD patients (45 .5% )than that of 38 cases who were older than 50 years old in control group(21 .1% )(χ2 = 3 .951 ,P=0 .047) .There were no significant differences in alleles .Conclusion This research suggests that chain relation polymerphism at IVS5-5G-A and G12164A in PINK1 gene may be a susceptible factor for PD patients in Guangxi .