PINK1基因T313M多态性与新疆维吾尔族帕金森病的关系研究

摘要

Objective To observe the association between the polymorphism of PINK1 gene exon 4 T313M and Parkinson's disease ( PD) in Xinjiang Uygurs.Methods The genetic DNA was extracted from 175 Uygur patients with PD (PD group) and 163 Uygur healthy controls (control group).The PINK1 gene exon 4 T313M was amplified by PCR.The genotype and allele were determined by restriction enzymes enzyme technology, and then validated by sequencing analysis.Results The frequency of PINK1 gene T313M T/T genotype in PD group was 2.9%, which of C/C genotype was 97.1%;the frequency of PINK1 gene T313M T allele in PD group was 2.9%, which of C allele was 97.1%.The frequency of PINK1 gene T313M T/T genotype in control group was 1.2%, which of C/C genotype was 98.8%;the frequency of PINK1 gene T313M T allele in control group was 1.2%, which of C allele was 98.8%. The difference of the polymorphism of PINK1 gene T313M between the two groups had no statistical significance ( P>0.05).Conclusion The polymorphism of PINK1 gene exon 4 T313M has nothing to do with the genetic susceptibility of Xinjiang Uighur PD patients.%目的：探讨PINK1基因第4外显子T313M的多态性与新疆维吾尔族（维族）帕金森病（ PD）的关系。方法对175例维族原发性PD患者（ PD组）及163例维族健康体检者（对照组）提取基因组DNA，采用PCR扩增所需PINK1基因第4外显子T313M基因片段，用限制性内切酶酶切技术测定其基因型和等位基因，再进行测序分析验证。结果 PD组PINK1基因T313M的T／T基因型频率为2．9％， C／C基因型频率为97．1％， T等位基因频率为2．9％， C等位基因频率为97．1％；对照组PINK1基因T313M的T／T基因型频率为1．2％， C／C基因型频率为98．8％， T等位基因频率为1．2％， C等位基因频率为98．8％。两组间PINK1基因T313M多态性的比较差异无统计学意义（P＞0．05）。结论 PINK1基因第4外显子T313M多态性与新疆维族PD患者的遗传易感性无关。