PINK1基因T313M多态性与新疆维吾尔族帕金森病的关系研究

Study of association between the polymorphism of PINK1 gene T313M and Parkinson's disease in Xinjiang Uygurs

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。

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.