50例帕金森病PINK1基因5号外显子的多态性分析

The analysis of polymorphism on PINK1 gene of exon 5 in 50 patients with Parkinson disease

目的探讨广西地区帕金森病(PD)的同源性磷酸酶张力蛋白诱导的激酶1(PINK1)基因5号外显子的多态性分布特征,及其与PD的关系。方法应用聚合酶链反应(PCR)、单链构象多态性分析(SSCP)、DNA直接测序等技术对广西地区28例早发PD组患者、22例晚发PD组患者(早发PD组+晚发PD组为PD组)及55名健康对照组的PINK1基因5号外显子的多态性进行分析。结果 PINK1基因5号外显子G12164A、IVS5-5G-A(内含子上游调控区5-5G-A)连锁多态,统计结果显示PD组基因型G/A、A/A(42.0%)与对照组(23.6%)相比有升高趋势(χ2=4.034,P=0.045),晚发PD组基因型G/A、A/A(45.5%)与对照组中38名年龄大于50岁的健康人(21.1%)相比有升高趋势(χ2=3.951,P=0.047),各组之间的等位基因频率比较差异无统计学意义(P>0.05)。结论 G12164A、IVS5-5G-A连锁多态可能是广西地区晚发PD患者的易感因素。

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 PINK1 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-SG-A（IVS5-5G-A） polymorphism and G12164A polymerphism 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% ） （X2 = 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%）（X2 =3. 951,P= 0. 047）. There were no significant differences in alleles. Conclusion This research suggests that chain relation polymerphism at IVSS-SG-A and GI2164A in PINK1 gene may he a susceptible factor for PD patients in Guangxi.