原发性PD患者SMPD1基因3、4号外显子突变及其临床意义

发布时间：2018-03-18 12:44

  本文选题：帕金森病　切入点：SMPD基因　出处：《山东医药》2017年20期 　论文类型：期刊论文

【摘要】：目的探讨SMPD1基因3、4号外显子突变与原发性帕金森病(PD)的关系。方法选择临床确诊的原发性PD患者103例(PD组)、体检健康者103例(对照组),按照SMPD1基因序列和相关文献设计引物,采用PCR技术对SMPD1基因3、4号外显子进行扩增,并将PCR产物进行序列测序和突变分析。结果经对测序结果序列比对发现,两组SMPD1基因存在p.A402T位点突变,均为杂合突变,即基因型为GA型。其中,PD组SMPD1基因p.A402T位点突变概率为11.65%(12/103),对照组为0.97%(1/103),两组比较P0.01。生物信息学分析显示,该突变导致其编码的溶酶体酶SMase稳定性降低。Mutation Taster和PolyPhen2软件检测结果显示,SMPD1基因存在p.A402T位点致病性突变。结论原发性PD患者SMPD1基因存在p.A402T位点突变,该位点突变可能增加PD的发病风险。
[Abstract]:Objective to investigate the relationship between the mutation of exon 3,4 of SMPD1 gene and primary Parkinson's disease (PD). Methods the primer was designed according to the sequence of SMPD1 gene and related literature in 103 patients with primary PD and 103 healthy controls. The exons 3,4 of SMPD1 gene were amplified by PCR technique, and the PCR products were sequenced and mutated. Results by sequencing sequence alignment, it was found that the two groups of SMPD1 gene had p. A402T mutation, both of which were heterozygous mutations. The mutation probability of p. A402T locus of SMPD1 gene in PD group was 11.65 / 10 ~ (3) and that in control group was 0.97 / 10 ~ (3), respectively (P < 0.01). The mutation resulted in the decrease of the stability of lysosomal enzyme SMase. The results of PolyPhen2 software and PolyPhen2 software showed that there was a p. A402T locus pathogenicity mutation in the SMPD1 gene. Conclusion there is a p. A402T mutation in the SMPD1 gene of primary PD patients. This mutation may increase the risk of PD.
【作者单位】： 潍坊医学院;聊城市人民医院;潍坊医学院附属益都中心医院;
【分类号】：R742.5
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本文编号：1629633