本文選題：帕金森病　切入點(diǎn)：SMPD基因　出處：《山東醫(yī)藥》2017年20期 　論文類型：期刊論文

【摘要】：目的探討SMPD1基因3、4號(hào)外顯子突變與原發(fā)性帕金森病(PD)的關(guān)系。方法選擇臨床確診的原發(fā)性PD患者103例(PD組)、體檢健康者103例(對(duì)照組),按照SMPD1基因序列和相關(guān)文獻(xiàn)設(shè)計(jì)引物,采用PCR技術(shù)對(duì)SMPD1基因3、4號(hào)外顯子進(jìn)行擴(kuò)增,并將PCR產(chǎn)物進(jìn)行序列測(cè)序和突變分析。結(jié)果經(jīng)對(duì)測(cè)序結(jié)果序列比對(duì)發(fā)現(xiàn),兩組SMPD1基因存在p.A402T位點(diǎn)突變,均為雜合突變,即基因型為GA型。其中,PD組SMPD1基因p.A402T位點(diǎn)突變概率為11.65%(12/103),對(duì)照組為0.97%(1/103),兩組比較P0.01。生物信息學(xué)分析顯示,該突變導(dǎo)致其編碼的溶酶體酶SMase穩(wěn)定性降低。Mutation Taster和PolyPhen2軟件檢測(cè)結(jié)果顯示,SMPD1基因存在p.A402T位點(diǎn)致病性突變。結(jié)論原發(fā)性PD患者SMPD1基因存在p.A402T位點(diǎn)突變,該位點(diǎn)突變可能增加PD的發(fā)病風(fēng)險(xiǎn)。
[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.
【作者單位】： 濰坊醫(yī)學(xué)院;聊城市人民醫(yī)院;濰坊醫(yī)學(xué)院附屬益都中心醫(yī)院;
【分類號(hào)】：R742.5
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本文編號(hào)：1629633