本文選題：遺傳性脊髓小腦型共濟(jì)失調(diào) + α-突觸核蛋白�。� 參考：《新疆醫(yī)科大學(xué)》2014年碩士論文

【摘要】：目的：探討新疆維吾爾族帶有帕金森癥狀的遺傳性脊髓小腦型共濟(jì)失調(diào)12型的血漿中是否伴有α-突觸核蛋白的異常聚集,其發(fā)病是否與帕金森病的發(fā)病機(jī)制相似,是否為其異常聚集所致。方法：依據(jù)Harding標(biāo)準(zhǔn),收集一個(gè)維吾爾族家系,臨床診斷為脊髓小腦共濟(jì)失調(diào)患者16人,家系癥狀前患者5人,正常28人進(jìn)行ELISA法提取血漿a-突觸核蛋白。該家系在本課題之前已經(jīng)證實(shí)為SCA12,其應(yīng)用聚合酶鏈反應(yīng)、瓊脂糖凝膠電泳、T載體克隆重組DNA技術(shù)并結(jié)合直接測(cè)序等技術(shù)確診,此次又對(duì)其致病基因CAG三核苷酸病理重復(fù)次數(shù)突變加以分析,以SARA評(píng)分量表反映共濟(jì)失調(diào)患者的病情嚴(yán)重程度。結(jié)果：(1)患者組與癥狀前患者組、正常對(duì)照組三組α-突觸核蛋白表達(dá)水平不完全相同(P0.05),SCA12患者組濃度的總體平均值最高。但是SCA12患者發(fā)病年齡、病程與α-突觸核蛋白濃度無(wú)相關(guān)關(guān)系。(2)三組CAG序列重復(fù)次數(shù)不完全相同(P0.05),其中SCA12患者組和癥狀前患者組,患者組和正常對(duì)照組CAG序列重復(fù)次數(shù)的差異具有統(tǒng)計(jì)學(xué)意義,正常對(duì)照組CAG序列重復(fù)次數(shù)總體平均值最少。SCA12患者發(fā)病年齡、病程與CAG序列重復(fù)次數(shù)無(wú)相關(guān)關(guān)系。(3) SCA12患者病程與SARA評(píng)分兩變量呈正相關(guān)關(guān)系。SCA12患者病程越長(zhǎng),SARA評(píng)分越高,共濟(jì)失調(diào)患者的病情越嚴(yán)重。結(jié)論：SCA12患者體內(nèi)有a-突觸核蛋白異常聚集,可能參與SCA12的發(fā)病。SCA12患者CAG序列重復(fù)次數(shù)高;SCA12病程越長(zhǎng),SARA評(píng)分越高。
[Abstract]:Objective: to investigate whether abnormal aggregation of 偽 -synaptophysin is present in the plasma of hereditary cerebellar ataxia type 12 with Parkinson's syndrome in Xinjiang Uygur, and whether the pathogenesis is similar to that of Parkinson's disease.Whether it is caused by its abnormal aggregation.Methods: according to Harding standard, a Uygur family was collected. 16 patients were diagnosed as spinocerebellar ataxia, 5 patients were diagnosed as presymptomatic patients, and 28 normal subjects were extracted plasma a- synaptic nucleoprotein by ELISA method.SCA12 was confirmed by PCR, agarose gel electrophoresis T vector clone and recombinant DNA technique, and combined with direct sequencing.This time, the mutation of CAG trinucleotide repeat was analyzed, and the severity of ataxia was reflected by SARA scale.Results the average level of 偽 -synaptophysin expression was not the same as that of P0.05 and SCA12 in the patients group and the pre-symptom group, and the average level of 偽 -synaptophysin in the normal control group was the highest.However, there was no correlation between onset age, course of disease and 偽 -synaptophysin concentration in patients with SCA12.There was significant difference in the repeat number of CAG sequence between the patient group and the normal control group. The average number of repeat times of the CAG sequence in the normal control group was the lowest. The onset age of the patients with SCA12 was the lowest.There was no correlation between the course of disease and the repeat number of CAG sequence. 3) there was a positive correlation between the course of disease and the SARA score in patients with SCA12. The longer the course of disease was, the higher the score of SARA was, and the more serious the condition of ataxia was.Conclusion there is abnormal aggregation of a-synaptic nucleoprotein in patients with SCA12, which may be involved in the pathogenesis of SCA12. The longer the course of SCA12 is, the higher the score of SARA may be.
【學(xué)位授予單位】：新疆醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R744.7

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