常染色体显性转移的SCA(脊髓小脑共济失调)是遗传性小脑共济失调的一个子集。这些进行性神经系统疾病具有共济失调的临床特征,并且源于小脑的破坏。这些疾病也会影响其他地区,包括脑干.CAG核苷酸的频繁增殖可以编码多聚谷氨酰胺,因此,产生有毒的聚谷氨酰胺(polyQ)蛋白,导致许多类型的SCA。它们根据特定的基因突变进行分类。SCA的主要症状,步态共济失调和不协调,眼球震颤,视力问题,和构音障碍,可以提到。在这项研究中,从2019年11月至2021年9月,31名被怀疑患有SCA疾病的伊朗人被临床诊断。对于这31名怀疑脊髓小脑共济失调的患者,进行PCR,分析基于垂直电泳。对于SCA3患者,进行了TP-PCR技术,并通过毛细管电泳进行了评估。对于所有31名患者,根据常规PCR获得的结果,PCR功能是成功的。三个核苷酸重复的数量在22个人的正常范围内,报告了9名患者。研究显示,根据TP-PCR技术,3名疑似SCA的人感染SCA3,这是使用PCR方法诊断出SCA3的7个人。由于本试验的目的是为本病提供更准确的诊断方法和产前诊断,TP-PCR方法被证明更适合用于脊髓小脑共济失调3型中异常三核苷酸CAG的诊断。
SCA (spinocerebellar ataxia) which is autosomal dominantly transferred is a subset of inherited cerebellar ataxia. These progressive neurological diseases have clinical features of ataxia and are derived from the destruction of the cerebellum. These diseases can also affect other areas, including the brainstem. Frequent proliferation of CAG nucleotides can encode polyglutamine and, as a result, produce the toxic polyglutamine (poly Q) protein that leads to many types of SCAs. They are categorized based on specific genetic mutations. The main symptoms of SCA, gait ataxia and incoordination, nystagmus, vision problems, and dysarthria, can be mentioned. In this study, 31 Iranians who were suspected of SCA disease were clinically diagnosed from November 2019 to September 2021. For these 31 patients suspected of spinocerebellar ataxia,
PCR was performed, and the analysis was based on vertical electrophoresis. For SCA3 patients, the TP-
PCR technique was carried out and evaluated by capillary electrophoresis. For all 31 patients,
PCR function was successful according to the results attained by conventional
PCR. The number of three nucleotide replications was within the normal range for 22 people, and nine patients were reported. Studies showed that three people suspected of SCA were infected with SCA3 according to the TP-PCR technique, and this was while seven people were diagnosed with SCA3 using the
PCR method. As the purpose of this test is to provide a more accurate diagnostic method and prenatal diagnosis of this disease, the TP-
PCR method proved to be more suitable when applied for the diagnosis of abnormal trinucleotides CAG in spinocerebellar ataxia type 3.