Genetic evaluation of spinocerebellar ataxia ۱,۲,۳,۶

Publish Year: 1400
نوع سند: مقاله کنفرانسی
زبان: English
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BIOLOGY04_095

تاریخ نمایه سازی: 7 اردیبهشت 1401

Abstract:

SCA (Spinocerebellar ataxia) is a subset of inherited cerebellar ataxia that is autosomal dominantly transferred. These are progressive neurological diseases that have clinical features of ataxia Which result from the destruction of the cerebellum, But it can also affect other areas, including the brainstem. Many SCAs are caused by the frequent proliferation of CAG nucleotides that encode polyglutamine and thus produce the toxic polyglutamine (polyQ) protein. They are classified according to specific genetic mutations. The three main symptoms of SCA include gait ataxia and incoordination, nystagmus, vision problems, and dysarthria. In this study,۱۵ Iranian suspected to SCA disease were clinically diagnosed during NOV/۲۰۱۹-SEP/۲۰۲۱. PCR was performed for ۱۵ patientssuspected of Spinocerebellar Ataxia and patients was analyzed according to vertical electrophoresis. PCR function was successful for all ۱۵ patients and according to the results obtained by conventional PCR, the number of three nucleotide replications for ۱۲ pepole was within the normal range and ۳ patients were reported. According to the PCR method, studies showed that ۳ suspects of SCA were infected with SCA۳, while ۱۲ patients were reportedusing the normal.Therefore, the PCR method is an accurate method for detecting three abnormal CAG nucleotides in spinocerebellarataxia type ۱, ۲, ۳ and ۶. The purpose of this test is to provide a diagnostic method and prenatal diagnosis of this disease.

Authors

Sh Sharafi,

Biotechnology Department, Faculty of Chemistry, University of Kashan, Kashan, Iran

Z Rezvani

was with the Biotechnology Department, Faculty of Chemistry, University of Kashan, Kashan, Iran