本文選題：脊髓小腦共濟(jì)失調(diào)型 + CAG異常突變��； 參考：《廣東醫(yī)學(xué)》2017年12期

【摘要】：目的探討脊髓小腦共濟(jì)失調(diào)7型(SCA7)家系的臨床表現(xiàn)及遺傳規(guī)律。方法收集一臨床診斷為SCA7家系的臨床資料,分析基因型與表型之間的關(guān)系。結(jié)果確診該病例為SCA7家系;其主要特征為視覺(jué)障礙、共濟(jì)失調(diào)、眼球運(yùn)動(dòng)受限等。結(jié)論 ATXN7基因中堿基對(duì)CAG異常重復(fù)擴(kuò)增為SCA7的發(fā)病原因,且與臨床表現(xiàn)有密切關(guān)系。
[Abstract]:Objective to investigate the clinical and genetic characteristics of spinal cerebellar ataxia type 7 (SCA 7) pedigree. Methods the clinical data of a SCA7 family were collected and the relationship between genotype and phenotype was analyzed. Results this case was confirmed as SCA7 pedigree with the main features of visual impairment, ataxia, limited eye movement and so on. Conclusion the abnormal repeat amplification of base pair CAG in ATXN7 gene is the cause of SCA7, and it is closely related to clinical manifestation.
【作者單位】： 安徽理工大學(xué)醫(yī)學(xué)院生殖與遺傳教研室;南京醫(yī)科大學(xué)第一附屬醫(yī)院泌尿外科;上海交通大學(xué)附屬第一人民醫(yī)院眼科;
【基金】：國(guó)家級(jí)大學(xué)生創(chuàng)新創(chuàng)業(yè)訓(xùn)練計(jì)劃項(xiàng)目(編號(hào):201510361091)
【分類號(hào)】：R744.7
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本文編號(hào)：1968789