• 作者： 謝明麗; 楊千瑩; 蔡蕙芳; 陳逸芸; 李娟; 李宣佑
• 作者服務機構： 中山醫學院醫學研究所; 中山醫學院醫事技術系; 中山醫學院細胞遺傳室
• 中文摘要： 第一型小腦脊髓幹運動失調症候群，簡稱SCA1，是一種體染色體顯性的遺傳性疾病。其特性為小腦、脊髓、和腦
  幹的神經退化。這種神經退化性疾病主要是由於此基因的轉譯區內有一段CAG核酸重複序列發生倍增突變所致。本實
  驗室針對台灣區正常人及疑似此病的病人之SCA1基因中CAG序列重複次數作統計分析。我們已收集了78位正常人及
  10位顯性遺傳運動失調的病人之周邊血液，並且利用聚合?連鎖反應(PCR)來分析SCA1基因中CAG三核甘酸重複序
  列。目前為止，雖尚未發現SCA1病人，但我們已完成臺灣地區正常族群的SCA1基因中CAG三核甘酸重複序列的分
  布範圍，其正常範圍為22至33個重複，且其中大部分為30個重複。此結果與國外其它種族的報告比較，分布範圍顯
  得較為狹窄。除此之外，本實驗室利用PCR的方法，已成功的從絨毛細胞分析到SCA1基因。而篩選SCA1病人的工作
  仍然持續進行中。我們於此展現這套分生的偵測方法能夠快速且正確的鑑定SCA1病人，未來更可應用於SCA1患者家
  庭中孕婦的產前診斷。
  n
• 英文摘要： Spinocerebellar ataxia type 1 (SCA 1）is an autosomal dominant disorder characterized byneurodegeneration of the cerebellum, spinal cord and brainstem. This neurodegeneration disease is associ-ated with expansion of unstable CAG repeats within the coding region of the gene. We are conducting a local survey of the normal population and candidate patients to analyze the CAG repeats in SCA 1 gene. Sofar, we have collected peripheral blood from 78 normal individuals and 10 patients with dominant inheritedataxia disorders, and assayed the SCA1 CAG trinucleotide repeat using genomic polymerase chain reaction(PCR). Even though no local SCA 1 patients have been identified, we have established the distributions ofthe CAG repeat units of SCA 1 gene in the normal population in Taiwan. The normal range of CAG repeatsis from 22 to 33 repeats, with the most common being 30 repeats. The range is relatively narrow compared tothat reported for other ethnic groups. In addition, direct genomic PCR analysis of the SCA 1 gene fromvillous DNA has been successful in our laboratory. Screening of SCA 1 patients from patients with dominantinherited ataxia is currently underway in our laboratory. Here, we demonstrate that our molecular analysistechnique makes possible the quick and accurate diagnosis of SCA1 patients and prenatal screening forSCA 1 families.
• 中文關鍵字： CAG repeats; spinocerebellar ataxia tyep 1, neurodegeneration disease.
• 英文關鍵字： --