Hsieh M L, Yang C Y, Tsai H F, Chen Y Y, Li C, Li S Y
Institute of Medicine, Chung Shan Medical and Dental College, Taichung, Taiwan, R.O.C.
Proc Natl Sci Counc Repub China B. 1997 Jul;21(3):91-5.
Spinocerebellar ataxia type 1 (SCA 1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. This neurodegeneration disease is associated 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. So far, we have collected peripheral blood from 78 normal individuals and 10 patients with dominant inherited ataxia 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 of the CAG repeat units of SCA 1 gene in the normal population in Taiwan. The normal range of CAG repeats is from 22 to 33 repeats, with the most common being 30 repeats. The range is relatively narrow compared to that reported for other ethnic groups. In addition, direct genomic PCR analysis of the SCA 1 gene from villous DNA has been successful in our laboratory. Screening of SCA 1 patients from patients with dominant inherited ataxia is currently underway in our laboratory. Here, we demonstrate that our molecular analysis technique makes possible the quick and accurate diagnosis of SCA1 patients and prenatal screening for SCA 1 families.
1型脊髓小脑共济失调（SCA 1）是一种常染色体显性疾病，其特征是小脑、脊髓和脑干发生神经变性。这种神经变性疾病与该基因编码区内不稳定的CAG重复序列的扩增有关。我们正在对正常人群和候选患者进行本地调查，以分析SCA 1基因中的CAG重复序列。到目前为止，我们已经从78名正常个体和10名患有显性遗传性共济失调疾病的患者中采集了外周血，并使用基因组聚合酶链反应（PCR）检测了SCA1 CAG三核苷酸重复序列。尽管尚未发现本地的SCA 1患者，但我们已经确定了台湾正常人群中SCA 1基因CAG重复单位的分布情况。CAG重复序列的正常范围是22至33次重复，最常见的是30次重复。与其他种族群体报告的范围相比，该范围相对较窄。此外，在我们实验室中，从绒毛DNA对SCA 1基因进行直接基因组PCR分析已经取得成功。我们实验室目前正在对患有显性遗传性共济失调的患者进行SCA 1患者的筛查。在此，我们证明我们的分子分析技术能够对SCA1患者进行快速准确的诊断，并对SCA 1家族进行产前筛查。
