Annesi G, Muglia M, Conforti F L, Leone O, Grandinetti C, Imbrogno E, Gabriele A L, Naso F, Brancati C
Istituto di Medicina Sperimentale e Biotecnologie, CNR, Cosenza, Italia.
Hum Hered. 1997 Jan-Feb;47(1):47-51. doi: 10.1159/000154389.
Spinocerebellar ataxia type 1 is caused by the expansion of a CAG trinucleotide repeat, located at the 5' end of the gene responsible for the disease (SCA1 gene). We propose a simple and rapid method for SCA1 diagnosis, avoiding both radioactive and Southern blotting analysis. The method allows an accurate allele sizing by visualization of polymerase chain reaction products through a silver nitrate-stained polyacrylamide gel.
1型脊髓小脑共济失调是由位于该疾病相关基因（SCA1基因）5'端的CAG三核苷酸重复序列扩增引起的。我们提出了一种简单快速的SCA1诊断方法，避免了放射性分析和Southern印迹分析。该方法通过硝酸银染色的聚丙烯酰胺凝胶可视化聚合酶链反应产物，从而实现对等位基因的准确大小测定。
