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A Simple and Rapid Nonisotopic Method for Sizing CAG Repeats in the SCA1 Gene

 

作者: G. Annesi,   M. Muglia,   F.L. Conforti,   O. Leone,   C. Grandinetti,   E. Imbrogno,   A.L. Gabriele,   F. Naso,   C. Brancati,  

 

期刊: Human Heredity  (Karger Available online 1997)
卷期: Volume 47, issue 1  

页码: 47-51

 

ISSN:0001-5652

 

年代: 1997

 

DOI:10.1159/000154389

 

出版商: S. Karger AG

 

关键词: Spinocerebellar ataxia type 1 gene;CAG repeat detection;Spinocerebellar ataxias

 

数据来源: Karger

 

摘要:

Spinocerebellar ataxia type 1 is caused by the expansion of a CAG trinucleotide repeat, located at th 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 ge

 

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