A SIMPLE AND RAPID NONISOTOPIC - METHOD FOR SIZING CAG REPEATS IN THESCA1 GENE

Authors
ANNESI G MUGLIA M CONFORTI FL LEONE O GRANDINETTI C IMBROGNO E GABRIELE AL NASO F BRANCATI C
Citation
G. Annesi et al., A SIMPLE AND RAPID NONISOTOPIC - METHOD FOR SIZING CAG REPEATS IN THESCA1 GENE, Human heredity, 47(1), 1997, pp. 47-51
Citations number
14
Categorie Soggetti
Genetics & Heredity
Journal title
Human heredity → ACNP
ISSN journal
00015652
Volume
47
Issue
1
Year of publication
1997
Pages
47 - 51
Database
ISI
SICI code
0001-5652(1997)47:1<47:ASARN->2.0.ZU;2-Q
Abstract
Spinocerebellar ataxia type 1 is caused by the expansion of a CAG trin ucleotide repeat, located at th 5' end of the gene responsible for the disease (SCA1 gene). We propose a simple and rapid method for SCAI di agnosis, avoiding both radioactive and Southern blotting analysis. The method allows an accurate allele sizing by visualization of polymeras e chain reaction products through a silver nitrate-stained polyacrylam ide gel.