A simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene.
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.
Annesi
G
G
Istituto di Medicina Sperimentale e Biotecnologie, CNR, Cosenza, Italia.
Muglia
M
M
Conforti
F L
FL
Leone
O
O
Grandinetti
C
C
Imbrogno
E
E
Gabriele
A L
AL
Naso
F
F
Brancati
C
C
D004262:DNA Restriction Enzymes; D004587:Electrophoresis, Agar Gel; D005819:Genetic Markers; D006801:Humans; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics*
D005819:Genetic Markers; D004262:DNA Restriction Enzymes