Southern analysis for detection of CAG repeat expansions associated with dentatorubral pallidoluysian atrophy.
Dentatorubral pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder caused by expansion of an unstable, tandemly repeated trinucleotide sequence, (CAG)n, in a novel gene on human chromosome 12p12-pter. Molecular diagnosis of DRPLA uses the polymerase chain reaction (PCR) to amplify and characterize the number of CAG repeats carried by individuals. The PCR analysis is fairly straightforward when two alleles are identified. However, when only a single allele is observed, it is difficult to know whether the sample is homozygous or whether there was failure to amplify the second allele. We describe a Southern analysis for detection of the DRPLA CAG repeat, providing an independent method for the assessment of expanded alleles.
Alford
R L
RL
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Margolis
R L
RL
Ross
C A
CA
Richards
C S
CS
D001284:Atrophy; D015139:Blotting, Southern; D001921:Brain / Q000473:pathology; D005973:Glutamine / Q000235:genetics; D006801:Humans; D009422:Nervous System Diseases / Q000235:genetics*; D018911:Trinucleotide Repeats
D005973:Glutamine