Southern analysis for detection of CAG repeat expansions associated with dentatorubral pallidoluysian atrophy

R. L. Alford, R. L. Margolis, C. A. Ross, C. S. Richards

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)354-356
Number of pages3
JournalHuman genetics
Volume99
Issue number3
DOIs
StatePublished - Mar 1 1997

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Southern analysis for detection of CAG repeat expansions associated with dentatorubral pallidoluysian atrophy'. Together they form a unique fingerprint.

  • Cite this