Simple nonisotopic assays for detection of (CAG)(n) repeats expansions associated with seven neurodegenerative disorders

Diagnostic Molecular Pathology

Volumn 7, Issue 3, 1998, Pages 174-179

  Vuillaume, Isabelle ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Denaturing polyacrylamide gel electrophoresis; Expanded trinucleotide repeats; Molecular genetics; Neurodegenerative diseases; Polymerase chain reaction

Indexed keywords

DNA;

ALLELE; ARTICLE; DEGENERATIVE DISEASE; DNA SEQUENCE; GENE MUTATION; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; HUMAN CELL; HUNTINGTON CHOREA; NEUROLOGIC DISEASE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

EID: 0031782911     PISSN: 10529551     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019606-199806000-00009     Document Type: Article

References (4)

1. Andrew SE, Goldberg YP, Theilman J, Zeisler J, Hayden MR. A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet 1994;3:65-7.
2. Ashley CT, Warren ST. Trinucleotide repeat expansion and human disease. Annu Rev Genet 1995;29:703-28.
3. Brinkman RR, Mezei MM, Theilman J, Almqvist E, Hayden MR. The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet 1997;60:1202-10.
4. Castellvi-Bel S, Matilla T, Banchs MI, Kruyer H, Corral J, Mila M, Estivill X. Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1). J Med Genet 1994;31:654-5.