Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu

• Published in: Genomics (San Diego, Calif.) Calif.), 2004-03, Vol.83 (3), p.373-383
• Main Authors: Clark, Rhonda M, Dalgliesh, Gillian L, Endres, Dan, Gomez, Mariluz, Taylor, Jim, Bidichandani, Sanjay I
• Format: Article
• Language: English
• Subjects: Algorithms; Alu element; Alu Elements - genetics; Base Sequence; Biological and medical sciences; Cerebrospinal fluid. Meninges. Spinal cord; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Evolution, Molecular; Expansion; Frataxin; Friedreich ataxia; Friedreich Ataxia - genetics; Fundamental and applied biological sciences. Psychology; GAA; Gene Frequency; Genes. Genome; Genetics of eukaryotes. Biological and molecular evolution; Genome, Human; Human genome; Humans; Instability; Iron-Binding Proteins - genetics; Medical sciences; Models, Genetic; Molecular and cellular biology; Molecular genetics; Mutation; Nervous system (semeiology, syndromes); Neurology; Premutation; Primate evolution; Trinucleotide Repeat Expansion; Triplet repeat
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1016/j.ygeno.2003.09.001

Friedreich ataxia is caused by expansion of a GAA triplet repeat (GAA-TR) in the FRDA gene. Normal alleles contain