title: Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
abstract: A tandem repeat of exons 8 and 9 was identified in the cDNA for mitochondrial acetoacetyl-CoA thiolase (T2) in a typical T2 deficient patient. Routine mutation analysis using PCR at the genomic level had failed to identify any mutations. Alu element-mediated unequal homologous recombination between an Alu-Jo in intron 7 and another Alu-Jo in intron 9 appears to be responsible for this duplication.
authors: Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu 501-1194, Japan. toshi-gif@umin.net
authors: Toshiyuki
authors: T
authors: Fukao
authors: Gaixiu
authors: G
authors: Zhang
authors: Marie-Odile
authors: MO
authors: Rolland
authors: Marie-Therese
authors: MT
authors: Zabot
authors: Nathalie
authors: N
authors: Guffon
authors: Yusuke
authors: Y
authors: Aoki
authors: Naomi
authors: N
authors: Kondo
mesh_terms: D000101:Acetyl-CoA C-Acetyltransferase / Q000172:deficiency* / Q000235:genetics; D020087:Alu Elements / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic
chemical_list: D000101:Acetyl-CoA C-Acetyltransferase