Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
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.
Fukao
Toshiyuki
T
Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu 501-1194, Japan. toshi-gif@umin.net
Zhang
Gaixiu
G
Rolland
Marie-Odile
MO
Zabot
Marie-Therese
MT
Guffon
Nathalie
N
Aoki
Yusuke
Y
Kondo
Naomi
N
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
D000101:Acetyl-CoA C-Acetyltransferase