Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8344106 | Molecular Genetics and Metabolism | 2013 | 4 Pages |
Abstract
Mitochondrial acetoacetyl-CoA thiolase deficiency is an autosomal recessive disorder, characterized by intermittent ketoacidosis. We developed a multiplex ligation-dependent probe amplification method for mutation detection in the ACAT1 gene, which encodes this enzyme, and validated it using DNAs from two previously reported patients having partial deletion and duplication in this gene. Using this method, we identified a heterozygous deletion including exons 3-4 in a third patient, likely due to Alu-mediated non-equal homologous recombination between Alu sequences.
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Authors
Toshiyuki Fukao, Yuka Aoyama, Keiko Murase, Tomohiro Hori, Rajesh K. Harijan, Rikkert K. Wierenga, Avihu Boneh, Naomi Kondo,