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Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Fukao, Toshiyuki; Aoyama, Yuka; Murase, Keiko; Hori, Tomohiro; Harijan, Rajesh K; Wierenga, Rikkert K; Boneh, Avihu; Kondo, Naomi.
Afiliação
  • Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu 501-1194, Japan. toshi-gif@umin.net
Mol Genet Metab ; 110(1-2): 184-7, 2013.
Article em En | MEDLINE | ID: mdl-23920042
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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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acetil-CoA C-Acetiltransferase / Elementos Alu / Reação em Cadeia da Polimerase Multiplex / Recombinação Homóloga Idioma: En Ano de publicação: 2013 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acetil-CoA C-Acetiltransferase / Elementos Alu / Reação em Cadeia da Polimerase Multiplex / Recombinação Homóloga Idioma: En Ano de publicação: 2013 Tipo de documento: Article