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