Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu 501-1194, Japan.
Mol Genet Metab. 2013 Sep-Oct;110(1-2):184-7. doi: 10.1016/j.ymgme.2013.07.004. Epub 2013 Jul 14.
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.
线粒体乙酰乙酰辅酶 A 硫解酶缺乏症是一种常染色体隐性疾病，其特征为间歇性酮酸中毒。我们开发了一种多重连接依赖性探针扩增方法，用于检测编码该酶的 ACAT1 基因突变，并使用先前报道的两位患者的基因中存在部分缺失和重复的 DNA 对其进行了验证。使用该方法，我们在第三位患者中鉴定出了一个包括外显子 3-4 的杂合性缺失，可能是由于 Alu 序列之间的 Alu 介导的非同源性重组所致。
