在一名患有琥珀酰辅酶A：3-酮酸辅酶A转移酶（SCOT）缺乏症的患者中，第一个内含子的剪接供体位点出现6个碱基对的缺失，导致外显子1内一个隐蔽剪接位点的异常剪接。
A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency.
作者信息
Fukao Toshiyuki, Sakurai Satomi, Rolland Marie-Odile, Zabot Marie-Therese, Schulze Andreas, Yamada Keitaro, Kondo Naomi
机构信息
Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1194, Japan.
出版信息
Mol Genet Metab. 2006 Nov;89(3):280-2. doi: 10.1016/j.ymgme.2006.04.014. Epub 2006 Jun 12.
Succinyl-CoA: 3-ketoacid-CoA transferase (SCOT; locus symbol OXCT, EC 2.8.3.5) deficiency is a rare genetic disorder affecting ketone body utilization in extra-hepatic tissues. A 6-bp deletion at the splice donor site of intron 1 resulted in the absence of a full-length mature SCOT mRNA with faint amounts of aberrantly spliced transcripts using a cryptic splice donor site within exon 1, which was located just 7 bases upstream from the authentic site in a SCOT deficient patient.
琥珀酰辅酶A：3-酮酸辅酶A转移酶（SCOT；基因座符号OXCT，酶编号2.8.3.5）缺乏症是一种罕见的遗传性疾病，影响肝外组织中酮体的利用。在一名SCOT缺乏症患者中，内含子1剪接供体位点的6个碱基缺失导致无法产生全长成熟的SCOT mRNA，仅存在少量利用外显子1内一个隐蔽剪接供体位点异常剪接的转录本，该隐蔽位点位于真实位点上游仅7个碱基处。
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