Molecular basis of β‐ketothiolase deficiency: Mutations and polymorphisms in the human mitochondrial acetoacetyl‐coenzyme a thiolase gene
Molecular basis of β‐ketothiolase deficiency: Mutations and polymorphisms in the human mitochondrial acetoacetyl‐coenzyme a thiolase gene
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β-酮硫解酶缺乏症的分子基础：人线粒体乙酰乙酰辅酶a硫解酶基因的突变和多态性
DOI：
10.1002/humu.1380050203
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发表时间：
1995
期刊：
影响因子：
3.9
通讯作者：
T. Hashimoto
中科院分区：
文献类型：
--
作者：
T. Fukao;S. Yamaguchi;T. Orii;T. Hashimoto
β-酮硫解酶缺乏症是线粒体乙酰乙酰辅酶A硫解酶（T2）缺乏症。我们在这里提出了在人类T2基因的突变和多态性的更新。在Southern印迹分析中没有观察到大的缺失或插入。在13名T2缺陷患者中发现了17种突变：9种错义突变、1种无义突变、5种剪接位点突变和2种小缺失。还检测到两个多态性碱基替换。T2缺乏症的常见突变尚未检测到，但在两个独立的家族中鉴定出4个突变（N158 D，Q272 X，828+1，1163+2）。25个突变等位基因中有11个导致了异常剪接。使用Lipofectin试剂对13种突变cDNA进行的体内表达分析表明，T297 M、A301 P和A380 T突变等位基因保留了5 - 10%的正常T2活性。T2缺乏症的临床表型和基因型之间的相关性似乎不太可能。© Wiley利斯公司
β‐Ketothiolase deficiency is a deficiency in mitochondrial acetoacetyl‐CoA thiolase (T2). We present here an update on mutations and polymorphisms in the human T2 gene. No large deletion or insertion has been observed in Southern blot analysis. Seventeen mutations were identified in 13 T2‐deficient patients: nine missense, one nonsense, and five splice‐site mutations, and two small deletions. Two polymorphic base substitutions were also detected. A common mutation in T2 deficiency has not been detected but 4 mutations (N158D, Q272X, 828+1, 1163+2) were identified in two independent families. Eleven of 25 mutant alleles identified caused aberrant splicing. In vivo expression analysis of 13 mutant cDNAs using a Lipofectin reagent suggested that T297M, A301P, and A380T mutant alleles retain 5‐10% normal T2 activity. A correlation between clinical phenotype and genotype in T2 deficiency seems unlikely. © Wiley‐Liss, Inc.
人过氧化物酶体 3-氧代酰基辅酶 A 硫解酶缺乏症。
DOI：
10.1073/pnas.84.8.2494
发表时间：
1987
影响因子：
11.1
作者：
Schram,AW;Goldfischer,S;vanRoermund,CW;Brouwer-Kelder,EM;Collins,J;Hashimoto,T;Heymans,HS;vandenBosch,H;Schutgens,RB;Tager,JM
通讯作者：
Tager,JM