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Molecular basis of β-ketothiolase deficiency: Mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme a thiolase gene

✍ Scribed by Toshiyuki Fukao; Seiji Yamaguchi; Tadao Orii; Takashi Hashimoto

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
669 KB
Volume
5
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by R. G. H. Cotton P-Ketothiolase deficiency is a deficiency in mitochondrial acetoacetyl-CoA thiolase (T2). We present here an update on mutations and polymorphisms in the human T 2 gene. N o 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 T 2 deficiency has not been detected but 4 mutations (N158D, Q272X, 8 2 8 + 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 T 2 activity. A correlation between clinical phenotype and genotype in T 2 deficiency seems unlikely.

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