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Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency

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

Publisher: Springer
Year: 1992
Tongue: English
Weight: 455 KB
Volume: 90
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00220063

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✦ Synopsis

We analyzed the mitochondrial acetoacetyl-CoA thiolase gene (T2) by Southern blotting. Fifteen unrelated healthy individuals and members of five families with 3-ketothiolase deficiency (3KTD) were analyzed. We found a TaqI polymorphism, the heterozygosity of which was calculated to be 0.5 among healthy Japanese individuals. This restriction fragment length polymorphism (RFLP) proved to be useful for detecting 3KTD patients and its obligatory carriers, at the DNA level and in two out of five 3KTD families. This polymorphism was found to be generated by the presence/absence of a TaqI site in intron 9 of the T2 gene. With in vitro amplification of the genomic region around the TaqI site, this RFLP can be detected within 2 days.

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