Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.
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.
Department of Pediatrics, Gifu University School of Medicine, Japan.
T
T
Kuwahara
T
T
Fukao
M
M
Kano
S
S
Yamaguchi
T
T
Orii
T
T
Hashimoto
D000101:Acetyl-CoA C-Acetyltransferase / Q000235:genetics*; D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D004277:DNA, Single-Stranded; D004259:DNA-Directed DNA Polymerase; D005260:Female; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000201:enzymology*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis; D019914:Taq Polymerase
D004277:DNA, Single-Stranded; D000102:Acetyl-CoA C-Acyltransferase; D000101:Acetyl-CoA C-Acetyltransferase; D019914:Taq Polymerase; D004259:DNA-Directed DNA Polymerase