Article
Prenatal diagnosis in a family with mitochondrial acetoacetyl-coenzyme A thiolase deficiency with the use of the polymerase chain reaction followed by the heteroduplex detection method.
Prenatal diagnosis - 1 Apr 1995
Fukao T, Wakazono A, Song X Q, Yamaguchi S, Zacharias R, Donlan M A, Orii T
Abstract excerpt
Mitochondrial acetoacetyl-coenzyme A (CoA) thiolase deficiency is an organic aciduria which affects isoleucine and ketone body catabolism. GK16 (the index patient) was affected with this disorder and previous studies had revealed that GK16 was a compound heterozygote with IVS8(+1) gt to tt and A3...
Topics
- Acetyl-CoA C-Acetyltransferase
- DNA Fingerprinting
- DNA Mutational Analysis
- Exons
- Female
- Humans
- Mitochondria
- Mutation
- Nucleic Acid Heteroduplexes
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Pregnancy
- Prenatal Diagnosis