Article
Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method.
Clinica chimica acta; international journal of clinical chemistry - 16 Dec 1991
Kawaguchi R, Higashimoto H, Hikiji K, Hakoda M, Kamatani N
Abstract excerpt
About 79% of all the Japanese patients with adenine phosphoribosyltransferase (APRT) deficiency have been estimated to possess at least one APRT*J allele with a substitution of ACG for ATG at codon 136. We developed a non-radioactive method for diagnosing genotypes of this disease. Part of the genomic DNA including the mutation site of the APRT*J allele was amplified using polymerase chain reaction and the...
Topics
- Adenine Phosphoribosyltransferase
- Alleles
- Base Sequence
- Codon
- DNA
- Humans
- Japan
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Polymerase Chain Reaction