Article
The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.
Human genetics - 1 Nov 1996
Kamatani N, Terai C, Kim S Y, Chen C L, Yamanaka H, Hakoda M, Totokawa S, Kashiwazaki S
Abstract excerpt
The incidence of adenine phosphoribosyltransferase (APRT) deficiency is higher among Japanese nationals than among other ethnic groups, and the most common mutation (APRT*J, ATG to ACG mutation at codon 136) accounts for 68% of the disease-causing genes among Japanese. To investigate the origin o...
Topics
- Adenine Phosphoribosyltransferase
- Alleles
- DNA Mutational Analysis
- Evolution, Molecular
- Female
- Homozygote
- Humans
- Japan
- Male
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Taiwan