Article
Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes.
American journal of human genetics - 1 Mar 1991
Hakoda M, Yamanaka H, Kamatani N, Kamatani N
Abstract excerpt
An accurate diagnosis of heterozygotes for autosomal recessive disorders with unknown mutations can be difficult. Using a unique phenomenon occurring in vivo, we designed a method for the diagnosis of heterozygotes for adenine phosphoribosyltransferase (APRT) deficiency which makes way for a qualitative distinction between normal and heterozygous subjects. We cultured peripheral blood mononuclear cells with...
Topics
- 2-Aminopurine
- Adenine Phosphoribosyltransferase
- Alleles
- Base Sequence
- Cells, Cultured
- Cloning, Molecular
- Cytotoxins
- DNA
- Drug Resistance
- Gene Frequency
- Genetic Carrier Screening