Article
Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system.
Journal of clinical laboratory analysis - 1 Jan 2000
Funato T, Nishiyama Y, Ioritani N, Matsuki R, Yoshida K, Kaku M, Sasaki T, Ideguchi H, Ono J
Abstract excerpt
We have applied an established technique, the polymerase chain reaction (PCR) with LightCycler technology, to a single disease with well-defined mutations. This assay produces results within only 30 min by combining PCR and fluorescence detection in one tube without electrophoretic band detection. In this study, we found 2,8-dihydroxyadenine (DHA) lithiasis in Japanese patients who were heterozygous for...
Topics
- Adenine
- Adenine Phosphoribosyltransferase
- Adolescent
- Base Sequence
- DNA
- DNA Mutational Analysis
- Female
- Genotype
- Heterozygote
- Humans
- Male