Article
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.
Nucleosides, nucleotides & nucleic acids - 1 Jun 2008
Yamada Yasukazu, Nomura Noriko, Yamada Kenichro, Wakamatsu Nobuaki, Kaneko Kiyoko, Fujimori Shin
Abstract excerpt
Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout. We have identified a number of HPRT mutations in patients manifesting different clinical phenotypes, by analyzing all nine exons of the HPRT gene (HPRT1) from genomic DNA and reverse transcribed mRNA using the PCR technique coupled with direct sequencing. Recently, we detected two...
Topics
- DNA Mutational Analysis
- Exons
- Gout
- Humans
- Hypoxanthine Phosphoribosyltransferase
- INDEL Mutation
- Japan
- Lesch-Nyhan Syndrome
- Mutation
- Phenotype
- Point Mutation
- RNA, Messenger