title: Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
abstract: Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout. We have identified 34 mutations in 28 Japanese, 7 Korean, and 1 Indian families with the patients manifesting different clinical phenotypes, including two rare cases in female subjects, by the analysis of all nine exons of HPRT from the genomic DNA and reverse transcribed mRNA using PCR technique coupled with direct sequencing.
authors.affiliation: Department of Genetics, Inst. Developmental Res., Aichi Human Service Center, Aichi, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: K
authors.initials: K
authors.lastname: Yamada
authors.forename: S
authors.initials: S
authors.lastname: Sonta
authors.forename: N
authors.initials: N
authors.lastname: Wakamatsu
authors.forename: N
authors.initials: N
authors.lastname: Ogasawara
mesh_terms: D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D007194:India; D007564:Japan; D007723:Korea; D007926:Lesch-Nyhan Syndrome / Q000235:genetics; D008297:Male; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000378:metabolism; D017422:Sequence Analysis, DNA; D013577:Syndrome
chemical_list: D012333:RNA, Messenger; D007041:Hypoxanthine Phosphoribosyltransferase