title: Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
abstract: Lesch-Nyhan syndrome is caused by the complete deficiency of hypoxanthine guanine phosphoribosyl-transferase (HPRT). By the analysis of genomic DNA and mRNA using the polymerase chain reaction (PCR) technique coupled with direct sequencing, five independent mutations in HPRT genes have been identified in Korean Lesch-Nyhan families. Two novel mutations and three previously reported mutations have been found in five independent families. Heterozygous carriers were detected in all the families, and prenatal diagnosis was carried out in two families.
authors.affiliation: Department of Pediatrics, Seoul National University, College of Medicine, Korea.
authors.forename: K J
authors.initials: KJ
authors.lastname: Kim
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: K
authors.initials: K
authors.lastname: Suzumori
authors.forename: Y
authors.initials: Y
authors.lastname: Choi
authors.forename: S W
authors.initials: SW
authors.lastname: Yang
authors.forename: H I
authors.initials: HI
authors.lastname: Cheong
authors.forename: Y S
authors.initials: YS
authors.lastname: Hwang
authors.forename: H
authors.initials: H
authors.lastname: Goto
authors.forename: N
authors.initials: N
authors.lastname: Ogasawara
mesh_terms: D005091:Exons; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007723:Korea; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011296:Prenatal Diagnosis / Q000379:methods; D014158:Transcription, Genetic
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase