title: In vivo mutation at the human HPRT locus.
abstract: The molecular nature of mutations that arise in vivo at the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus can be determined. A wide variety of such mutations can be detected, including large and small deletions, frameshift mutations and single-base substitutions, as well as alterations that cause aberrant mRNA splicing. Here, we review the available information on mutations at this locus.
authors.affiliation: Pathology Department, University of North Carolina, Chapel Hill.
authors.forename: N F
authors.initials: NF
authors.lastname: Cariello
authors.forename: T R
authors.initials: TR
authors.lastname: Skopek
mesh_terms: D000328:Adult; D002478:Cells, Cultured; D004252:DNA Mutational Analysis; D005091:Exons; D016368:Frameshift Mutation; D005796:Genes; D006073:Gout / Q000235:genetics; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007231:Infant, Newborn; D007926:Lesch-Nyhan Syndrome / Q000235:genetics; D009154:Mutation; D017354:Point Mutation; D012326:RNA Splicing; D017384:Sequence Deletion; D012907:Smoking / Q000235:genetics; D013601:T-Lymphocytes; D014960:X Chromosome
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase