title: An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a SstII polymorphism.
abstract: A DNA variation in the coding region of the human cystatin C gene has been detected by direct sequencing. The polymorphism, a G/A transition, leads to an Ala/Thr variation in the penultimate amino acid of the signal peptide. The base substitution results in the loss of a SstII restriction site, thus allowing the design of a rapid polymerase chain reaction assay for analysis of this polymorphism in the population.
authors.affiliation: Department of Clinical Chemistry, University of Lund, University Hospital, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Balbín
authors.forename: A
authors.initials: A
authors.lastname: Grubb
authors.forename: M
authors.initials: M
authors.lastname: Abrahamson
mesh_terms: D000409:Alanine / Q000235:genetics; D000483:Alleles; D001483:Base Sequence; D016657:Cerebral Amyloid Angiopathy / Q000235:genetics*; D002890:Chromosomes, Human, Pair 20; D055316:Cystatin C; D015891:Cystatins / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific; D005787:Gene Frequency; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013912:Threonine / Q000235:genetics
chemical_list: C525030:CST3 protein, human; D055316:Cystatin C; D015891:Cystatins; D013912:Threonine; C024408:endodeoxyribonuclease SacI; D015252:Deoxyribonucleases, Type II Site-Specific; D000409:Alanine