title: Demonstration of sequence variations in the promoter region of the human cystatin C gene.
abstract: Four point mutations in the promoter region of the human cystatin C gene have been detected by direct sequencing of polymerase chain reaction (PCR) amplified DNA. The four base changes are all localized within a short segment of 85 base pairs. Three cystatin C gene alleles could be defined with respect to these promoter mutations; one with the sequence previously published, one carrying three of the mutations and one with all four base substitutions. Two of the observed mutations are involved in a novel Sst II polymorphism and another generates a new Dde I restriction site. A PCR-based assay for analysis of these Sst II and Dde I sites was designed and used to demonstrate Mendelian inheritance of the polymorphisms as well as to determine the frequencies of the cystatin C gene alleles in the population.
authors.affiliation: Department of Clinical Chemistry, University of Lund, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Balbin
authors.forename: A
authors.initials: A
authors.lastname: Grubb
authors.forename: M
authors.initials: M
authors.lastname: Abrahamson
mesh_terms: D001483:Base Sequence; D003001:Cloning, Molecular; D055316:Cystatin C; D015891:Cystatins / Q000235:genetics*; D004274:DNA, Recombinant; D004587:Electrophoresis, Agar Gel; D005784:Gene Amplification; D008969:Molecular Sequence Data; D009154:Mutation; D009841:Oligonucleotides / Q000032:analysis; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
chemical_list: C525030:CST3 protein, human; D055316:Cystatin C; D015891:Cystatins; D004274:DNA, Recombinant; D009841:Oligonucleotides