PCR assay for a polymorphic DdeI site in the promoter region of the human cystatin C gene.
A new DNA variant in the promoter region of the human cystatin C gene has been detected by direct sequencing. The base substitution generates a new DdeI restriction site, thus allowing the design of a rapid polymerase chain reaction assay for analysis of this polymorphism in the population.
Balbín
M
M
Department of Clinical Chemistry, University of Lund, University Hospital, Sweden.
Abrahamson
M
M
D001483:Base Sequence; D002890:Chromosomes, Human, Pair 20; D055316:Cystatin C; D015891:Cystatins / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic
C525030:CST3 protein, human; D055316:Cystatin C; D015891:Cystatins