SstII polymorphic sites in the promoter region of the human cystatin C gene.
By direct sequencing of polymerase chain reaction (PCR) amplified DNA from different individuals, three points mutations have been found in a 220-bp fragment from the promoter region of the human cystatin C gene. The three mutations are all localized within a short segment of 85bp on the same allele. One of the base substitutions results in the generation of a novel SstII restriction site and another in the loss of the commonly occurring SstII restriction site. A PCR-based assay for analysis of the two SstII sites was designed and used to demonstrate Mendelian inheritance of the polymorphism. This SstII restriction fragment lenght polymorphism offers a new probe-independent marker for chromosome 20 linkage studies.
Department of Clinical Chemistry, University of Lund, University Hospital, Sweden.
M
M
Balbín
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M
Abrahamson
D001483:Base Sequence; D055316:Cystatin C; D015891:Cystatins / Q000235:genetics*; D004247:DNA; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; 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; D004247:DNA; C035337:CCGCGG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific