PCR assay for a polymorphic DdeI site in the promoter region of the human cystatin C gene

M Balbín; M Abrahamson

doi:10.1007/BF02265308

PCR assay for a polymorphic DdeI site in the promoter region of the human cystatin C gene

Hum Genet. 1992 Mar;88(6):710. doi: 10.1007/BF02265308.

Authors

M Balbín¹, M Abrahamson

Affiliation

¹ Department of Clinical Chemistry, University of Lund, University Hospital, Sweden.

PMID: 1348051
DOI: 10.1007/BF02265308

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Chromosomes, Human, Pair 20
Cystatin C
Cystatins / genetics*
Gene Frequency
Humans
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length*
Promoter Regions, Genetic*

Substances

CST3 protein, human
Cystatin C
Cystatins