Demonstration of sequence variations in the promoter region of the human cystatin C gene

Biol Chem Hoppe Seyler. 1992 Jul;373(7):471-6. doi: 10.1515/bchm3.1992.373.2.471.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cloning, Molecular
  • Cystatin C
  • Cystatins / genetics*
  • DNA, Recombinant
  • Electrophoresis, Agar Gel
  • Gene Amplification
  • Molecular Sequence Data
  • Mutation
  • Oligonucleotides / analysis
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Promoter Regions, Genetic*

Substances

  • CST3 protein, human
  • Cystatin C
  • Cystatins
  • DNA, Recombinant
  • Oligonucleotides