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

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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.

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Subject classification (UKÄ) – MANDATORY

  • Medicinal Chemistry
  • Pharmacology and Toxicology
Original languageEnglish
Pages (from-to)471-476
JournalBiological Chemistry Hoppe-Seyler
Volume373
Issue number7
Publication statusPublished - 1992
Publication categoryResearch
Peer-reviewedYes