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

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Author

Summary, in English

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.

Publishing year

1992

Language

English

Pages

471-476

Publication/Series

Biological Chemistry Hoppe-Seyler

Volume

373

Issue

7

Document type

Journal article

Publisher

De Gruyter

Topic

  • Medicinal Chemistry
  • Pharmacology and Toxicology

Status

Published

ISBN/ISSN/Other

  • ISSN: 0177-3593