The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20

Hum Genet. 1989 Jun;82(3):223-6. doi: 10.1007/BF00291159.

Abstract

Hereditary cystatin C amyloid angiopathy has recently been shown to be caused by a point mutation in the cystatin C gene. To determine the chromosomal localization of the gene, 20 human-rodent somatic cell hybrids and a full-length cystatin C cDNA probe were used. Southern blot analysis of BamHI digested cell hybrid DNA revealed that the probe recognizes a 10.6 kb human specific fragment and that this fragment cosegregates with human chromosome 20. Therefore, the human cystatin C gene (CST3) was assigned to chromosome 20.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloidosis / enzymology
  • Amyloidosis / genetics*
  • Animals
  • Blotting, Southern
  • Cerebral Arterial Diseases / enzymology
  • Cerebral Arterial Diseases / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 20*
  • Cystatin C
  • Cystatins*
  • DNA / genetics
  • DNA Probes
  • Humans
  • Hybrid Cells
  • Mice
  • Mutation*
  • Polymorphism, Restriction Fragment Length
  • Protease Inhibitors / genetics*
  • Proteins / genetics*
  • Rats

Substances

  • CST3 protein, human
  • Cst3 protein, mouse
  • Cst3 protein, rat
  • Cystatin C
  • Cystatins
  • DNA Probes
  • Protease Inhibitors
  • Proteins
  • DNA