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

Magnus Abrahamson, M Quamrul Islam, Josiane Szpirer, Claude Szpirer, Göran Levan

Research output: Contribution to journalArticlepeer-review

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 fulllength 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.
Original languageEnglish
Pages (from-to)223-226
JournalHuman Genetics
Volume82
Issue number3
DOIs
Publication statusPublished - 1989

Subject classification (UKÄ)

  • Medical Genetics

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