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

Summary, in English

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.

• Författare: Magnus Abrahamson; M Quamrul Islam; Josiane Szpirer; Claude Szpirer; Göran Levan
• Avdelning/ar: Avdelningen för klinisk kemi och farmakologi
• Publiceringsår: 1989
• Språk: Engelska
• Sidor: 223-226
• Publikation/Tidskrift/Serie: Human Genetics
• Volym: 82
• Issue: 3
• Länkar: http://dx.doi.org/10.1007/BF00291159
• Dokumenttyp: Artikel i tidskrift
• Förlag: Springer
• Ämne: Medical Genetics
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 1432-1203