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.

• Author: Magnus Abrahamson; M Quamrul Islam; Josiane Szpirer; Claude Szpirer; Göran Levan
• Department/s: Division of Clinical Chemistry and Pharmacology
• Publishing year: 1989
• Language: English
• Pages: 223-226
• Publication/Series: Human Genetics
• Volume: 82
• Issue: 3
• Links: http://dx.doi.org/10.1007/BF00291159
• Document type: Journal article
• Publisher: Springer
• Topic: Medical Genetics
• Status: Published
• ISBN/ISSN/Other: ISSN: 1432-1203