The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy,is located on chromosome 20 |
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| Authors: | Magnus Abrahamson M Quamrul Islam Josiane Szpirer Claude Szpirer Göran Levan |
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| Institution: | (1) Department of Clinical Chemistry, University of Lund, Malmö General Hospital, S-21401 Malmö, Sweden;(2) Department of Genetics, University of Göteborg, Box 33031, S-40033 Göteborg, Sweden;(3) Départment de Biologie Moleculaire, Université Libre de Bruxelles, 67, Rue des Chevaux, B-1640 Rhode-St-Genèse, Belgium |
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| Abstract: | Summary 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. |
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