The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20
(1989) In Human Genetics 82(3). p.223-226- 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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1104879
- author
- Abrahamson, Magnus LU ; Islam, M Quamrul ; Szpirer, Josiane ; Szpirer, Claude and Levan, Göran
- organization
- publishing date
- 1989
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Human Genetics
- volume
- 82
- issue
- 3
- pages
- 223 - 226
- publisher
- Springer
- external identifiers
-
- scopus:0024338979
- ISSN
- 1432-1203
- DOI
- 10.1007/BF00291159
- language
- English
- LU publication?
- yes
- id
- 6013509c-1a95-44fd-a006-53140d1d95ac (old id 1104879)
- date added to LUP
- 2016-04-01 15:54:57
- date last changed
- 2021-10-10 03:09:00
@article{6013509c-1a95-44fd-a006-53140d1d95ac, 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.}}, author = {{Abrahamson, Magnus and Islam, M Quamrul and Szpirer, Josiane and Szpirer, Claude and Levan, Göran}}, issn = {{1432-1203}}, language = {{eng}}, number = {{3}}, pages = {{223--226}}, publisher = {{Springer}}, series = {{Human Genetics}}, title = {{The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20}}, url = {{http://dx.doi.org/10.1007/BF00291159}}, doi = {{10.1007/BF00291159}}, volume = {{82}}, year = {{1989}}, }