Demonstration of sequence variations in the promoter region of the human cystatin C gene
(1992) In Biological Chemistry Hoppe-Seyler 373(7). p.471-476- Abstract
- Four point mutations in the promoter region of the human cystatin C gene have been detected by direct sequencing of polymerase chain reaction (PCR) amplified DNA. The four base changes are all localized within a short segment of 85 base pairs. Three cystatin C gene alleles could be defined with respect to these promoter mutations; one with the sequence previously published, one carrying three of the mutations and one with all four base substitutions. Two of the observed mutations are involved in a novel Sst II polymorphism and another generates a new Dde I restriction site. A PCR-based assay for analysis of these Sst II and Dde I sites was designed and used to demonstrate Mendelian inheritance of the polymorphisms as well as to determine... (More)
- Four point mutations in the promoter region of the human cystatin C gene have been detected by direct sequencing of polymerase chain reaction (PCR) amplified DNA. The four base changes are all localized within a short segment of 85 base pairs. Three cystatin C gene alleles could be defined with respect to these promoter mutations; one with the sequence previously published, one carrying three of the mutations and one with all four base substitutions. Two of the observed mutations are involved in a novel Sst II polymorphism and another generates a new Dde I restriction site. A PCR-based assay for analysis of these Sst II and Dde I sites was designed and used to demonstrate Mendelian inheritance of the polymorphisms as well as to determine the frequencies of the cystatin C gene alleles in the population. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1106871
- author
- Balbín, M ; Grubb, Anders LU and Abrahamson, Magnus LU
- organization
- publishing date
- 1992
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Biological Chemistry Hoppe-Seyler
- volume
- 373
- issue
- 7
- pages
- 471 - 476
- publisher
- De Gruyter
- external identifiers
-
- scopus:0026892633
- ISSN
- 0177-3593
- language
- English
- LU publication?
- yes
- id
- e3230567-268c-4d56-bae5-5dbf36914cc8 (old id 1106871)
- date added to LUP
- 2016-04-01 17:08:58
- date last changed
- 2021-01-03 04:39:01
@article{e3230567-268c-4d56-bae5-5dbf36914cc8, abstract = {{Four point mutations in the promoter region of the human cystatin C gene have been detected by direct sequencing of polymerase chain reaction (PCR) amplified DNA. The four base changes are all localized within a short segment of 85 base pairs. Three cystatin C gene alleles could be defined with respect to these promoter mutations; one with the sequence previously published, one carrying three of the mutations and one with all four base substitutions. Two of the observed mutations are involved in a novel Sst II polymorphism and another generates a new Dde I restriction site. A PCR-based assay for analysis of these Sst II and Dde I sites was designed and used to demonstrate Mendelian inheritance of the polymorphisms as well as to determine the frequencies of the cystatin C gene alleles in the population.}}, author = {{Balbín, M and Grubb, Anders and Abrahamson, Magnus}}, issn = {{0177-3593}}, language = {{eng}}, number = {{7}}, pages = {{471--476}}, publisher = {{De Gruyter}}, series = {{Biological Chemistry Hoppe-Seyler}}, title = {{Demonstration of sequence variations in the promoter region of the human cystatin C gene}}, volume = {{373}}, year = {{1992}}, }