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Demonstration of sequence variations in the promoter region of the human cystatin C gene

Balbín, M ; Grubb, Anders LU and Abrahamson, Magnus LU (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)
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author
; and
organization
publishing date
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}},
}