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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
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
2008-07-31 09:44:47
date last changed
2017-01-01 07:25:36
@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},
}