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Sst II polymorphic sites in the promoter region of the human cystatin C gene

Balbin, Milagros and Abrahamson, Magnus LU orcid (1991) In Human Genetics 87(6). p.751-752
Abstract
By direct sequencing of polymerase chain reaction (PCR) amplified DNA from different individuals, three point mutations have been found in a 220-bp fragment from the promoter region of the human cystatin C gene. The three mutations are all localized within a short segment of 85 bp on the same allele. One of the base substitutions results in the generation of a novel SstII restriction site and another in the loss of the commonly occurring SstII restriction site. A PCR-based assay for analysis of the two SstII sites was designed and used to demonstrate Mendelian inheritance of the polymorphism. This SstII restriction fragment lenght polymorphism offers a new probe-independent marker for chromosome 20 linkage studies.
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author
and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Human Genetics
volume
87
issue
6
pages
751 - 752
publisher
Springer
external identifiers
  • scopus:0026245217
ISSN
1432-1203
DOI
10.1007/BF00201742
language
English
LU publication?
yes
id
0e825f3a-6c9d-4d1c-8d84-c36d5e42b88d (old id 1106109)
date added to LUP
2016-04-01 16:03:42
date last changed
2025-10-14 10:12:01
@article{0e825f3a-6c9d-4d1c-8d84-c36d5e42b88d,
  abstract     = {{By direct sequencing of polymerase chain reaction (PCR) amplified DNA from different individuals, three point mutations have been found in a 220-bp fragment from the promoter region of the human cystatin C gene. The three mutations are all localized within a short segment of 85 bp on the same allele. One of the base substitutions results in the generation of a novel SstII restriction site and another in the loss of the commonly occurring SstII restriction site. A PCR-based assay for analysis of the two SstII sites was designed and used to demonstrate Mendelian inheritance of the polymorphism. This SstII restriction fragment lenght polymorphism offers a new probe-independent marker for chromosome 20 linkage studies.}},
  author       = {{Balbin, Milagros and Abrahamson, Magnus}},
  issn         = {{1432-1203}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{751--752}},
  publisher    = {{Springer}},
  series       = {{Human Genetics}},
  title        = {{Sst II polymorphic sites in the promoter region of the human cystatin C gene}},
  url          = {{http://dx.doi.org/10.1007/BF00201742}},
  doi          = {{10.1007/BF00201742}},
  volume       = {{87}},
  year         = {{1991}},
}