Advanced

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

Balbin, Milagros and Abrahamson, Magnus LU (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.
Please use this url to cite or link to this publication:
author
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
2008-08-01 09:58:00
date last changed
2017-01-01 06:54:28
@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},
  volume       = {87},
  year         = {1991},
}