Linked Life Data

1682236

Source:http://linkedlifedata.com/resource/pubmed/id/1682236

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1991-12-3
pubmed:databankReference
pubmed:abstractText
By direct sequencing of polymerase chain reaction (PCR) amplified DNA from different individuals, three points 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 85bp 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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
87
pubmed:geneSymbol
CST3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
751-2
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
SstII polymorphic sites in the promoter region of the human cystatin C gene.
pubmed:affiliation
Department of Clinical Chemistry, University of Lund, University Hospital, Sweden.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't