Linked Life Data

8713786

Source:http://linkedlifedata.com/resource/pubmed/id/8713786

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1997-2-25
pubmed:abstractText
We used a polymerase chain reaction (PCR) strategy and restriction fragment polymorphism analysis to evaluate all 19 exons of the plasminogen (PLG) gene in a Japanese patient with congenital PLG deficiency and her family members (family C). Sequence analysis following amplification of each exon and its flanking regions showed a single G to A transition in exon 17, resulting in the conversion of an Ala675 codon (GCT) to Thr675 codon (ACT). Since this mutation generates a new Mae III site, the Mae III digestion patterns of the PCR-amplified exon 17 fragments from each family member were analyzed. In all cases, the patterns correlated with the activities and antigen levels of plasma PLG in those members. The identical G to A transition in the same codon of exon 17 was detected by a Mae III digestion experiment in another proband and her family members with congenital PLG deficiency (family K). Furthermore, 20 normal individuals examined had no Mae III restriction site at this location. We conclude that a G to A transition in exon 17 is responsible for the congenital PLG deficiency inherited in these two Japanese families.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0340-6245
pubmed:author
pubmed:issnType
Print
pubmed:volume
75
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
96-100
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
A novel missense mutation in two families with congenital plasminogen deficiency: identification of an Ala675 to Thr675 substitution.
pubmed:affiliation
First Department of Internal Medicine, University of Tokushima, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't