Linked Life Data

12413589

Source:http://linkedlifedata.com/resource/pubmed/id/12413589

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2002-11-4
pubmed:abstractText
Fifteen patients from five families with laboratory data suggesting factor X (FX) deficiency were screened for causative mutations by conformation sensitive gel electrophoresis (CSGE) followed by sequencing. All exonic and flanking intronic regions of factor X gene were amplified using PCR. After heteroduplex formation, samples were analyzed onto a polyacrylamide gel for possible mismatch. An abnormal CSGE profile indicating an heteroduplex was identified in 10/15 cases. All the 10 patients with a patter of migration suggesting a mismatch had a laboratoristic pattern of FX deficiency whereas the five cases with a normal CSGE aspect referred to the normal components of the families who did not carry any FX defect. Sequencing demonstrated that the 10 exons, which showed a suspect CSGE pattern, harbored a mutation responsible for the factor X defect. Of the five mutation identified, two were recognized to be novel mutations (a 871C>T substitution and a 1169G>T transversion in exon 8), both located in the catalytic portion of FX. CSGE may be an effective and simple procedure for screening factor X gene mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0049-3848
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
107
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
51-4
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Conformation sensitive gel electrophoresis for detection of factor X gene mutations.
pubmed:affiliation
Department of Medical and Surgical Sciences, Second Chair of Medicine, University of Padua Medical School, via Ospedale, 105, 35100, Padua, Italy. fabvian@unipd.it
pubmed:publicationType
Journal Article, Evaluation Studies