Linked Life Data

21305775

Source:http://linkedlifedata.com/resource/pubmed/id/21305775

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2011-2-9
pubmed:abstractText
Haemophilia A and B are considered sex-linked inherited diseases caused by mutations in genes that encode factors VIII and IX, respectively. This results in the deficiency of these proteins plasma levels which are actively involved in the mechanism of blood coagulation. It has been reported that several mutations are responsible for the alteration of these genes, which is why the application of a molecular diagnostic method for the direct identification of female carriers is impractical. An appropriate diagnostic strategy is the indirect analysis of polymorphisms linked to the gene. The aim of this study was to identify female carriers in different families with history of HA and HB that live in Zulia State, Venezuela, characterizing intragenic gene polymorphisms of the clotting factors VIII and IX, which helped to identify and assign haplotypes, to diagnose or to exclude the carrying condition, to 95% of women who were needing the study for HA and to 100% for HB.
pubmed:language
spa
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0535-5133
pubmed:author
pubmed:issnType
Print
pubmed:volume
51
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
391-401
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
[Intragenic polymorphisms of factor VIII and IX genes and their utility in the indirect diagnosis of carriers of Haemophilias A and B].
pubmed:affiliation
Laboratorio de Genética Molecular, Unidad de Genética, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venzuela. lisbethborjas@gmail.com
pubmed:publicationType
Journal Article, English Abstract