Document Detail


Application of intron 9 and intron 25 dinucleotide repeats of the factor VIII gene for carrier diagnosis in haemophilia A.
MedLine Citation:
PMID:  18384354     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe the usefulness of two dinucleotide repeats located in intron 9 and in intron 25 of the factor VIII gene for carrier diagnosis of haemophilia A. We analyzed 100 unrelated Spanish women and 34 women from haemophilia A (HA) families in whom known intragenic markers were unhelpful in determining their carrier status. The heterozygosity rate of intron 9 and intron 25 markers in the 100 control women was lower (0.28 and 0.38, respectively) than the values obtained with common markers routinely used in our laboratory. However, the application of intron 9 and intron 25 markers was effective in identifying the at-risk X chromosome in 11 of 34 (32%) of the uninformative women from HA families. The combined use of these repeats with current markers may facilitate the identification of the X chromosome in HA families for application in carrier, prenatal and pre-implantation diagnoses.
Authors:
A Venceslá; M Baena; L Fares Taie; M Cornet; M Baiget; E F Tizzano
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-04-01
Journal Detail:
Title:  Haemophilia : the official journal of the World Federation of Hemophilia     Volume:  14     ISSN:  1365-2516     ISO Abbreviation:  Haemophilia     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-05-01     Completed Date:  2008-12-31     Revised Date:  2009-10-21    
Medline Journal Info:
Nlm Unique ID:  9442916     Medline TA:  Haemophilia     Country:  England    
Other Details:
Languages:  eng     Pagination:  489-93     Citation Subset:  IM    
Affiliation:
Department of Genetics and Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, University Hospital Sant Pau, Barcelona, Spain.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosomes, Human, X / genetics
Dinucleotide Repeats / genetics*
Factor VIII / genetics*
Female
Gene Frequency / genetics
Hemophilia A / diagnosis,  genetics*
Heterozygote Detection / methods
Humans
Introns*
Polymerase Chain Reaction
Pregnancy
Prenatal Diagnosis / methods
Spain
Chemical
Reg. No./Substance:
9001-27-8/Factor VIII

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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