title: Application of intron 9 and intron 25 dinucleotide repeats of the factor VIII gene for carrier diagnosis in haemophilia A.
abstract: 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.affiliation: Department of Genetics and Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, University Hospital Sant Pau, Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Venceslá
authors.forename: M
authors.initials: M
authors.lastname: Baena
authors.forename: L
authors.initials: L
authors.lastname: Fares Taie
authors.forename: M
authors.initials: M
authors.lastname: Cornet
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: E F
authors.initials: EF
authors.lastname: Tizzano
mesh_terms: D001483:Base Sequence; D041321:Chromosomes, Human, X / Q000235:genetics; D018900:Dinucleotide Repeats / Q000235:genetics*; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006580:Genetic Carrier Screening / Q000379:methods; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007438:Introns; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D013030:Spain
chemical_list: D005169:Factor VIII