title: Utility of a (GT) dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia A carrier diagnosis.
abstract: We report the usefulness of a dinucleotide GT repeat in intron 1 of the factor 8 gene in carrier diagnosis of haemophilia A (HA). We analyzed 47 women from HA families in which the mutation was not identified in the index case and in which the common intragenic polymorphic markers were uninformative. The intron 1 GT repeat was useful to identify the X chromosome with the mutation in 19 of them. The analysis of this easily detectable marker in conjunction with other current markers may facilitate X chromosome identification in a large proportion of HA families.
authors.affiliation: Department of Genetics, Hospital of Sant Pau, Barcelona, Spain. etizzano@hsp.santpau.es
authors.forename: E
authors.initials: E
authors.lastname: Tizzano
authors.forename: A
authors.initials: A
authors.lastname: Venceslá
authors.forename: M
authors.initials: M
authors.lastname: Cornet
authors.forename: M
authors.initials: M
authors.lastname: Baena
authors.forename: M
authors.initials: M
authors.lastname: Baiget
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*; D006579:Heterozygote; D006801:Humans; D047668:Inteins / Q000235:genetics*
chemical_list: D005169:Factor VIII