title: Identification of a new CA dinucleotide repeat in the human factor VIII gene.
abstract: We describe the identification of a new CA dinucleotide repeat marker for the diagnosis of haemophilia A carriers. The marker (CA-6) is present in intron 6 as a single copy 5 kb upstream of exon 7. Of 195 and 118 X chromosomes from normal individuals and haemophilia A patients, respectively, we observed three alleles of CA-6 with 12-14 repetitions [(CA)(12-14)]. The frequencies were 0.5% and 0% for (CA)(12), 99% and 95.8% for (CA)(13), and 0.5% and 4.2% for (CA)(14) in normals and patients respectively. We conclude that the low polymorphism of the CA-6 marker renders it less useful for the diagnosis of Chinese haemophilia A carriers.
authors.affiliation: Institute of Molecular Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: S R
authors.initials: SR
authors.lastname: Lin
authors.forename: S W
authors.initials: SW
authors.lastname: Lin
authors.forename: Y C
authors.initials: YC
authors.lastname: Hsu
authors.forename: M C
authors.initials: MC
authors.lastname: Shen
mesh_terms: D015139:Blotting, Southern; D016022:Case-Control Studies; D002681:China; D018900:Dinucleotide Repeats; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction
chemical_list: D005819:Genetic Markers; D005169:Factor VIII