title: A-793 G to A transition in the factor IX gene promoter is polymorphic in the Caucasian population.
abstract: We report the incidence of a prevalent polymorphism at position -703 in the promoter region of the factor IX gene in caucasian individuals. This DNA change was originally reported as one of two changes in the factor IX gene of a severely affected haemophilia B patient from Japan. We confirm the neutral nature of this change and demonstrate that, despite showing linkage disequilibrium with the previously reported Msel RFLP < 100 bp distant, the use of these two loci together in a carrier screening strategy significantly increases the level of informativity over the achieved using either polymorphism alone.
authors.affiliation: University Department of Medicine and Pharmacology, Royal Hallamshire Hospital, Sheffield.
authors.forename: H K
authors.initials: HK
authors.lastname: Rai
authors.forename: P R
authors.initials: PR
authors.lastname: Winship
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D005164:Factor IX / Q000235:genetics*; D005260:Female; D005838:Genotype; D002836:Hemophilia B / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D044465:White People
chemical_list: D017931:DNA Primers; D015345:Oligonucleotide Probes; D005164:Factor IX