title: Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers.
abstract: The polymerase chain reaction procedure (PCR) was used to detect a polymorphic Hha I site adjacent to the factor IX locus in a panel of 33 phenotypically normal caucasian individuals. This technique was also applied to a haemophilia B family pedigree. The Hha I polymorphic site was located 8 kb 3' to the factor IX gene, and the proportion of female subjects expected to be heterozygous at this site was 0.48. The Hha I locus was in linkage equilibrium with the other polymorphic loci on the factor IX gene. These findings, besides increasing the proportion of caucasian individuals whose haemophilia B carrier state can be diagnosed from 79% to 89%, demonstrate this widely applicable use of PCR for the detection of DNA polymorphism at cytosine phosphoguanadine dinucleotides irrespective of the methylation status.
authors.affiliation: Sir William Dunn School of Pathology, Oxford, UK.
authors.forename: P R
authors.initials: PR
authors.lastname: Winship
authors.forename: D J
authors.initials: DJ
authors.lastname: Rees
authors.forename: M
authors.initials: M
authors.lastname: Alkan
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004259:DNA-Directed DNA Polymerase; D015226:Dinucleoside Phosphates / Q000235:genetics*; D005164:Factor IX / Q000032:analysis / Q000235:genetics; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic
chemical_list: D004259:DNA-Directed DNA Polymerase; D015226:Dinucleoside Phosphates; D005164:Factor IX; D005819:Genetic Markers; C015772:CpG dinucleotide