title: The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence -561. The BamHI/MSPI haplotypes in blacks and Caucasians.
abstract: The polymerase chain reaction (PCR) method was used to amplify a 356-bp DNA segment containing the suspected BamHI polymorphic site of the factor IX gene. Following the enzyme digestions and gel electrophoresis, polymorphic genotypes (-,+ and +/- types) were observed. The gene frequencies for the rare (+) allele are about 36% in blacks and 2% in Caucasians. The 356-bp DNA was further purified and sequenced. The sequencing gels revealed a single nucleotide substitution (T to G) at position -561 of the gene in blacks and Caucasians. The T-to-G transversion generated a new BamHI site (GGATCC,+type) from a nonenzymatic site, (TGATCC,-type).
authors.affiliation: Department of Pediatrics, University of Washington, Seattle 98195.
authors.forename: M
authors.initials: M
authors.lastname: Zhang
authors.forename: S H
authors.initials: SH
authors.lastname: Chen
authors.forename: C R
authors.initials: CR
authors.lastname: Scott
authors.forename: A R
authors.initials: AR
authors.lastname: Thompson
mesh_terms: D001483:Base Sequence; D044383:Black People / Q000235:genetics*; D004259:DNA-Directed DNA Polymerase; D015245:Deoxyribonuclease BamHI; D005164:Factor IX / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D044465:White People
chemical_list: D005164:Factor IX; D004259:DNA-Directed DNA Polymerase; D015245:Deoxyribonuclease BamHI