title: [Diagnosis of hemophilia A carrier state using analysis of intergenic and intergenic polymorphism of factor VIII gene].
abstract: Carrier state of haemophilia A was assessed in women at risk by using Bcl I polymorphism of factor VIII gene in intron 18, CA repeating sequence polymorphism in intron 13, and intergenic polymorphism at DXS52 locus. Appropriate fragments of DNA in intron 18 and 13 were amplified by PCR. Polymorphism at DXS52 locus was determined by the method of Southern after digesting DNA with endonuclease Taq I and employing F814 and ST14-1 probes. The diagnosis of carrier state of haemophilia A was made in 12 women from 9 families.
authors.affiliation: Z Zakładu Biochemii Instytutu Hematologii i Transfuzjologii w Warszawie.
authors.forename: J
authors.initials: J
authors.lastname: Sawecka
authors.forename: P
authors.initials: P
authors.lastname: Strzyga
authors.forename: A
authors.initials: A
authors.lastname: Klukowska
authors.forename: R
authors.initials: R
authors.lastname: Rokicka-Milewska
authors.forename: J
authors.initials: J
authors.lastname: Kościelak
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D015342:DNA Probes; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007438:Introns; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D015342:DNA Probes; D005169:Factor VIII