title: [Detection of the heterozygote carrier state and prenatal diagnosis of hemophilia A using DNA probes].
abstract: Southern blot analysis of DNA samples from 110 persons related to 30 high risk hemophilia A families was carried out using intergenic probe St-14 and intergenic probes p 51-61 and p 1.8. Thirty-five hemophilia A patients, 24--their mothers--obligatory carriers and 51 close proband relatives were studied altogether. 16 female proband relatives were diagnosed as hemophilia A carriers, hemophilia A heterozygosity was rejected in three persons. Twenty five families were found to be at risk for prenatal hemophilia A diagnosis. One case of hemophilia A diagnosis in a 10-week fetus has been presented.
authors.forename: M V
authors.initials: MV
authors.lastname: Aseev
authors.forename: T E
authors.initials: TE
authors.lastname: Ivashchenko
authors.forename: V N
authors.initials: VN
authors.lastname: Gorbunova
authors.forename: T A
authors.initials: TA
authors.lastname: Andreeva
authors.forename: P V
authors.initials: PV
authors.lastname: Khrolova
mesh_terms: D015139:Blotting, Southern; D015342:DNA Probes / Q000032:analysis; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D015342:DNA Probes
vernacular_title: Vyiavlenie geterozigotnogo nositel'stva i prenatal'naia diagnostika gemofilii A pri pomoshchi DNK-zondov.