title: Prenatal diagnosis of haemophilia A by factor VIII gene analysis.
abstract: Cloned factor VIII deoxyribose nucleic acid (DNA) sequences were used as probes in the prenatal diagnosis of haemophilia A. Fetal DNA from cultured amniotic fluid cells was examined for a DNA polymorphism within the factor VIII gene which marked the haemophilia A gene in the pregnant obligate carrier. The fetus was predicted to be an affected male, and the diagnosis of haemophilia A was confirmed both in utero and after termination of the pregnancy.
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: K L
authors.initials: KL
authors.lastname: Copeland
authors.forename: R J
authors.initials: RJ
authors.lastname: Carpenter
authors.forename: C A
authors.initials: CA
authors.lastname: Carta
authors.forename: L W
authors.initials: LW
authors.lastname: Hoyer
authors.forename: C T
authors.initials: CT
authors.lastname: Caskey
authors.forename: J J
authors.initials: JJ
authors.lastname: Toole
authors.forename: H H
authors.initials: HH
authors.lastname: Kazazian
mesh_terms: D000328:Adult; D001345:Autoradiography; D004247:DNA / Q000032:analysis; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005796:Genes; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005819:Genetic Markers; D005169:Factor VIII; D004247:DNA