Prenatal diagnosis of haemophilia A by factor VIII gene analysis.
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.
Antonarakis
S E
SE
Copeland
K L
KL
Carpenter
R J
RJ
Carta
C A
CA
Hoyer
L W
LW
Caskey
C T
CT
Toole
J J
JJ
Kazazian
H H
HH
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
D005819:Genetic Markers; D005169:Factor VIII; D004247:DNA