Prenatal diagnosis of haemophilia A by factor VIII gene analysis.

Autor: Antonarakis SE, Copeland KL, Carpenter RJ Jr, Carta CA, Hoyer LW, Caskey CT, Toole JJ, Kazazian HH Jr
Jazyk: angličtina
Zdroj: Lancet (London, England) [Lancet] 1985 Jun 22; Vol. 1 (8443), pp. 1407-9.
DOI: 10.1016/s0140-6736(85)91842-2
Abstrakt: 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.
Databáze: MEDLINE