[New possibilities of heterozygote detection of hemophilia A].
Hemophilia A is the most common inherited bleeding disorder in man. The recent isolation of the hemophilia gene has led to the identification of an intragenic restriction fragment length polymorphism (RFLP) which can be used for segregation analysis in families at risk for carrying the disease. In addition, a tightly linked extragenic RFLP can also be used for these analyses. In this paper, we exemplify the usefulness of DNA analysis in genetic counseling of families at risk for hemophilia A. Although DNA analysis allows carrier detection in the majority of families, bioassays are still required for accurate diagnosis when DNA analysis is not informative.
D004247:DNA / Q000235:genetics; D005169:Factor VIII / Q000235:genetics; D006580:Genetic Carrier Screening; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D005169:Factor VIII; D004247:DNA
Neue Möglichkeiten in der Konduktorinnendiagnostik der Hämophilie A.