[DNA diagnostics in hemophilia A and B].
Carrier detection and prenatal diagnosis of hemophilia A and B are possible with cloned factor-VIII:C- and factor-IX-gene-specific or linked probes which detect restriction fragment length polymorphisms (RFLPs). In this study, 12 hemophilia-A- and 5 hemophilia-B-families were studied to identify carriers and provide adequate genetic counselling to women who were heterozygous for one or more of the intragenic or linked DNA probes with respect to future pregnancies.
Alkan
M
M
Universitäts-Kinderklinik Basel.
Malik
N J
NJ
Borer
U V
UV
Müller
H
H
Bühler
E M
EM
D000328:Adult; D001345:Autoradiography; D002648:Child; D005164:Factor IX / Q000235:genetics; D005167:Factor VII / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers / Q000032:analysis*; D006467:Hemophilia A / Q000235:genetics*; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree
D005819:Genetic Markers; D005167:Factor VII; D005164:Factor IX
DNA-Diagnostik bei Hämophilie A und B.