title: Genomic diagnosis of haemophilia A and B in the German Democratic Republic.
abstract: Since 1986 the genomic diagnosis of haemophilia A and B in the GDR is realized as a national programme. Until Aug. 1989 56 families at risk of haemophilia A are analysed using RFLPs of different intragenic and intergenic probes (BclI/F8e 16-19, KpnI-XbaI/int 22, TaqI/St 14.1). 117 out of 162 females at risk being heterozygous were identified as carriers, in 40 cases the carrier state was excluded, and in 5 females the data were not informative. Prenatal diagnosis was offered to 93 carriers in reproductive age. Six genomic prenatal diagnoses in haemophilia A were performed. In four patients different partial deletions of factor VIII:C gene were found. 10 families of haemophilia B were analysed using intragenic and intergenic probes (P 1; pX58dIIIc). 14 females were identified as carriers, 11 were excluded. The application of direct and indirect gene diagnosis in haemophilia is discussed.
authors.affiliation: Institute of Medical Genetics Ernst-Moritz-Arndt-University, Greifswald, GDR.
authors.forename: F H
authors.initials: FH
authors.lastname: Herrmann
authors.forename: M
authors.initials: M
authors.lastname: Wehnert
authors.forename: W
authors.initials: W
authors.lastname: Schröder
mesh_terms: D002872:Chromosome Deletion; D005091:Exons; D005164:Factor IX / Q000235:genetics; D005169:Factor VIII / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005838:Genotype; D005859:Germany, East; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015183:Restriction Mapping
chemical_list: D005169:Factor VIII; D005164:Factor IX