title: Diagnosis of carriers of haemophilia A by RFLP analysis: Austrian results.
abstract: RFLP analysis with extragenic and intragenic probes was performed in 25 Austrian families with haemophilia A for the purpose of carrier diagnosis. Diagnosis could be established in 22 families, in 7 families with intragenic and extragenic probes, in 15 families with extragenic probes only. The remaining 3 families were not informative. During routine diagnosis we found three interesting cases which are described in the following paper. Firstly, we identified one deletion with Bcl I/p 114.12. Secondly, we observed an additional polymorphic band (5.2 kb) with Xba I/probe A. Thirdly, we saw one case where Bcl I/p 114.12 and Bgl I/1.8 were not in linkage disequilibrium.
authors.affiliation: 1. Department Medicine, University Vienna, Austria.
authors.forename: C
authors.initials: C
authors.lastname: Mannhalter
authors.forename: R
authors.initials: R
authors.lastname: Neidhart
authors.forename: K
authors.initials: K
authors.lastname: Lechner
mesh_terms: D001317:Austria; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome
chemical_list: D015342:DNA Probes