[Molecular genetic studies in the von Willebrand's syndrome].
The successful cloning of the von Willebrand (vW) gene in 1985 and the production of gene probes stimulated a number of molecular genetic patient studies. It turned out that even in the case of patients with severe vW syndrome gross delections were only rarely found. We could not identify a deletion in the eight severe vW patients studied. Thus, at the moment it is not possible to directly demonstrate the genetic defect in vW patients. However, a number of restriction fragment length polymorphisms (RFLPs) within the vW gene were identified. They cosegregate with the gene and can be used for segregation analysis of the disease. These RFLPs should help to achieve better diagnosis of the vW syndrome in the future. This paper shows the data obtained in two families. They demonstrate the usefulness of RFLP analysis for diagnosis of carriers of the vW syndrome.
Mannhalter
C
C
I. Medizinische Universitätsklinik, Wien.
Parzer
S
S
Kyrle
P A
PA
D000328:Adult; D003001:Cloning, Molecular; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014842:von Willebrand Diseases / Q000175:diagnosis* / Q000235:genetics; D014841:von Willebrand Factor / Q000235:genetics*
D015342:DNA Probes; D014841:von Willebrand Factor