[Use of genetic technics in medical diagnosis exemplified by hemophilia A].
Recent years have seen the rapid development of molecular probes for the detection of defective human genes. These react either directly with the gene in question or with a DNA sequence which lies in close proximity to the gene and which exhibits polymorphism. In the case of haemophilia A two probes were found that belong to the latter category. We have used one of these probes to test its usefulness in the detection of carriers of haemophilia A. For these tests DNA was isolated from blood cells, but can, in principle, be obtained just as easily from other cells or tissues. The results of tests on several families show that the gene technological method is much more precise and sensitive than conventional methods used so far to detect carriers. In all cases a clear assertion was possible as to whether or not the person in question was a carrier of haemophilia A. The method should be applicable to prenatal diagnosis.
D004247:DNA / Q000235:genetics; D004274:DNA, Recombinant; D005169:Factor VIII / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005821:Genetic Techniques; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D004274:DNA, Recombinant; D005169:Factor VIII; D004247:DNA
Anwendung gentechnischer Methoden in der medizinischen Diagnostik am Beispiel der Hämophilie A.