[Autosomal dominant XXXX ].

@entity1 @entity8 @entity4479 @entity13704 @entity28046 @entity25900 @entity74
BACKGROUND: Molecular genetics are a fundamental turning point in the approach to @entity74 of adults ( @entity28046 ). DNA analysis makes diagnosis possible at in any ontogenic period, i.e. also during the prenatal period. The objective of the present study was to test the presymptomatic DNA diagnosis in a major group of @entity1 with @entity28046 and the possibility to detect the disease in the initial stage and influence its development by early treatment and advise the @entity1 on parenthood. METHODS AND RESULTS: In 1990-1994 the authors contacted 157 @entity1 with @entity8 , @entity4479 ( @entity28046 ). 87 families were examined by Southern's RFLP method (gene @entity13704 , 16p13.3, standard probe 3'HVR and restrictase Pvu II). Of 493 members of these families only 25 (5.1%) refused to be examined. So far 378 examinations were completed, 90 proceed. In 40 of 132 examined subjects with the risk of @entity28046 transmission of the gene was proved. Of four examinations of the foetus with the risk of @entity28046 twice transmission of the gene was proved and the pregnancy was terminated. In three families with three or more members suffering from @entity28046 in some there was not agreement between the result of linkage analysis of DNA and the clinical finding. The authors analyzed whether the cause is recombination or ADKPD conditioned by mutation of gene @entity25900 (4p13-23). Linkage analysis remains in @entity28046 the basic examination as the sequence of gene @entity13704 is not yet completed. Discovery of gene @entity25900 the mutations of which condition as many as 15% of all cases of @entity28046 has an impact on the evaluation of linkage analysis. The reliability of prediction rises with the number of examined subjects in the family. The examination revealed that @entity1 are willing to have DNA examinations (as many as 98%); despite this the number of examined subjects is only a small fraction of the anticipated 10,000 @entity1 in the Czech Republic suffering from @entity28046 : CONCLUSIONS: DNA analysis in @entity1 with @entity8 is the most important examination for its diagnosis. It makes the diagnosis possible in all stages of ontogenesis, incl. prenatal diagnosis. It is a highly valid parameter when these @entity1 decide on parenthood. It makes early treatment possible which can influence the development of the disease and its complications.
