O1212 MOLECULAR GENETIC DIAGNOSTICS OF THE PROGRESSIVE MUSCULAR DYSTROPHY

Abstract

Aims: This study is dedicated to the diagnostics of the progressive muscular dystrophies, especially Duchenne muscular dystrophy. The aim of the study was determine the origin of the patology of dystrophin in two families with an occurrence of handicapped males and set the probability of carrier for women in risk. The other aim was to make an algorithm for investigation with the suspicion on the progressive muscular dystrophy. Methods: Material for analysis (DNA) was extracted from peripheral blood and from diagnostic muscular biopsy (dystrophin, mRNA) from the patients or the members of the families. When the deficit of the dystrophin from muscular biopsy by the imunohistochemical method was detected, the other molecular-biologic analyses were done. Multiplex PCR, mRNA analysis, RT-PCR and linkage analysis in families was used as so as the standard techniques of gel electrophoresis. Results& Conclusions: The clinical findings are very miscellaneous. With the suspicion on the progressive muscular dystrophy is needful the comprehensive view, because of the bad prognosis of the desease. For prediction of carrier status is sometimes necessary to examine several members of the family. This study should give the overview of the possible methods to identify the origin of the patology and determine the risk of carrier status for women.