Carrier detection by microsatellite analysis of Duchenne/Becker muscular dystrophy in Hungarian families.

Duchenne and Becker muscular dystrophies are among the most severe and frequent inherited disorders. Being still incurable, medical treatment is concentrated on the carrier diagnosis of the members of the affected families. Here we report the results of the studies of 151 members of 41 Hungarian families, obtained with multiplex PCR amplification of 18 exons as well as the muscle specific promoter region, and haplotype analysis of two polymorphic (CA)n repeat microsatellite loci in introns 45 and 49 of the dystrophin gene. The analysis of 15 deletion-type families revealed a frequency of new mutations not differing significantly from that in the other regions of Europe. We also compared the allele distributions of the two microsatellites in randomly selected normal individuals and affected family members. The allele distribution of STRP45 shows interesting differences between the two populations.

The study of the differential pulse voltammetric behaviour of ergot alkaloids and their determination by DC amperometric detection in a FIA system.

The ergot alkaloids possess strong pharmacological effects and are important drugs with widespread clinical uses. The ergot alkaloid preparations manufactured by Gedeon Richter Chemical Works Ltd have a very low active substance content (e.g. 1.0 mg in each Secadol (0.4 g) coated tablet); therefore a sensitive method of determination must be used. Because of this constraint the differential pulse voltammetric behaviour of ergot alkaloids was studied in respect of the effects of pH and composition of media and an automated FIA system with amperometric detection has been used to develop a selective and sensitive method for the routine quantitative assay of these alkaloids. A short summary is given of the experimental evidence to substantiate the stoichiometric equation proposed for the electrochemical oxidation of the lysergic acid type of ergot alkaloids, the mechanism may be generally applicable for compounds having the ergoloid skeleton. In the course of the work it was concluded that a simple DC amperometric method of detection in a FIA system could be applied to determine the content of ergot alkaloids of different pharmaceutical preparations. A suitable method designed to meet current analytical requirements has been developed and validated.

Use of overpressurized thin-layer chromatography (OPTLC) for the separation of amino-acids and polypeptides.

Overpressurized thin-layer chromatography (OPTLC) has been used for the separation of amino-acids and polypeptides. The effects of the ratio of pyridine to acetic acid as well as that of butanol to water on the selectivity and efficiency of separation have been investigated in detail. The influence of the nature of organic solvents in the eluent has also been studied. The optimal conditions have been elaborated and the practical applicability in pharmaceutical analysis of the separation system has been demonstrated.