A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset

Article Abstract:

A PCR amplification method has shown that instability exists in the dodecamer repeat in progressive myoclonus epilepsy, Unverricht-Lundborg type (EPM1). No correlation has been found, in 28 patients sampled, between age at onset and the repeat size. The gene that brings on EPM1 is cystatin B (ital). It seems that when the dodecamer repeat has expanded beyond a certain threshold, cystatin B (ital) expression is cut down in some cells with pathological results. A detection protocol involving PCR amplification and subsequent hybridization with an oligonucleotide containing the repeat was developed to determine the size of the repeat accurately.

France, Switzerland, Algeria, Morocco, Methods, Polymerase chain reaction, Epilepsy

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Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P3401B1

Article Abstract:

A comprehensive sequence analysis has been carried out on the translated regions of the cytochrome P4501B1 gene (CYP1B1) in 22 primary congenital glaucoma (PCG) families and 100 randomly selected normal people. Extensive allelic heterogeneity was seen with 16 mutations and 6 polymorphisms. The analysis and homology modeling show that it is likely that PCG on 2p21 comes from mutations disrupting the conserved core structures or the hinge region of cytochrome P3401B1.

United Kingdom, United States, Canada, Turkey, Physiological aspects, Glaucoma, Heme

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