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.

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Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity

Article Abstract:

LKB1 kinase activity loss in Peutz-Jeghers syndrome (PJS), a rare autosomal dominant disease involving mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis with high risk of certain cancers, is discussed with the presentation of evidence for allelic and locus heterogeneity. The screening in nine PJS families of various national origins for LKB1 mutations and the finding of seven novel mutations are covered.

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Molecular characterization of CTNS (ital) deletions in nephropathic cystinosis: development of a PCR-based detection assay

Article Abstract:

Development of a PCR-based detection assay for nephropathic cystinosis, an autosomal recessive disorder, based on molecular characterization of CTNS (ital) deletions is discussed. The disorder, characterized by accumulation of intralysosomal cystine caused by a cystine transport defect across the lysosomal membrane, has been shown to be the result of nonhomogeneous recombination, and the deletion breakpoints have been found.

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