Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH

Article Abstract:

Duplications of the proteolipid protein (PLP) gene have been found in a fraction of patients, suggesting that, in addition to coding-region or splice-site mutations, overdosage of the gene can cause Pelizaeus-Merzbacher disease (PMD). Duplications are a major cause of PMD and for that reason it has been suggested that interphase fluorescence in situ hybridization (FISH) would be a good method for diagnosis and identification of female carriers. The extent of the duplication was analyzed in five paients with four asymptomatic carrier mothers. PMD is an X-linked dysmyelinating central nervous system (CNS) disorder, and Xq22 proteolipid-protein duplications have been identified.

United Kingdom, Usage, Genetic aspects, Chromosome mapping, Genetic disorders, Demyelination, Demyelinating diseases

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Chromatin architecture of the human genome: gene-rich domains are enriched in open chromatin fibers

Article Abstract:

Distributions of compact and open chromatin fiber structures separated by sucrose sedimentation are analyzed using hybridization to metaphase chromosomes and genomic microarrays. It is shown that compact chromatin fibers form from some sites of heterochromatin and euchromatin.

Science & research, Methods, Chromatin, Hybridization, Human genome

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