Recent Patents on Molecular Cytogenetics

Abstract

The questions surrounding patenting of DNA sequences encoding specific proteins are relatively well reviewed in the available literature. However, neither applications nor molecular cytogenetic techniques, which use these sequences as a probe, have been reviewed in the light of the patenting. Furthermore, the patenting of the use of numerous probes, which are produced on different types of repetitive genome elements (i.e. satellite DNA or telomeric DNA sequences) and those generated by chromosome microdissection has not been reviewed. Molecular cytogenetic techniques are one of the most applied in current bioscience (as to June 2007, over 40,000 papers in browseable scientific databases mention one or several molecular cytogenetic techniques). Therefore, reviewing recent patents in this field is of general interest for numerous researchers in different areas of biology and medicine. Here, we address world-wide patents on DNA sequences used as molecular cytogenetic probes and molecular cytogenetic techniques to define current state and perspectives of this biomedical direction.

An algorithm for the diagnosis of X-linked intellectual disability in children

“…Применение таких высокоразрешающих техноло-гий, как серийная сравнительная геномная гибриди-зация (CGH), показало, что Х-сцепленная умствен-ная отсталость может быть результатом вариации количества копий генов хромосомы Х [13][14][15]. Ранее некоторыми авторами были выявлены микроделеции и микродупликации хромосомы Х не менее чем в 13% случаев недифференцированной Х-сцепленной ум-ственной отсталости [16].…”

Human interphase chromosomes: a review of available molecular cytogenetic technologies

“…There are currently two essential platforms available for developments in molecular cytogenetics: fluorescence in situ hybridization (FISH) including comparative genomic hybridization (CGH) [3,36] and peptide nucleic acid (PNA) probing for analysis of chromosomal DNA [37,38]. Alternatively, another technique uses primed in situ labelling (PRINS) reaction [37,38].…”

“…Furthermore, contemporary basic biomedical research widely applies molecular cytogenetic technologies [5-7]. Browsing the most popular scientific resources would undoubtedly return several tens of thousands of articles, which mention at least one molecular cytogenetic technique (for more details refer to [3] and web page about multicolor fluorescence in situ hybridization at http://www.med.uni-jena.de/fish/mFISH/mFISHlit.htm managed by Dr. Thomas Liehr, Jena, Germany). Thus, one can be certain that it is hard to overestimate the role of molecular cytogenetics in current biomedicine.…”

“…Therefore, it is unsurprising that such approaches are rarely used for single-cell analysis [10,14]. The second advantage of molecular cytogenetic techniques is consistently emphasized [3,5-13], but is used more commonly for studying mitotic cells via analyzing metaphase chromosomes [3,7,10,12]. However, cells of eukaryotes are more likely to be in interphase.…”

“…The explanation of leaving interphase cytogenetics aside from diagnostics and research might be a suggested lack of reproducibility and low resolution. A brief look through studies of genome architecture in interphase nuclei [15-19] and somatic genomic variations [7,10,12,20-29] as well as developments in interphase cytogenetics [30-35] will reveal such assumptions unsupported and will show that laboratories elaborating such techniques are able to solve different practical and research tasks without major difficulties [3,7,12-35]. It seems thereby that preferences to use interphase molecular cytogenetic techniques suffer rather from "insufficient publicity" than from "technological underdevelopment".…”