Chromosome-specific DNA repeats: rapid identification in silico and validation using fluorescence in situ hybridization

Int J Mol Sci. 2012 Dec 20;14(1):57-71. doi: 10.3390/ijms14010057.

Abstract

Chromosome enumeration in interphase and metaphase cells using fluorescence in situ hybridization (FISH) is an established procedure for the rapid and accurate cytogenetic analysis of cell nuclei and polar bodies, the unambiguous gender determination, as well as the definition of tumor-specific signatures. Present bottlenecks in the procedure are a limited number of commercial, non-isotopically labeled probes that can be combined in multiplex FISH assays and the relatively high price and effort to develop additional probes. We describe a streamlined approach for rapid probe definition, synthesis and validation, which is based on the analysis of publicly available DNA sequence information, also known as "database mining". Examples of probe preparation for the human gonosomes and chromosome 16 as a selected autosome outline the probe selection strategy, define a timeline for expedited probe production and compare this novel selection strategy to more conventional probe cloning protocols.

MeSH terms

  • Chromosomes, Artificial, Bacterial / genetics
  • Chromosomes, Human, Pair 16 / genetics*
  • Clone Cells
  • Computer Simulation*
  • DNA Probes / metabolism
  • DNA, Satellite / genetics
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Repetitive Sequences, Nucleic Acid / genetics*
  • Reproducibility of Results
  • Sex Chromosomes / genetics
  • Trisomy / genetics

Substances

  • DNA Probes
  • DNA, Satellite