Abstract

Publisher Summary The physical ends of chromosomes or telomeres are in most species composed of G-rich repeat sequences and associated proteins. The DNA of telomeres consists of specific repetitive sequences (TTAGGG in all vertebrates) that are synthesized from an RNA template by a specialized reverse transcriptase called telomerase. Conventionally, Southern analysis is used to estimate the average length of telomere repeat sequences. For this purpose, DNA extracted from a population of cells is digested with restriction enzymes and analyzed by gel electrophoresis. With this method DNA fragments are separated on the basis of size. The telomere repeat sequences present in a minor fraction of the DNA fragments are visualized after hybridization with a radiolabeled probe specific for telomeric DNA. Information on the length of telomere repeats in individual chromosomes can also be extracted from digital images of metaphase chromosomes that are subjected to quantitative fluorescence in situ hybridization (Q-FISH) with directly labeled peptide nucleic acid (PNA) telomere probes.

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