[An analysis of chromosomal telometric regions in diagnosis of genetic disorders].
In the past decade, telomeres have been reported to be involved in several important biological functions. It has made the study of these chromosome regions relevant to many areas of medical and biological sciences. (Variety of basic biological functions of telomeric regions and their essential role in chromosome function have made the study of these regions relevant to many areas of medical and biological sciences). Molecular structure, an essential role in homologue pairing and recombination as well as high frequency of recombination in telomeric regions are predisposing factors to the rearrangements in these regions. Telomeres are the most gene-rich regions in the genome. That is why any abnormality at the region may be clinically manifest. These features of telomeric regions have made them of particular interest for the studies of molecular basis and aetiology of genetic disorders. In this review article the structure and methods of analysis of telomeric regions as well as the incidence, mechanisms and clinical significance of their aberrations with special emphasis put on their role in the aetiology of mental retardation, are presented.
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Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17a, 01-211 Warszawa, Poland.
D002869:Chromosome Aberrations / Q000145:classification*; D025063:Chromosome Disorders / Q000175:diagnosis*; D020732:Cytogenetic Analysis / Q000379:methods; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D016615:Telomere / Q000737:chemistry* / Q000235:genetics