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Revista Médica del Uruguay

On-line version ISSN 1688-0390

Abstract

DRETS, Máximo E.. Una saga citogenética: El descubrimiento de los métodos de bandeo cromosómico. Significado y proyección bio-médica. Rev. Méd. Urug. [online]. 2002, vol.18, n.2, pp.107-121. ISSN 1688-0390.

Summary Human chromosome identification systems and several chromosome banding methods, developed during the last four decades, are briefly reviewed under a historical perspective. Numerous episodes that built the basis of the present modern structural and molecular citogenetics (the author took part in some of them) are reported. Some molecular aspects related to this methodology are also mentioned, in order to contribute to the understanding of different aspects of the underlying chromosomal structures revealed by these methods. The analytical procedures developed in our laboratory for the study of nuclei and chromosomes, the results of quantitative analysis of the subtelomeric region and its probable relationship with cryptic aberrations detected in this chromosomal segment and responsible for mental retardation and congenital abnormalities, are described. Finally, we also include a brief report about the application of chromosome banding in the Human Genome Project and on its potential usefulness in the development of experiments on the artificial synthesis of eukariotic cell nuclei, of considerable significance in biology, is also included.

Keywords : TÉCNICAS CITOLÓGICAS; CARIOTIPADO; BANDEO CROMOSÓMICO [métodos]; CROMOSOMAS [genética]; ABERRACIONES CROMOSÓMICAS.

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