Cinco décadas de la biología molecular y la citogenética aplicadas a la hematología cubana / Five decades of molecular biology and cytogenetic applied to cuban hematology

La biología molecular (BM) es una ciencia que ha revolucionado el desarrollo científico en los últimos años. En el Instituto de Hematología e Inmunología (IHI) también ha evolucionado progresivamente conforme al avance tecnológico y adecuándose cada vez más al contexto científico internacional. Su historia se remonta al año 1966, con la creación del IHI y posteriormente del laboratorio de BM. En el año 2012, el departamento de BM y el laboratorio de citogenética, pasaron a formar parte de lo que hoy es el Centro de Tecnologías de Avanzada, un área con tecnología de punta que ha permitido actualizar la mayoría de las técnicas moleculares que se empleaban previamente, lo que garantiza mayor rapidez y confiabilidad de los resultados. Se introdujeron y perfeccionaron técnicas como la extracción y cuantificación de ácidos nucleicos, la electroforesis capilar y el FISH (del inglés: Fluorescence In Situ Hybridization) y se adquirieron modernas máquinas termocicladoras para la reacción en cadena de la polimerasa (PCR , siglas en inglés), materiales y reactivos. Con este esfuerzo mancomunado en estos 50 años, se han podido beneficiar hasta la fecha: 5 460 pacientes, estudiados en el laboratorio de BM, donde se determinan actualmente 10 marcadores moleculares, 12 estudios de FISH; además del cariotipo convencional y los estudios de quimerismo. Se ha alcanzado una media anual de 317 pacientes estudiados, en los últimos 5 años. Se cuenta con profesionales de alta calificación, lo que ha posibilitado liderar y colaborar en proyectos de investigación nacionales e internacionales, publicar innumerables artículos científicos, obtener premios relevantes y formar a los residentes de la especialidad de Hematología. Las perspectivas comprenden la incorporación de la PCR en tiempo real y la secuenciación para completar un nivel de diagnóstico a la altura de cualquier prestigioso centro internacional y así poder ofrecer un servicio de calidad a los pacientes(AU)

Molecular biology (MB) is a science that has revolutionized scientific development in recent years. It has also increasing progressively at the Institute of Hematology and Immunology (IHI) as adapting to technological advances and international scientific context. Its history dates back to 1966, with the IHI creation and subsequently the MB laboratory. Since then they have been many achievements in the field of diagnosis and research in Hematology. In 2012, the MB department with the cytogenetic laboratory was part of the Center for Advanced Technologies; an area with modern technology that has allowed change old studies by updated molecular techniques, ensuring greater speed and reliability of results. Techniques such as extraction and quantification of nucleic acids (NA), capillary electrophoresis and the FISH (Fluorescence in Situ Hybridization) were introduced, and modern thermocyclers for polymerase chain reaction (PCR), materials and reagents were acquired too. In these 50 years, 5 460 patients have been benefited to date. We study about 10 molecular markers, 12 FISH study, in addition to conventional karyotyping and chimerism studies in the MB lab at this moment. It has gone an annual average of 317 patients in the last 5 years. We have highly qualified professionals, which has made possible to lead and collaborate on national and international research, publishing numerous scientific articles, obtain relevant prizes of science and technology forum and directly contribute to the residents' formation in Hematology. Our future perspectives include the new technologies incorporation such as real-time PCR and sequencing, to complete a similar diagnostic level to any prestigious international center so we can provide quality service to our patients(AU)

Resultados relevantes en biología molecular, enzimopatías y citogenética en el período 1996-2010 / Relevant results in molecular Biology, enzymopathies and citogenetics during 1996-2010

El Departamento de Biología Celular y Molecular del Instituto de Hematología e Inmunología incluye 4 áreas: biología molecular, hemoglobinopatías, enzimas y membrana eritrocitaria y citogenética. Se presentan aspectos relevantes del trabajo desarrollado en los últimos años que comprende investigaciones en las talasemias que permitieron conocer las bases moleculares de estas hemoglobinopatías en nuestra población. En el campo de la biología molecular se desarrolló inicialmente la técnica del southern blot; posteriormente, la de la reacción en cadena de la polimerasa y la transcripción inversa, que han sido muy útiles en el diagnóstico y seguimiento de pacientes con hemopatías malignas. La presencia de alteraciones citogenéticas (monosomías, trisomías, translocaciones, inversiones y deleciones) ha sido ampliamente evaluada en enfermedades hematológicas, con gran utilidad también en el diagnóstico, pronóstico y seguimiento de los pacientes. En cuanto a las enzimopatías, se pudo conocer la alteración molecular de variantes deficientes de glucosa-6-fosfato deshidrogenasa y con el desarrollo de las técnicas para el estudio de las proteínas de la membrana eritrocitaria, se determinó la alteración bioquímica de enfermos con esferocitosis hereditaria (EH)

The Department of Cellular and Molecular Biology of the Institute of Hematology and Immunology includes 4 areas: molecular biology, hemoglobinopathies, enzymes and erythrocytic and cytogenetic membrane. Authors show relevant features of work developed in past years including researches of thalassemia allowing us to know the molecular bases of these hemoglobinopathies in our population. In the field of molecular biology initially we developed the Southern Blot technique; later, that of the polymerase chain reaction (PCR) and the inverse transcription, both very useful in the diagnosis and follow-up of patients presenting with malignant hemopathies. The presence of cytogenetic alterations (monosomies, trisomies, translocations, inversions and deletions) has been fully assessed in hematologic diseases and also with a great usefulness in the diagnosis, prognostic and follow-up of the patients. As regards the enzymopathies, it was possible to know the molecular alteration of variants lacking in glucose-6-phosphate dehydrogenase and with the development of the techniques for the study of proteins of erythrocytic membrane it was possible to determine the biochemical alteration of patients presenting with hereditary spherocytosis (HS)

Pesquisa em biologia molecular: como fazer? / Molecular biology research: how to do it?

O estudo da biologia molecular representa hoje uma das áreas de maior potencial para a realização de pesquisas em Medicina e um número cada vez maior de profissionais de saúde tem se interessado em aprofundar seus conhecimentos e produção científica, mediante a realização de projetos de pesquisa nesta área. Entretanto, a elaboração do projeto de pesquisa necessita ser realizada de forma bastante cuidadosa, considerando a grande amplitude dos potenciais objetivos e metodologias a serem utilizadas, dependentes em grande parte da disponibilidade de recursos tecnológicos e experiência prévia da equipe. O objetivo deste trabalho é contribuir para esta elaboração do projeto de pesquisa através da apresentação de alguns modelos estruturais mais freqüentemente utilizados na realização de estudos em biologia molecular, assim como rever seus princípios e métodos empregados.

Molecular biology studies are presently regarded as a major source for research in Medicine, and an increasing number of medical professionals are interested in improving their knowledge and scientific production in this subject. However, structuring the research project may become a difficult challenge due to the wide range of methods and techniques available in this area, most of them depending on existing technological facilities and personal skill. The aim of this study is to contribute for the task of setting up a research project by presenting a brief review of most used structure models in molecular biology studies as well as its related principles and methods.

Physics and the origins of molecular biology.

Bohr, Delbrück and Schrödinger were physicists who had important influences on biology in the second half of the twentieth century. They thought that future studies of the gene might reveal new principles or paradoxes, analogous to the wave/particle paradox of light propagation, or even new physical laws. This stimulated several physicists to enter the field of biology. Delbrück founded the bacteriophage group which provided one of the roots of molecular biology. Another was X-ray crystallography which led to the discovery of DNA structure. The strength and success of molecular biology came from the many interactions between geneticists, physicists, chemists and biochemists. It was also characterized by a powerful combination of theoretical and experimental approaches.