RESUMO
BACKGROUND: In South America, the history of human genetics is extensive and its beginnings go back to the onset of the twentieth century. In Ecuador, the historical record of human genetics and genomics research is limited. In this context, our work analyzes the current status and historical panorama of these fields, based on bibliographic searches in Scopus, Google Scholar, PubMed, and Web of Science. RESULTS: Our results determined that the oldest paper in human genetics coauthored by an Ecuadorian institution originates from the Central University of Ecuador in 1978. From a historical standpoint, the number of articles has increased since the 1990s. This growth has intensified and it is reflected in 137 manuscripts recorded from 2010 to 2019. Areas such as human population genetics, phylogeography, and forensic sciences are the core of genetics and genomics-associated research in Ecuador. Important advances have been made in the understanding of the bases of cancer, some genetic diseases, and congenital disorders. Fields such as pharmacogenetics and pharmacogenomics have begun to be explored during the last years. CONCLUSIONS: This work paints a comprehensive picture and provides additional insights into the future panorama of human genetic and genomic research in Ecuador as an example of an emerging, resource-limited country with interesting phylogeographic characteristics and public health implications.
Assuntos
Genômica/tendências , Pesquisa/história , Pesquisa/tendências , Inquéritos e Questionários , Equador , História do Século XX , História do Século XXI , Genética Humana , Humanos , PublicaçõesRESUMO
Armed conflict in Colombia has played an important role in the missing people phenomenon, in which the Government has the duty to identify, recover and investigate the crime in the process of the victims' reparation. However, identifying missing people is a complex process because of the huge amount of time it consumes and the lack of information regarding the identity of the missing people, which is the norm in most of the cases. In such cases in which there is little information on the identity of missing people (including data of their relatives), DNA analysis and databases are of key importance in the identification process. This is why we present two cases that exemplify the role of DNA databases in the successful identification of missing people.
En el marco del conflicto armado que se ha presentado durante los últimos años en el territorio colombiano, el Estado ha llevado a cabo la labor de investigar, recuperar e identificar los cuerpos de personas desaparecidas en el proceso de reparación a las víctimas. La identificación de personas fallecidas y desaparecidas en la mayoría de los casos es un proceso largo y complejo, en el que es frecuente contar con muy escasa información sobre la posible identidad del individuo y sin ninguna información sobre los familiares. Es aquí donde el análisis de ADN y las bases de datos relacionadas juegan un papel importante en este proceso. Se presentan dos casos en los que se logra la identificación de dos individuos previamente reportados en condición de no identificados (individuos CNI); esto se da años después mediante la búsqueda y comparación de perfiles genéticos en la Base Nacional de Perfiles Genéticos de Aplicación en Investigación Judicial CODIS (Combined DNA Index System por sus siglas en inglés) y haciendo una ampliación del análisis genético en ambos casos para su confirmación.