Progress of DNA-based Methods for Species Identification / 法医学杂志

Species identification of biological samples is widely used in such fields as forensic science and food industry. A variety of accurate and reliable methods have been developed in recent years. The current review shows common target genes and screening criteria suitable for species identification, and described various DNA-based molecular biology methods about species identification. Additionally, it discusses the future development of species identification combined with real-time PCR and sequencing technologies.

Neoeugenia: o limite entre a manipulação gênica terapêutica ou reprodutiva e as práticas biotecnólogicas seletivas da espécie humana: [revisão] / Neo-eugenics: the limit between genetic manipulation for therapy or reproduction and the selective biotechnological practices of the human species: [review]

Este artigo tem como objetivo estabelecer paralelo entre as técnicas biomédicas adotadas nas terapias gênicas e nas práticas de reprodução assistida. Neoeugenia designa as práticas seletivas da espécie humana mediante manipulação gênica proporcionada pelas novas técnicas biomédicas. Discute as repercussões da medicina preditiva, a discriminação genética, as consequências dos possíveis erros ocasionados pela adoção dessas práticas, bem como o reflexo das práticas biotecnológicas na esfera dos direitos fundamentais dos indivíduos. Sua conclusão aponta a necessidade de fixar critérios para determinar o início da existência dos direitos individuais, garantir sua observância e viabilizar o respeito à liberdade, identidade e intimidadegenéticas, de forma que o genótipo humano (manipulado ou não) não venha a ser fator impeditivo ao gozo dos direitos fundamentais já assegurados.

El salto de la doble hélice. Consecuencias del Proyecto Genoma Humano en la medicina del siglo XXI (Segunda parte) / The leap of the double helix. Consequences of the Human Genome Project in medicine of the 21st century (Part II

El Proyecto Genoma Humano, iniciado en octubre de 1990, ha permitido desentrañar, 12 años después, la secuencia nucleotídica del ADN humano. Este hecho ha producido un avance singular en la medicina moderna, posibilitando a través de la detección de las variaciones nucleotídicas en la secuencia del ADN, el desarrollo de estudios genéticos, la determinación de pronósticos y guías terapéuticas con fármacos, y el desarrollo de nuevas drogas gracias al avance de la farmacogenómica. Todo esto permitiría, en un futuro cercano, la predicción de respuestas a maniobras terapéuticas en los procedimientos de anestesia, cuidados críticos y tratamiento del dolor. Este desarrollo introduce también problemas éticos, específicamente en los campos de la terapia génica y la clonación.

Molecular epidemiology of tuberculosis.

Molecular epidemiology (ME), a blend of molecular biology and epidemiology, is very useful to study the spread of tubercle bacilli in mini epidemics, outbreaks, to analyse the transmission dynamics of tuberculosis (TB) and to determine the risk factors for TB transmission in a community. ME has a great role in distinguishing between exogenous reinfection and endogenous reactivation. In the laboratory, molecular epidemiology can be used to identify cross contamination. Many new DNA typing methods have been introduced after the initial introduction of restriction fragment length polymorphism (RFLP) in 1993. An internationally accepted, standardized protocol for RFLP typing of the Mycobacterium tuberculosis complex using IS6110 was published in 1993 and is still used today. Most of the newer DNA typing methods are PCR based and microarray based methods are also available. This will enable individual strains of M. tuberculosis or clonal groups to be identified by specific phenotypic traits. ME will continue to be a useful tool in future to measure the impact of any public health intervention strategy for control of tuberculosis in the community.

A historical perspective and prospects of biomedical research on parasitic diseases

We all hope that biotechnology will answer some social and economical unavoidable requirements of the modern life. It is necessary to improve agriculture production, food abundance and health quality in a sustainable development. It is indeed a hard task to keep the progress on taking into account the rational use of genetic resources and the conservation of biodiversity. In this context, a historical perspective and prospects of the biomedical research on parasitic diseases is described in a view of three generations of investigators. This work begins with a picture of the scientific progress on biomedical research and human health over the last centuries. This black-and-white picture is painted by dissecting current advancements of molecular biology and modern genetics, which are outlined at the meaning of prospecting achievements in health science for this new millenium

Molecular biology of the kallikrein-kinin system: from structure to function

The participation of the kallikrein-kinin system, comprising the serine proteases kallikreins, the protein substrates kininogens and the effective peptides kinins, in some pathological processes like hypertension and cardiovascular diseases is still a matter of controversy. The use of different experimental set-ups in concert with the development of potent and specific inhibitors and antagonists for the system has highlighted its importance but the results still lack conclusivity. Over the last few years, transgenic and gene-targeting technologies associated with molecular biology tools have provided specific information about the elusive role of the kallikrein-kinin system in the control of blood pressure and electrolyte homeostasis. cDNA and genomic sequences for kinin receptors B2 and B1 from different species were isolated and shown to encode G-protein-coupled receptors and the structure and pharmacology of the receptors were characterized. Transgenic animals expressing an overactive kallikrein-kinin system were established to study the cardiovascular effects of these alterations and the results of these investigations further corroborate the importance of this system in the maintenance of normal blood pressure. Knockout animals for B2 and B1 receptors are available and their analysis also points to the role of these receptors in cardiovascular regulation and inflammatory processes. In this paper the most recent and relevant genetic animal models developed for the study of the kallikrein-kinin system are reviewed, and the advances they brought to the understanding of the biological role of this system are discussed.

Aplicación de técnicas de biología molecular en la investigación médica en Chile / Molecular biology techniques in clinical research in Chile

Medical investigation in Chile is beginning to applymolecular biology methods as diagnostic tools and in studies establishing the prevalence of pathologies with Mendelian or multifactorial genetic origin. In this way,we are getting nearer to the strategies used worldwide for these purposes. Two studies published in this journal, 1 about hemophilia A where an analysis of intron-18 and intron-7 of the Factor VIII gene was applied as strategy for the diagnosis of carrier state in a Chilean population and the other one, about insulin-dependent diabetes mellitus in Santiago, Chile, with an analysis from immunogenetics to some environmental risk factors, constitute good examples about this integration

Anomalía de Pelger-Huët: estudio clínico y ultraestructural en una familia del noroeste de México / The Pelger-Huët anomaly: a clinical and ultrastructural study of a family from Northeast Mexico

La anomalía de Pelger-Huët es una alteración benigna en la forma de los granulocitos que se hereda principalmente en forma autosómica dominante. La prevalencia de esta anomalía varía de país a país y en México está sería la sexta familia informada. Se presenta el caso de un niño de un año nueve meses de edad que fué detectado durante el estudio de anemia ferropénica con la cual se presentó al hospital; en su familia, de nueve miembros, se encontró la afección únicamente en el padre del paciente. Se practicó estudio de microscopía electrónica a los neutrófilos del padre del propositus y de un testigo normal; se encontró que los gránulos del paciente y su padre eran de tamano normal pero estaban disminuidos en cantidad. Se discute el modo de herencia, la presentación, la morfología, el diagnóstico diferencial y se enfatiza la importancia de reconocer esta anomalía y practicar consejo genético