El genoma humano y el desarrollo de la genética forense / The human genome and the development of forensic genetics

El objetivo de este artículo es introducir al médico generalista en los adelantos científicos y técnicos de la genética forense. A partir de los trabajos de Mendel en 1865 sobre hibridación en las plantas se sucedieron avances en el conocimiento del ADN y se incorporaron nuevas técnicas de laboratorio, que permitieron detectar en el ADN un sector no codificante. El conocimiento de este sector junto con los adelantos de informática (software) han permitido progresos innovadores en el desarrollo de las técnicas de identificación forense, logrando que la Genética Forense se convierta en un auxiliar de la justicia para la resolución de casos de filiación, el reconocimiento de restos humanos y el descubrimiento de responsables de crímenes a través de la identificación de ADN encontrado en la escena. (AU)

The objective of this article is to introduce the general practitioner to the scientific and technical advances of forensic genetics. From the work of Mendel in 1865 on hybridization in plants, advances were made in the knowledge of DNA and new laboratory techniques were incorporated, which made it possible to detect a non-coding sector in DNA. Knowledge of this sector together with the advances in computer science (software) have allowed innovative progress in the development of forensic identification techniques, making Forensic Genetics an auxiliary of justice, for the resolution of filiation cases, the recognition of human remains and the discover of the person responsible for the crimes through the identification of their DNA found at the scene of a crime. (AU)

DNA Molecular Identification of Human Phenotypic Characteristics--New Progress Over the Past Five Years / 法医学杂志

Molecular identification of human externally visible characteristic （EVC）, which is also called forensic DNA phenotyping （FDP）, can serve as a "molecular witness" when the routine investigations can not determine the identity of a criminal and the DNA database find no match after comparison. FDP could assist in investigation of cases by inferring the externally visible phenotypic characteristics from DNA obtained from the biological materials left at crime scenes, or unknown corpses. In the last few years, studies on the selection of EVC related molecular markers have been reported frequently and some of the EVCs could already be inferred with a certain accuracy, such as hair color and iris color. Further fundamental research on molecular genetics of human external phenotypic characteristics, as well as the continuous innovation on molecular biological technology would promote the rapid development of DNA molecular identification of human phenotypic characteristics.

Research Progress on the Detection Method of DNA Methylation and Its Application in Forensic Science / 法医学杂志

As an important part of epigenetic marker, DNA methylation involves in the gene regulation and attracts a wide spread attention in biological auxology, geratology and oncology fields. In forensic science, because of the relative stable, heritable, abundant, and age-related characteristics, DNA methylation is considered to be a useful complement to the classic genetic markers for age-prediction, tissue-identification, and monozygotic twins' discrimination. Various methods for DNA methylation detection have been validated based on methylation sensitive restriction endonuclease, bisulfite modification and methylation-CpG binding protein. In recent years, it is reported that the third generation sequencing method can be used to detect DNA methylation. This paper aims to make a review on the detection method of DNA methylation and its applications in forensic science.

Research progress on the phenotype informative SNP in forensic science / 法医学杂志

Single nucleotide polymorphism (SNP) refers to the single base sequence variation in specific location of the human genome. Phenotype informative SNP has gradually become one of the research hot spots in forensic science. In this paper, the forensic research situation and application prospect of phenotype informative SNP in the characteristics of hair, eye and skin color, height, and facial feature are reviewed.