Molecular Genetics and its Applications in Forensic Sciences

The way to medico legal identification was open at the end of the twenty‐first century by the “digital fingerprinting” represented by the multifactorial phenotypical trait, determined by both polygenic and environmental factors, followed by group‐specific antigens, or with specificity for blood and tissue, and ending with the DNA molecule in use today. Because of this aspect, the framework of modern forensic medicine includes a new field, that of forensic genetics, that mostly involves working with investigations that have human genotype identification as a goal

An Ethical Dilemma in SARS-Cov-2 Pandemic : Who Gets the Ventilator?

Since the current pandemic is an emergency situation worldwide, there’s a shortage of mechanical ventilators, intensive care unit (ICU) beds, and other medical equipment. Due to new disease and insufficient medical data, it is difficult to ensure access to life-saving treatments for people with various vulnerabilities. From an ethical point of view, the current guidelines and recommendations, as incomplete as they are, suggest the utilitarian principle that the allocation of life-saving treatments is based on assessing patients' chances of survival

ETHICAL CONSIDERATIONS REGARDING GENETIC DISCRIMINATION IN THE CASE OF HUNTINGTON’S DISEASE

Huntington’s is a genetic neurodegenerative disease with dominant autosomal transmission, and high penetrance. This transmission model represents a high recurrence risk (50%) in case of the descendants of affected individuals. This disease can have its debut during adulthood, 40-50 years old or, in case of its juvenile form, during childhood or adolescence. The disease evolves with dystonia, choric movements, rigidity and dementia. Genetic testing for HD mutation is performed through molecular techniques and is possible at any age, independent of whether the person is symptomatic or asymptomatic. The genetic testing allows the identification of those individuals who are carriers of mutations on certain genes, these mutations being the underlying cause for some genetic diseases. At the present moment there are 3 types of genetic testing: diagnostic, carrier and predictive. The predictive tests identify whether an individual is a carrier for a certain specific genetic mutation and whether the possibility exists for him to develop certain health issues later on. Being aware of the carrier status for a certain genetic mutation for Huntington’s represents an element with major impact on the individual and on their family and can lead to discrimination from the side of the insurance companies, employers as well as others

ETHICAL CONSIDERATIONS REGARDING GENETIC DISCRIMINATION IN THE CASE OF HUNTINGTON’S DISEASE

Huntington’s is a genetic neurodegenerative disease with dominant autosomal transmission, and high penetrance. This transmission model represents a high recurrence risk (50%) in case of the descendants of affected individuals. This disease can have its debut during adulthood, 40-50 years old or, in case of its juvenile form, during childhood or adolescence. The disease evolves with dystonia, choric movements, rigidity and dementia. Genetic testing for HD mutation is performed through molecular techniques and is possible at any age, independent of whether the person is symptomatic or asymptomatic. The genetic testing allows the identification of those individuals who are carriers of mutations on certain genes, these mutations being the underlying cause for some genetic diseases. At the present moment there are 3 types of genetic testing: diagnostic, carrier and predictive. The predictive tests identify whether an individual is a carrier for a certain specific genetic mutation and whether the possibility exists for him to develop certain health issues later on. Being aware of the carrier status for a certain genetic mutation for Huntington’s represents an element with major impact on the individual and on their family and can lead to discrimination from the side of the insurance companies, employers as well as others

Advantages of Salivary DNA in Human Identification

Since two and a half decades, in human identification, the short tandem repeat (STR) markers represent the “gold standard.” Besides them, haploid markers such as X-STR and Y-STR are also used to complement the autosomal markers. In human identification, DNA from body fluids, especially saliva, represents an important tool. The aim of this chapter is to present the importance of analyzing X-STR markers in a relatedness case between a sister and her presumptive brother, a carbonized victim using body fluids for their DNA identification. Our laboratory had to establish the relatedness between a woman and her presumptive brother (PB), who was the victim of a car accident explosion. In this case, as reference sample we used saliva collected on swabs from the woman and blood sample from the deceased victim. For the DNA extraction, DNA IQ Casework (Promega, USA) was used. DNA quantification was done with PowerQuant System kit (Promega, USA). Furthermore, the DNA samples were amplified with Investigator 24plex QS (Qiagen, Germany) for the STR markers and Investigator Argus 12-X QS kit (Qiagen, Germany) for the X-STR markers. The amplified DNA products were separated by capillary electrophoresis on a 3500 Genetic Analyzer. In this case, full genetic profiles were obtained for the woman and her presumptive brother on both STR and X-STR markers. Thus, we could confirm a full sibling relationship between them. Since the introduction of DNA in human identification, it represents a useful tool in establishing sibling relationship from different biological samples

HARMONISIERUNG DES JAHRESABSCHLUSSES

IAS 1 regulates the contents and layout bases of the financial statements. Financial statements addressees are those who cannot demand customized reports from the company for their own information needs. A complete financial statement includes the statemeJahresabschluss, Ergebnis, Gewinn- und Verlustrechnung, Bilanzierungsfehler

Genetic DNA Identification from Bone Remains in Kinship Analysis Using Automate Extraction System

The first ever human identification through DNA analysis was done in the year 1987. Since then, this test has been used, not only in the ruling of civil and juridical cases, but also for human identification of missing persons and mass disaster victims. In this chapter we will present the usefulness of genetic DNA testing of skeletonized remains for human identification, by using automate DNA extraction from three different human bone types: tooth, femur and petrous pyramid. For each case, we obtained saliva samples on buccal swabs from relatives. After the bones were washed and cleaned, Bead Balls Mill Mix 20 (Tehtnica Domel, Slovenia), was used to obtain the bone powder. The DNA extraction from bone samples was performed on the automate Maxwell RSC 48 Instrument (Promega, USA), using the Maxwell FSC DNA IQ Casework Kit (Promega, USA). Power Quant System (Promega, USA) was used for DNA quantification of the samples. The DNA samples were amplified on a Pro Flex PCR System (Thermo Fischer, USA), using the Global Filer PCR Amplification Kit (Applied Biosystems, USA). PCR products were run on a 3500 Genetic Analyzer (Thermo Fischer, USA). Data analysis was performed by Gene Mapper 1.4. Considering that these cases involved DNA extraction from teeth, bones and old human remains, automate system was felt to be the best option to reduce handling errors and increase the possibilities of obtaining good quality DNA

Supplementary videos for "Collective cell behaviour in long-range mechanosensing of extracellular matrix dimensions"

Supplementary videos for &quot;Collective cell behaviour in long-range mechanosensing of extracellular matrix dimensions&quot;, PhD Thesis, Camelia Gratiela Muresan (Tusan). Videos 4, 5, 6, 7, 8, 9 were published in Collective cell behavior in mechanosensing of substrate thickness by Tusan, C. G. et al published in Biophysical Journal. Funded by EPSRC and Rosetrees Trust.</span