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

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

MOLECULAR DETECTION OF PROSTATE CANCER USING A PANEL OF DNA METHYLATION BIOMARKERS

Introduction: The diagnostic of prostate cancer (PCa) using serumbasedprostate specific antigen (PSA) has some limitations due to falsepositiveand negative results. The purpose of our study was to analyse thehypermethylation of three genes from plasma samples and to determine the feasibility of these genes to aid as biomarkers in detecting PCa in plasma by noninvasive methods.Materials and Methods: Genomic DNA was extracted from the peripheralblood plasma of 74 patients with localized PCa. All the samples wereexamined for aberrant hypermethylation in retinoic acid receptor β variant 2 (RARβ2), glutathione S-transferase P1 (GSTP1) and Ras association domain family 1 isoform A(RASSF1A) genes, using methylation-specific PCR (MSP), and the results were correlated with the clinicopathologicalparameters.Results: The percent of methylation of the analyzed genes was as follows: RARβ2 was found methylated in 54 cases (73 %), GSTP1 in 58 cases (78.4%), and RASSF1A was found methylated in all 74 cases (100%).Conclusion: Our study demonstrates that, using a panel of DNA methylated biomarkers aids the identification of PCa patients and with minimally invasive techniques , may yield information independent of serum PSA or the TNM stage

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

Multigene Methylation Analysis And The Noninvasive Diagnosis Of Prostate Cancer From Body Fluids

Introduction During prostatic carcinogenesis, DNA hypermethylation occurs, thus representing a promising biomarker for the early detection of this malignancy. In our study, we aim to determine the usefulness of a molecular and multigene test for prostate cancer. However, this is based on the quantitative methylation-specific polymerase chain reaction (qMSP) of three genes from voided urine specimens by noninvasive methods. Materials and Methods In this study, the voided urine specimens were collected from 89 patients with prostate cancer and 69 controls. Genomic DNA was isolated and subjected to bisulfite modification. Consequently, we tested the methylation status of genomic DNA of three genes, namely: GSTP1, APC, and MDR1. This was done using the quantitative methylationspecific PCR method. Therefore, the obtained results were correlated with the clinicopathologic findings. Results Promoter methylation of GSTP1 gene in voided urine samples was found in 87 out of 89 (97.8%) PCa patients and in 13 out of 62 (21 %) BPH men. In APC gene, methylated levels have been found in 61 out of 89 (68.5%) PCa patients and in 8 out of 62 (12.9%) BPH men. MDR1 gene was found to be hypermethylated in 60 out of 89 (67.4%) PCa patients and in 4 out of 62 (6.5%) BPH men. In addition, we obtained a sensitivity of 88.99% and a specificity of 85.5% for the multigene panel. The AUC in this case was 0.927. Conclusion The analysis of a multigene panel of three methylated genes in prostate cancer by qMSP, can be used to distinguish between men with malignant and benign prostatic diseases from voided urine specimens. Also, it can be used for the follow-up of those men who are presenting increased risk of prostate cancer by noninvasive methods