Search

Combined use of biallelic and microsatellite Y-chromosome polymorphisms in finding affinities among African populations is discussed. Seven biallelic polymorphic sites were studied to define Y-chromosome haplotypes. Data was combined with those from four dinucleotide-repeat polymorphisms. The object was to establish Y-chromosome compound superhaplotypes. Geographic closeness seems better as a predictor of genetic affinity than language and genetic similarities.

Keywords: forensic science; forensic science laboratory; research integrity; Africa; bias; oversight; networks; mentoring EN forensic science forensic science laboratory research integrity Africa; bias oversight networks mentoring 295 302 8 02/01/22 20211201 NES 211201 I If the law has made you a witness, remain a man [practitioner i [1] I ] of science. Missing one of these key mechanisms in a national forensic science ecosystem will undermine the value that forensic science may offer to the justice system. Networks, mentoring, research integrity, forensic science, forensic science laboratory, Africa; bias, oversight. [Extracted from the article]

In South Africa, forensic scientists have joined forces to form a professional body that represents the forensic science sector. The negative impact of an unaccredited national deoxyribonucleic acid (DNA) laboratory and unregulated forensic science profession will take a significant effort to undo and will not be accomplished without interventions at various levels. In this regard, science has not served justice. At present, despite the national DNA laboratory testifying (since 2001) that accreditation is under way, to our knowledge the only independent audit of data generated by this national laboratory has been when independent experts were contracted to perform technical audits on a case-by-case basis. This situation is untenable in the pursuit of justice at the national level. A lack of accountability, both at the professional and institutional levels, in any sector, breeds complacency and eventually has detrimental effects on the delivery of justice to citizens. Despite the late hour, concerted actions can turn the tide and allow science to serve justice. [ABSTRACT FROM AUTHOR]

The practice of forensic science has changed irrevocably in South Africa in 2017 with the request by the media to live-stream the State vs van Breda court case. The entire trial was broadcast and continues to be accessible on YouTube. Legal professionals are not formally trained with respect to DNA-specific testimony or DNA evidence. Although DNA experts are familiar with presenting DNA evidence to the legal profession and to Court in order to serve justice, the addition of live streaming by the media in the Court environment is a recent development. It is evident that the goals of practitioners of science, law and media are different in a court case. It would be ideal to have informed journalists reporting on the scientific and legal aspects of a case. In the absence of this, the public primarily receives information that is presented for other purposes, rather than for its accuracy. It is thus crucial that forensic scientists in South Africa, and elsewhere, engage in public forums as well as with the media in order to achieve appropriate dissemination of scientific evidence delivered in Court. A concerted effort is required by forensic experts to adapt to this new reality in South Africa. [ABSTRACT FROM AUTHOR]

Examines the mtDNA variations of Kung and Khwe individuals using high-resolution RFLP analysis and control region sequencing in South Africa. Combination of the resulting data with RFLP haplotype and CR data from sub-Saharan Africa; Inclusion of Kung and Khwe mtDNA to the major mt DNA lineage; Comparison between the Kung and Khwe CR sequence with other African population.

The article focuses on Protection of Personal Information Act (POPIA or the Act), No. 4 of 2013, will come into effect. Topics include Act will have implications for all research activities that involve the collection information, POPIA provides for the development of Codes of Conduct to guide the interpretation of the Act with respect to a particular sector information, and Codes of Conduct are particularly important for providing for prior authorisations in terms of Section 57 of POPIA.

The article discusses the Academy of Science of South Africa's (ASSAf) study about the ethical, legal and social implications (ELSI) of human genetics and genomics work in the country. Topics discussed include the thematic areas of the study such as building relationships, respect for persons and good stewardship, the recommendations to develop human capacity and material resources, and the call for the appropriate training of healthcare professionals in genetics and genomics.

The article offers information on optimistic vision for biosciences in South Africa including interests and rights of both the individual and the collective which are related to autonomy and privacy.

Genomic research and biobanking has undergone exponential growth in Africa and at the heart of this research is the sharing of biospecimens and associated clinical data amongst researchers in Africa and across the world. While this move towards open science is progressing, there has been a strengthening internationally of data protection regulations that seek to safeguard the rights of data subjects while promoting the movement of data for the benefit of research. In line with this global shift, many jurisdictions in Africa are introducing data protection regulations, but there has been limited consideration of the regulation of data sharing for genomic research and biobanking in Africa. South Africa (SA) is one country that has sought to regulate the international sharing of data and has enacted the Protection of Personal Information Act (POPIA) 2013 that will change the governance and regulation of data in SA, including health research data, once it is in force. To identify and discuss challenges and opportunities in the governance of data sharing for genomic and health research data in SA, a two-day meeting was convened in February 2019 in Cape Town, SA with over 30 participants with expertise in law, ethics, genomics and biobanking science, drawn from academia, industry, and government. This report sets out some of the key challenges identified during the workshop and the opportunities and limitations of the current regulatory framework in SA., Competing Interests: No competing interests were disclosed.

The CYP3A4 enzyme is the most abundant human cytochrome P450 (CYP) and is regarded as the most important enzyme involved in drug metabolism. Inter-individual and inter-population variability in gene expression and enzyme activity are thought to be influenced, in part, by genetic variation. Although Southern African individuals have been shown to exhibit the highest levels of genetic diversity, they have been under-represented in pharmacogenetic research to date. Therefore, the aim of this study was to identify genetic variation within CYP3A4 in three South African population groups comprising of 29 Khoisan, 65 Xhosa and 65 Mixed Ancestry (MA) individuals. To identify known and novel CYP3A4 variants, 15 individuals were randomly selected from each of the population groups for bi-directional Sanger sequencing of ~600 bp of the 5'-upstream region and all thirteen exons including flanking intronic regions. Genetic variants detected were genotyped in the rest of the cohort. In total, 24 SNPs were detected, including CYP3A4(*)12, CYP3A4(*)15, and the reportedly functional CYP3A4(*)1B promoter polymorphism, as well as two novel non-synonymous variants. These putatively functional variants, p.R162W and p.Q200H, were present in two of the three populations and all three populations, respectively, and in silico analysis predicted that the former would damage the protein product. Furthermore, the three populations were shown to exhibit distinct genetic profiles. These results confirm that South African populations show unique patterns of variation in the genes encoding xenobiotic metabolizing enzymes. This research suggests that population-specific genetic profiles for CYP3A4 and other drug metabolizing genes would be essential to make full use of pharmacogenetics in Southern Africa. Further investigation is needed to determine if the identified genetic variants influence CYP3A4 metabolism phenotype in these populations.

The role of MT (metallothionein) gene expression was investigated in rotenone-treated HeLa cells to induce a deficiency of NADH:ubiquinone oxidoreductase (complex I). Complex I deficiency leads to a diversity of cellular consequences, including production of ROS (reactive oxygen species) and apoptosis. HeLa cells were titrated with rotenone, resulting in dose-dependent decrease in complex I activity and elevated ROS production at activities lower than 33%. Expression of MT2A (MT isoform 2A), but not MT1A or MT1B RNA, was significantly inducible by rotenone (up to 7-fold), t-BHP (t-butyl hydroperoxide; 5-fold) and CdCl2 (50-fold), but not ZnCl2. Myxothiazol treatment did not elevate either ROS or MT2A levels, which supports a ROS-related mechanism for rotenone-induced MT2A expression. To evaluate the role of MT2A expression, MT2A and MT1B were overexpressed in HeLa cells and treated with rotenone. Compared with control and MT1B-overexpressing cells, ROS production was significantly lower and cell viability higher in MT2A-overexpressing HeLa cells when ROS production was enhanced by treatment with t-BHP. Mitochondrial membrane potential was noticeably less reduced in both MT-overexpressing cell lines. MT2A overexpression in rotenone-treated cells also significantly reduced or delayed apoptosis induction, as measured by caspase 3/7 activity and cytosolic nucleosome enrichment. We conclude that MT2A offers significant protection against the main death-causing consequences of rotenone-induced complex I deficiency in HeLa cells. Our results are in support of the protective role against oxidative stress ascribed to MTs and provide evidence that MT2A expression may be a beneficial downstream adaptive response in complex I-deficient cells.