DNA Bank Research Articles

Hereditary transthyretin amyloidosis caused by Val142Ile variant in Spain: phenotypic characteristics, geographic distribution and population frequency

Abstract Background During recent years, several cases of hereditary transthyretin amyloidosis (ATTRv) due to p.Val142Ile have been described in patients without African ancestry in countries like Japan, Spain or Italy (1,2,3,4). All this evidence suggests that p.Val142Ile might be more prevalent than expected worldwide. Objectives The aim of this study was to analyze the impact of ATTRv caused p.Val142Ile in Spain to define its phenotypic characteristics, to explore endemic geographical areas and define its population frequency. Methods Patients diagnosed with ATTRv caused by p.Val142Ile and carriers irrespective of their phenotype were recruited from 16 centers in Spain. Baseline characteristics and events during follow-up were retrieved. Population frequency was assessed through the Spanish National DNA bank (N=3,569) and the Catalan Health Databank (N=790). Results The cohort included information regarding 164 subjects (75 probands [45.7%] and 89 relatives [54.3%]). Among probands, mean age was 73.9 ± 8.5 years and 47 (62.7%) were males. 67 probands (89.3%) had self-declared European ancestry and only 6 cases (8%) referred African or Afro-American ancestry. Cardiac symptoms were the most frequent reason leading to ATTRv diagnosis (N=64, 85.3%) followed by incidental finding (N=8, 10.7%) and neurologic symptoms (N=3, 4%). (Figure 1). Median follow-up was 1.6 years (Interquartile range 0.6-3.2). Neurologic involvement was observed in 35 probands (46.7%) at first evaluation or during follow-up. Overall penetrance at 65, 75 and 85 years was 12.8%, 44.3% and 94.2% respectively. Male sex was associated with earlier penetrance than women (P = 0.02). 38 patients initiated treatment with tafamidis during follow-up (28 [73.7%] 20 mg and 10 [26.3%] 61 mg), despite treatment, disease progression at 1 year (cardiovascular death or 30% increase of NTProBNP) was observed in 10 patients (40%). Population frequency was estimated between 0.0% and 0.12% based on the Spanish and Catalan databases respectively. Birthplace of probands suggests a higher prevalence in the Mediterranean basin. (Figure 2) Conclusions Our data suggests that ATTRv caused by p.Val142Ile has a significant prevalence in Spain, mostly in some specific regions. Phenotypic features are defined by late onset, male predominance, and cardiac involvement although a significant proportion develop neuropathy. Disease progression was observed in 40% of patients despite disease-modifying therapies.

Mapping the locus for ocular melanosis in Cairn Terriers.

To map the disease locus for familial ocular melanosis (OM) in the Cairn Terrier. Cairn Terriers with OM and normal control dogs. A genome-wide association study (GWAS) was performed using 63 OM-affected and 31 control Cairn Terriers, followed by haplotype analysis. A significantly associated single-nucleotide polymorphism was genotyped in a larger group of OM-affected and control Cairn Terriers. The coding and splice-site regions of genes mapping within the confidence interval were sequenced. A ~9.2 Mb region of chromosome 11 was significantly associated with OM. Haplotype analysis narrowed the region to 1.49 Mb. Genotyping of a SNP within the region showed 86% of OM-affected dogs were homozygous or heterozygous for the risk allele, whereas 78% of unaffected dogs were homozygous for the nonrisk allele. Sequencing of the coding regions and splice sites of four genes (c9orf72, IFNK, the 5' end of MOB3B, and the 3' end of LINGO2) and of a microRNA (MIR876) did not detect any genetic variants unique to OM-affected dogs. OM in Cairn Terriers maps to a 1.49 Mb region of chromosome 11. This accounts for 86% of OM cases in our DNA bank. A second locus may account for the OM phenotype in the remaining 14% of cases. Sequencing of coding regions and splice sites of positional candidate genes and a microRNA did not reveal any genetic variants unique to affected dogs. Further studies are required to elucidate the DNA variant causal for OM in Cairn Terriers and to understand the disease mechanism.

What Has the Sudden Unexpected Infant Death and Sudden Death in the Young Case Registry Learned About Consenting Families for DNA Banking and/or Genomic Research?

Since 2015, the Sudden Unexpected Infant Death (SUID) and Sudden Death in the Young (SDY) Case Registry has characterized sudden and unexpected deaths among young people (0-20 years). Families may provide informed consent to save biospecimens for banking and/or genomic research. We reviewed all consent-eligible cases to describe the frequency, time from death to consent, type (paper, phone, or electronic), and staffing method (Medical Examiner Office-based bereavement counselor vs outsourced genetic counselor). Of 5438 cases from January 2015 to January 2022, 3498 (64%) were eligible for consent and 391 (11%) were successfully consented. Half (54%) were obtained within 60 days of the death, 39% within 48 hours. Most were paper based (73%); 23% were obtained by phone, and 4% electronically. Consent rates varied by site from 3% to 66%. Higher consent rates were achieved within a Medical Examiner Office by a social worker or death investigator. Only 3% of consents attempted by a contracted genetic counselor were successful. Identified barriers include lack of available contact information, inability to reach family using the collected information, and lack of response when contacted. Consent rates were highest shortly after death when families were contacted by the Medical Examiner Office as part of bereavement outreach.

Conservation and Utilization of Summer Crops Biodiversity in Nepal

Nepal faces a pressing challenge with the alarming loss of around 50% of its summer crop genetic resources (SCGRs) and the endangerment of native landraces. To combat this decline, the national genebank in Nepal has developed 101 good practices for agricultural genetic resources (AGRs) conservation and utilization. Red zoning and red listing strategies aid in identifying conservation priorities. The Genebank collaborates with stakeholders to collect, characterize, and promote SCGRs, resulting in 6177 accessions representing 71 summer crop species stored in Seed Banks. Diverse conservation repositories include genebanks, tissue banks, DNA banks, community genebanks, school field genebanks, and agro-gene sanctuaries. In 2022, 724 accessions of 20 summer crops were distributed for research, while the registration of 19 landraces after genetic enhancements led to their inclusion under the National Seed Board. The free distribution of germplasm accelerates its utilization, further facilitated by online access. The genebank also promotes agro-insect field genebanks recognizing the importance of agro-insects and pollinators in biodiversity conservation. To maintain native SCGRs, value additions are emphasized, underlining the need to actively enhance genetic diversity in agricultural fields. These comprehensive measures underscore Nepal’s commitment to safeguarding agrobiodiversity, ensuring food security, and bolstering agricultural resilience to climate and other stresses.

O-181 It takes more than genes to build a family

Abstract Sperm donation has been known to mankind possibly for a very long time, although first medical reports come from the late 18th century. Initially, most inseminations in married couples were homologous, involving the husband’s semen. The first publicized breakthrough that came in 1884 would today be considered unethical, as an anesthetized woman was subjected to an injection of semen from a handsome (as duly reported) student of medicine, without any consent of both her and her spouse. The veil of secrecy that covered heterologous insemination was finally lifted when Dr Mary Barton openly acknowledged the practice in her clinic and published the first manual on “artificial insemination.” It set the ethical standards for such procedures—including mutual anonymity of donors and recipients and maintaining absolute secrecy of the fact of donor insemination—for decades to come. The cost was of course the lost identity of the conceived children and the often reported emotional detachment of the fathers from their social, but not genetical, offspring. The grave consequences of the limited pool of donors were yet to be discovered with the advent of DNA testing. In the UK, Barton’s husband and another collaborator were confirmed to father at least 100 children each. In the Netherlands, the country was shaken by the case of Jan Karbaat who used the sperm of an anonymous donor—who probably should not have even passed psychological screening—to bring more than 200 babies to the world. Suddenly, lots of adults learnt of the existence of their never expected siblings. Concomitantly, more and more parents revealed the fact of donor conception to their children motivated by openness. The secrets could not be held any longer and Joanna Rose was the first British woman that won a court case in 2002 against her own country that was wilfully breaking her right to respect for private and family life guaranteed by European Convention on Human Rights. The proponents of open donation found support also in Convention on the Rights of the Child. More and more countries started enforcing either open or at least double-track donation from then on. However, even more legislations blissfully ignore these ethical developments and maintain complete anonymity of the donor insemination procedures. This is where my personal story begins, as a father of twins born in 2012 from in vitro fertilization thanks to the semen of an anonymous donor. At that time, Poland even did not have an actual law on fertility treatment. The ART centres adopted their own policies on anonymous donation and signed contracts with their patients on a case by case basis. The legal status in my country was further cemented with the long overdue adoption in 2015 of Act on Fertility Treatment that forbids non-anonymous donation and even excludes the prospective parents from the decision process on the choice of the donor. The burden of partially lost identity of my kids will be with me possibly my entire life. But I don’t want it to cast a shadow on our family relations. We have to deal with my non-genetic fatherhood one way or another. We maintain our family ties in full knowledge of the fact of the existence of some unnamed benefactor that made this possible. Maybe one day my children will find some unsuspected genetic relatives via increasingly popular public DNA banks if they choose so, thus sticking together parts of their identity. Only time will tell.

Conservation and Landscape Evaluation of Some Endangered Species in Türkiye

In addition to in-situ conservation activities related to endangered taxa, it has a great importance to provide ex-situ conservation activities to increase awareness and to determine their usage areas by examining reproduction methods. In the line with, the aim of the study is to prevent the extinction of some endangered endemic taxa in Ayaş, Beypazarı and Nallıhan regions of Ankara province in Türkiye, to evaluate the taxa within the framework of sustainable conservation and use principles by raising awareness, and thus to protect the biodiversity in the region. For these purposes, during their vegetation periods throughout the years 2020-2022, some observations were recorded in landscape point of view from the habitats of 9 Critically Endangered (CR) and 3 Vulnerable (VU) taxa. Moreover, all the taxa are photographed and have been archived in the Collections of National Botanical Garden of Türkiye (NBGT) as National Herbarium (TC), DNA and Tissue Banks. Also, samples have been kept in 70% EtOH for Microscobic Slide Collection of NBGT. In addition, the possibilities of using taxa in the landscape area were evaluated. The results of the habitat observations for years serve as a basis for future conservation and landscape gain efforts for the taxa.

Genetic variation in two candidate genes against gastrointestinal parasites in Colombian Hair Sheep

Objective. To characterize two SNP-type genetic polymorphisms in the GLI1 (rs411868094) and IL20RA (rs419463995) genes, candidates for resistance against gastrointestinal parasites in two biotypes of Colombian hair sheep. Materials and methods. From the DNA bank of the Animal Genetics Laboratory of the University of Sucre, 167 samples, belonging to the Ethiopian (n=94) and Sudan (n=73) biotypes, were analyzed by PCR and subsequent bidirectional sequencing of two SNPs in the GLI1 (T>G) and IL20RA (G>A) genes. Allelic and genotypic frequencies, observed (Ho) and expected (He) heterozygosity, F index, and Hardy-Weinberg equilibrium deviations (EHW) were calculated using the GENALEX version 6.5 program. Results. For the GLI1 locus, the mean genotypic frequencies were 0.155±0.07, 0.370±0.07, and 0.475±0.07 for GG, GT, and TT, respectively. In the Ethiopian biotype, the highest frequencies of the genotype of interest (GG) were found. For the IL20RA locus, the AA and AG genotypes had similar and the highest frequency (0.465±0.03) compared to the GG genotype (0.110±0.01). The genotype of interest at this locus (AA) was the most frequent in both OPC biotypes. Conclusions. The alleles of interest associated with low FEC had a low frequency for the GLI1 gene, but a high frequency for IL20RA. The Ethiopian OPC biotype showed the highest frequencies of the genotypes of interest.

Gene Association Study of the Urokinase Plasminogen Activator and Its Receptor Gene in Alzheimer's Disease.

The role of the innate immune system has long been associated with Alzheimer's disease (AD). There is now accumulating evidence that the soluble Urokinase Plasminogen Activator Receptor pathway, and its genes, PLAU and PLAUR may be important in AD, and yet there have been few genetic association studies to explore this. This study utilizes the DNA bank of the Brains for Dementia Research cohort to investigate the genetic association of common polymorphisms across the PLAU and PLAUR genes with AD. TaqMan genotyping assays were used with standard procedures followed by association analysis in PLINK. No association was observed between the PLAU gene and AD; however, two SNPs located in the PLAUR gene were indicative of a trend towards association but did not surpass multiple testing significance thresholds. Further genotyping studies and exploration of the consequences of these SNPs on gene expression and alternative splicing are warranted to fully uncover the role this system may have in AD.

Insights into the germplasm conservation and utilization: Implications for sustainable agriculture and future crop improvement

Plant genetic resources are critical for maintaining global biodiversity and ensuring food security. However, these resources face threats from factors such as habitat loss and climate change, with approximately 22% of plant species estimated to be at risk of extinction. To address this issue, both natural and biotechnological methods are being developed to preserve plant genetic resources, with germplasm being a key component. Germplasm contains the complete genetic information of a plant and can be stored for extended periods and replicated as required. The objective of this study is to emphasize the importance of preserving germplasm of endangered or near-extinct plant species through in situ and ex situ conservation methods. In situ conservation involves conserving species in their natural environment, while ex situ conservation includes using gene-seed banks and tissue culture to store genetic resources. These methods are crucial for maintaining genetic diversity and preventing the loss of valuable plant resources. The study highlights the various ex situ conservation methods, including cryopreservation, pollen and DNA banks, farmer's fields, botanic gardens, genetic reserves, and slow-growing cultures, which are essential for preserving germplasm. Gene banks worldwide currently hold over 7.4 million accessions of crop genetic resources, demonstrating the value of germplasm conservation efforts. Additionally, understanding the phenotypic and genetic characterization of related species is crucial for identifying endangered or vulnerable species that can diversify into new varieties or subspecies. In conclusion, prioritizing germplasm conservation efforts is crucial for meeting future demands while preserving endangered or vulnerable species. This will ensure that plant genetic resources remain available for future generations and that agricultural innovation can effectively address global food security challenges.

Genetic Associations of Oral Clefts in Arabs.

This study aims to investigate genetic association between Non-syndromic Cleft lip with or without palate (NCLP) and 14 specific Single Nucleotide Polymorphism (SNPs) reported to be associated with NCLP from previous Genome Wide Association Studies (GWAS). A prospective case-control study. Ministry of Health (MOH) Cleft and Craniofacial Clinic and Kuwait University. One hundred sixty-four NCLP patients were recruited from MOH Cleft and Craniofacial clinic, and 491 controls from the Kuwait DNA bank established at Kuwait University. Total gDNA was extracted from whole blood withdrawn from patients and genotyped by real time PCR. Hardy-Weinberg Equilibrium was tested, and the set p value for significance (p < 0.05) was adjusted using the Benjamini - Hoochberg procedure to achieve 5% false discovery rate. Logistic regression multivariate analysis was used to test statistically significant differences between cases and controls. Genotyping both groups for the variants was determined through the allele discrimination software program. There was statistically significant difference between cases and controls in relation to two SNPs; LOC102724968 (rs13041247) (MAF cases/control = C (0.28/0.39) OR Homozygous = 1.30; 95% CI = 1.09-1.56, p = 0.0041) and PVT1 (rs987525) (MAF cases/control = A (0.41/0.27) OR heterozygous = 1.48; 95% CI =1.12-1.95, p = 0.0073), increasing the susceptibility to NCLP. Genetic variations are associated with the occurrence of oral clefts. Customized Next Generation Sequencing (NGS) panel to the Arab ethnicity is encouraged. In Addition, national preconception genetic carrier screening tests should expand to include common craniofacial anomalies.

Genome-wide association meta-analysis of 5,864 individuals highlights 25 new loci implicated in the pathogenesis of cancer therapy-related cardiac dysfunction

Abstract Background Cancer therapy-related cardiac dysfunction, which commonly includes varying degrees of asymptomatic ventricular dysfunction and/or heart failure, is the main adverse effect of anticancer therapy. The mechanism by which it develops is still quite uncertain. In recent years several genetic association studies have identified common genetic variants associated with cardiotoxicity in genes related to DNA damage, drug transportation and metabolism, antioxidant mechanism, sarcomere dysfunction and impaired iron metabolism, but the evidence is still limited. Rare variants in familial cardiomyopathies genes have also been identified. Purpose This uncertainly requires larger studies to identify genetic variants allowing to predict the risk of cardiotoxicity. In this sense, we carry out a genome-wide association meta-analysis to identify genetic variants associated with cancer therapy-related cardiac dysfunction. The development of a risk predictor model combining clinical and genetic factors would make it possible to anticipate the adverse effects of this therapy. Methods Genome wide meta-analysis was performed with a total of 594 patients from the CARDIOTOX registry and 3545 healthy individuals from the National DNA Bank, together with three previously published independent cohorts with 1446, 227 and 52 individuals receiving cancer therapy. Patients were classified with different cardiotoxicity degrees based on the CARDIOTOX registry and exhaustive clinical information was obtained from medical records. The study was ethically approved by local institutional review boards and all participants provided written informed consent. DNA samples were genotyped and imputed to perform a GWAS meta-analysis for case-control (n=5864) and extreme phenotypes (n=5317) looking for genetic variants that predispose to developing cancer therapy-related cardiac dysfunction. A functional characterization of the significant loci was performed by colocalization with eQTLs. Results The case-control analysis showed 17 loci that achieved suggestive significance (&amp;lt; P=1 x10-5) (Figure 1). The rs6765460, an intergenic variant between TPRG1 and TP63 genes, had the strongest relationship with the development of cardiotoxicity (P=1.89x10-7). The extreme phenotypes analysis showed additional 8 loci that achieved suggestive significance. The rs12904266, an intron variant of SLCO3A1, had the strongest relationship with severe cardiotoxicity (P=3.20E-07). eQTLs colocalization of the significant loci revealed association with genes involved in the mitochondria, inflammation, immune system, and fibrosis. Conclusions Our GWAS meta-analysis identified 25 novel genetic variants that may be associated with cancer therapy-related cardiac dysfunction. Genotyping of these markers could be considered in a genetic risk score which, together with the already known clinical risk factors, would improve the cardiotoxicity prediction in cardio-oncology units.Figure 1.Miami plot with P values

Гербарии как хранители биоразнообразия и их использование (обзор)

The review presents data on the history of herbariums and fungariums, their diversity and use. It is shown that in addition to the traditional value of these objects for studying the systematics, morphology, distribution of plants and fungi, new scientific directions have emerged due to the achievements of modern science such as molecular genetic approach, genotyping, next generation sequencing. This allows identifying the molecular basis of phenotypic variability, resistance to stress, create DNA banks integrated with herbarium collections. The surviving microbial pool of herbarium samples makes it possible to isolate into a pure culture representatives of the microbiota, promising in the biotechnological aspect: for biomonitoring purposes, to create biological products of directed action against plant pathogens. Antique herbarium specimens make it possible to study the ways of migration and dispersal of plants across continents as well as expansion of epiphytoties. Analysis of the chemical composition of herbarium samples shows that the content of substances and their biological activity in many plants practically does not change over a long storage period in a dried state. At the same time, both useful biologically active substances and toxins are preserved in the studied herbarium specimens.

Study of molecular genetic markers of Gilbert’s syndrome

Aim. To study new molecular genetic markers of Gilbert’s syndrome (GS).Materials and methods. It was a case – control study. The GS group included 125 people (mean age 38.5 ± 11.9 years, 58.9% were men) with unconjugated hyperbilirubinemia; known causes of unconjugated hyperbilirubinemia were excluded. The control group (n = 323, mean age 48.9 ± 11.9 years, 53.2% were men) was a random sample of individuals from the DNA bank of participants of the HAPIEE and MONICA projects. DNA was isolated by phenol – chloroform extraction from venous blood. Genotyping of groups by rs3064744, rs34993780, rs56059937, rs4148323, and rs4124874 single nucleotide polymorphisms (SNPs) in the UGT1A1 gene was performed by polymerase chain reaction followed by the polyacrylamide gel analysis according to the author’s protocols.Results. For rs34993780 and rs56059937, no carriers of a rare allele were found in the GS group and the control group. In the GS group, two carriers of a heterozygous mutation rs4148323 were found. Statistically significant differences between the groups were found in the frequencies of rs4124874: homozygous GG was statistically significantly more common in the GS group than in the control group (odds ratio (OR) = 11.8, 95% confidence interval (CI) 6.9–20.3, p &lt; 0.001).Conclusion. The GG genotype of rs4124874 in the UGT1A1 gene is associated with an increased risk of GS. Carriers of the rare heterozygous mutation rs4148323 were found in the GS group.

Association of FGA, ITGA2, PAI-1 gene polymorphisms with pulmonary embolism

Aim. To study of the relationship between gene polymorphisms (FGA, ITGA2, PAI1) and pulmonary embolism (PE).Material and methods. We examined 120 patients with pulmonary embolism, who made up the main group (mean age, 63,22±3,16 years). There were 66 men (mean age, 60,24±3,17 years) and 54 women (mean age, 6,19±3,67 years). The control group consisted of 200 people (mean age, 64,92±3,50 years). The DNA Bank of the Research Institute of Internal and Preventive Medicine was formed during a series of population screenings. All patients signed written informed consent to participate in the molecular genetic study. The work involved the calculation of the following output data: standard deviation; mean square; Pearson chi-squared test; likelihood ratio; Fisher's exact test and linear relationship.Results. The probability of PE among women carriers of ID genotype of FGA gene rs35496957 polymorphism in the group with PE is 2,08 times higher than that in the control group (95% confidence interval (CI), 1,06-4,09; p=0,32); among women carriers of the TT genotype of ITGA2 gene rs1126643 polymorphism in the group with PE — 3,08 times compared to the control group (95% CI, 1,36-6,97; p=0,006).Conclusion. The study of genetic factors in the development of pulmonary embolism (FGA, ITGA2, PAI-1) is necessary to create a personalized approach to patient management at all stages.

Ethnobotanical Survey, Consumption Pattern and Genetic Conservation of Leafy Vegetables in South-West Nigeria

Leafy vegetables are important in human nutrition; however, their diversity as seen in the dishes in South western Nigeria appears to be diminishing. Many popular delicacies are no longer available in the markets. Therefore, this research was conducted to identify and document leafy vegetables in South West Nigeria, assess their ethnobotanical uses from questionnaires administered to farmers/sellers, secure their genetic resource base, and improve their value chain in South-West Nigeria. Vegetable samples were collected from different local communities in five South-West states in Nigeria, identified using manual/flora, and authenticated at the University of Lagos Herbarium. One thousand respondents, 200 in each state, participated in the study. Of these, 76.7% were female, while 23.3% were male. A total of twenty-six (26) leafy vegetables were collected. Twenty-one (21) species are indigenous to the study area, while five (5) species are non-indigenous. Ethnobotanical survey on leafy vegetables from farms and markets revealed that Launaea taraxacifolia, Solanum macrocarpon, Solanum nigrum, Solanum aethiopicum, Solanecio biafrae, Crassocephalum crepidioides and Basella alba are of high medicinal value. They can be used solely or as a recipe with other leafy plants in the treatment of various ailments including malaria, typhoid, blood pressure, stomach disorder, heart diseases and gastrointestinal tract infections. These vegetable species have been neglected and underutilized by humans. Generally, a low degree of consumption, extent of consumption, and cash income capacity was recorded, with exception to the commonly cultivated vegetables. Extracted DNA from the leafy vegetables yielded good-quality DNA; this has been deposited in the DNA bank at the University of Lagos. This study has documented indigenous knowledge on leafy vegetables in southwest Nigeria and contributed towards ex-situ conservation of the species in the DNA bank.&#x0D; Keywords: Leafy Vegetables, Ethnobotany, Genetic Conservation, Indigenous knowledge, Underutilized species

A survey of genetic and palliative care health professionals’ views of integrating genetics into palliative care

Genetic counselling and testing have utility for people with palliative care needs and their families. However, genetic and palliative care health professionals have described difficulties initiating palliative-genetic discussions. Between March and July 2022, we received n = 73 surveys (6% response rate) from genetic and palliative care health professionals in Australia and New Zealand that assessed and compared barriers and facilitators. The main perceived barrier to both groups was palliative care health professionals’ lack of genetic knowledge (44%). Most palliative care health professionals were ‘not at all confident’ performing several activities, including discussing DNA banking (52%) and knowing their legal responsibilities when sharing genetic information (58%). The most frequently selected facilitator for genetic health professionals was fostering close relationships with palliative care health professionals (52%), while palliative care health professionals indicated a genetic referral template (51%) would be of assistance. Almost all participants agreed genetic discussions do not undermine the central ethos of palliative care (87%). Fewer palliative care health professionals considered themselves well situated to have genetic discussions with a palliative patient’s family compared to genetic health professionals (p = 0.014). Our results suggest that genetic and palliative care health professionals support integrating genetics into palliative care, although refinement of the palliative care health professionals’ role in this process is required. We have identified intervention targets to overcome barriers related to knowledge and confidence, which ought to be integrated into future interventions designed to support health professionals deliver the benefits of genetic information to people with palliative care needs and their families.

Arctic Specimens in the Zoological Collections at the Natural History Museum, University of Oslo, Norway (NHMO)

In the NHMO zoological collections, specimens from the Arctic include about 9,000 mammals and 7,100 birds, whereas the Insect Collection holds about 105,000 specimens plus more than hundred jars with unsorted material. The Fish Collection contains approximately 1,400 specimens, while the Herptile Collection (amphibians &amp; reptiles) holds only thirty-one specimens of three taxa. Many of these specimens originate from expeditions to E Greenland, N Canada, Svalbard, Novaya Zemlya, Finnmark, and NE Siberia in the period 1898 to 1966. Furthermore, the DNA Bank has about 5,600 tissue and extracted DNA samples, mostly sampled from wild animals during the last decades but also from specimens in the voucher collections. Most of the Arctic specimens have been digitized and are available in online data portals like GBIF, except for the Insect Collection, where only the type material and about 30 percent of the total specimens are digitized.

Collections of Arctic Plants, Lichens, and Fungi in the Natural History Museum, University of Oslo, Norway

The Arctic has been, and is, an area of focus for the botanical and fungal (lichenized fungi included) collections at the Natural History Museum of Oslo. These collections house more than 233,000 unique Arctic specimens, the oldest dating back more than two centuries. The vascular plants account for 63 percent, lichens 30 percent, and fungi 7 percent. The Arctic collections have a circumpolar representation with emphasis on mainland Norway (48 percent) and Svalbard (13 percent), followed by Arctic America (10 percent), Greenland (9 percent), and Arctic Russia (8 percent). The Oslo herbarium and fungarium house collections from important polar expeditions like Fram-2, Gjøa, and Maud, but also of many expeditions where collecting biological specimens was the main purpose. The number of new collections was highest in the decades 1930 to 1939 and 2000 to 2009 with each around 35,000 new specimens. In the 1990s, a DNA Bank was established for DNA extracts and tissue samples, and it houses today 22,879 Arctic accessions of fungi, lichens, and plants. In times of climatic change and a tense geopolitical situation, the herbarium and fungarium at NHM-Oslo represent an invaluable source for biological information about the Arctic. We welcome the use of our collections for research-, nature management-, and teaching purposes.

The effects of DNA profiles: Measuring the effectiveness of DNA banks in criminal investigations in Brazil

Since 2013, the Brazilian National Bank of Genetic Profiles (BNPG) of the Integrated Network of Genetic Profiles Bank (RIBPG) has been used to aid investigations, identifying who committed a crime based on biological samples found at crime scenes or on victims, which may be substantial evidence in a criminal case. This research evaluates the extent to which the types of genetic profiles and the number of hits influence the number of investigations aided. The study used data from institutions of the RIBPG adopting the period from 2016 to 2020 and organized them in a stacked panel with 98 observations. A regression mediation model was built to estimate the influence of the independent variables “forensic unknown profiles,” “profiles of convicted offenders,” and “profiles of suspected perpetrators or legal profiles” when mediated by the “hits” variable, influence the increase of the dependent variable “investigations aided,” identified as a measure of the effectiveness of the forensic DNA banks. The results showed that the 1% increase in the variables “forensic unknown profiles” and “profiles of suspected perpetrators or legal profiles,” mediated by “hits,” was significant to produce “investigations aided.” As for the variable “profiles of convicted offenders,” there was no evidence that it contributed significantly to the increase in “hits” and “investigations aided.” The study demonstrated that the increase in “forensic unknown profiles” by 126 and “profiles of suspected perpetrators or legal profiles” by 14 led to 12 “hits” in the RIBPG, offering support to 4 cases. The variable “profiles of convicted offenders” did not show significant results in terms of “hits” and “investigations aided.”

Impact of Arg72Pro polymorphism in P53 gene in cancer susceptibility in Algerian population

TP53 is a tumor suppressor gene involved in the development of several types of cancer. It has been reported that single nucleotide polymorphism in codon 72 of this gene, causing substitution of a Proline for an Arginine, may increase the risk of carcinogenesis. The objective of this study was to assess the frequency of the Arg72Pro polymorphism and to look for a possible association between this polymorphism and the occurrence of cancer. Our study concerned 82 DNA samples collected from the DNA bank of the Laboratory of Biology and Molecular Genetics of the Constantine University 3, and grouped 2 populations: 41 controls and 41 patients with one of three types of cancer: breast cancer, cervical cancer and lung cancer. This polymorphism was detected with PCR / RFLP. The results obtained in our study revealed a significant difference between the two patient and control groups for the heterozygous CG genotype (OR = 0.13, P = 0.001), which makes it possible to conclude that the CG genotype constitutes a risk factor in the occurrence cancer. However, the study showed that there is no difference between the Pro allele and the Arg allele in the patients compared to the controls (OR = 0.95, P = 0.87), which could rule out the possible association between the Arg72Pro polymorphism and the onset of cancer.