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L. S. J. Medina, Paula B. Paz Sepúlveda, V. Ramallo, C. Sala, Julieta Beltramo, Marisol Schwab, J. Motti, M. R. Santos et al.

abstract:Haplogroup Q originated in Eurasia around 30,000 years ago. It is present in Y-chromosomes from Asia and Europe at rather low frequencies. Since America is undoubtedly one of the continents where this haplogroup is highly represented, it has been defined as one of the founding haplogroups. Its M3 clade has been early described as the most frequent, with pan-American representation. However, it was also possible to find several other haplogroup Q clades at low frequencies. Numerous mutations have been described for haplogroup Q, allowing analysis of its variability and assignment of its geographic origin. We have analyzed 442 samples of unrelated men from Argentina and Paraguay belonging to haplogroup Q; here we report specifically on 27 Q (xM3) lineages. We tested 3 single-nucleotide polymorphisms (SNPs) by amplified product-length polymorphism (APLP) analysis, 3 SNPs for restriction fragment length polymorphism (RFLP) analysis, 15 SNPs by Sanger sequencing, and 17 short tandem repeats (STRs). Our approach allowed us to identify five subhaplogroups. Q-M3 and Q-CTS2730/Z780 are undoubtedly autochthonous lineages and represent the most frequent subhaplogroups, with significant representation in self-defined aboriginal populations, and their autochthonous status has been previously described. The aim of present work was to identify the continental origin of the remaining Q lineages. Thus, we analyzed the STR haplotypes for the samples and compared them with haplotypes described by other authors for the rest of the world. Even when haplogroup Q lineages have been extensively studied in America, some of them could have their origin in post-Columbian human migration from Europe and Middle East.

ABSTRACT Six blood groups (Rh, MN, Duffy, Kidd, Kell, and Lutheran) were investigated among three major ethnic groups (Bosniaks, Bosnian Croats, and Bosnian Serbs), as well as 10 regional subpopulations across Bosnia and Herzegovina (B&H): Krajina; Posavina; northeastern, eastern, middle, and central Bosnia; Sarajevo region; eastern, central, and western Herzegovina. This is the first study that introduces the molecular genetic typing of five blood groups within the B&H population, with the exception of the RhD blood group. The sample consisted of 450 buccal swabs from unrelated individuals. Five blood group systems (RhD, RhC, RhE, Kidd, MN) were genotyped by PCR with sequence specific primers, while three blood group systems (Kell, Duffy, Lutheran) were genotyped by the PCR-restriction-fragment-length polymorphism method. Minor variation of genetic diversity was observed within the three major B&H ethnic groups, as well as within the 10 subpopulations stratified according to geographical criteria. No genetic differentiation among ethnic groups was noticed. These results are in agreement with the results of previous studies based on different molecular genetics markers, which indicate that the three B&H ethnic groups belong to the same gene pool. A similar level of genetic variance was observed within regional subpopulations, with no significant genetic differentiation among them. Comparison of intrapopulation genetic diversity of the B&H population with other European and non-European populations, based on three loci (RHD, MN, and KEL), clearly show that the level of genetic diversity of the B&H population is within the European range.

Six blood groups (Rh, MN, Duffy, Kidd, Kell, and Lutheran) were investigated among three major ethnic groups (Bosniaks, Bosnian Croats, and Bosnian Serbs), as well as 10 regional subpopulations across Bosnia and Herzegovina (B&H): Krajina; Posavina; northeastern, eastern, middle, and central Bosnia; Sarajevo region; eastern, central, and western Herzegovina. This is the first study that introduces the molecular genetic typing of five blood groups within the B&H population, with the exception of the RhD blood group. The sample consisted of 450 buccal swabs from unrelated individuals. Five blood group systems (RhD, RhC, RhE, Kidd, MN) were genotyped by PCR with sequence specific primers, while three blood group systems (Kell, Duffy, Lutheran) were genotyped by the PCR-restriction-fragment-length polymorphism method. Minor variation of genetic diversity was observed within the three major B&H ethnic groups, as well as within the 10 subpopulations stratified according to geographical criteria. No genetic differentiation among ethnic groups was noticed. These results are in agreement with the results of previous studies based on different molecular genetics markers, which indicate that the three B&H ethnic groups belong to the same gene pool. A similar level of genetic variance was observed within regional subpopulations, with no significant genetic differentiation among them. Comparison of intrapopulation genetic diversity of the B&H population with other European and non-European populations, based on three loci (RHD, MN, and KEL), clearly show that the level of genetic diversity of the B&H population is within the European range.

Interspecific hybridization in the Cyprinidae family has been recorded worldwide, with Abramis brama (bream) and Rutilus rutilus (roach) as one of the often-reported hybridizing pairs. The only account of such an event in Bosnia and Herzegovina has been in Modrac Reservoir. Using morphological and molecular markers, the presence of hybrids was surveyed, the hybridization direction was determined and the hybrid group structure in this ecosystem was evaluated. Our findings confirmed unhindered natural hybridization between roach and bream in Modrac Reservoir. Over 50% of the hybrid specimens were classified as F 2 hybrids by the NewHybrids software, while the rest were categorized as pure parental form, making it the first such finding in Europe. The analysis of mitochondrial cytochrome b showed that 90% of hybrid individuals were of bream maternal origin. The hybrid group expressed higher mean values of observed heterozygosity and gene diversity than both parental species. Signs of introgressive hybridization between parental species were detected. The hybrid zone of Modrac Reservoir appears to follow the intermediate or “flat” hybrid model based on the balanced distribution of parental and hybrid genotypes. Further investigation is needed to elucidate the factors that enable the survival and mating success of post-F 1 individuals.

Abstract The most commonly farmed fish species in Bosnia and Herzegovina’s aquaculture are from the family Salmonidae, including brook trout Salvelinus fontinalis which is reared both for consumption and stocking purposes. A number of farmers complained about the elevated frequency of anatomical deformities in the smolts and fingerlings of brook trout, decreasing their fitness rate and causing significant financial loss. Since it has been shown that occurrence of deformities is correlated with the low genetic diversity and high inbreeding, this study aimed to assess intra- and interpopulation diversity of Salvelinus fontinalis from different freshwater fish farms in Bosnia and Herzegovina by observing variation in mitochondrial and nuclear genome. Total of 109 samples of brook trout from three hatcheries located at the Neretva River were analyzed for the mitochondrial control region and seven nuclear microsatellite loci. Both PCR-RFLP and sequencing revealed only one haplotype of the control region in all investigated trout. Overall, a low number of genotypes was evident across all the observed loci. Values of genetic diversity and polymorphic information content followed the increase in the number of alleles per locus. In general, values of inbreeding coefficient were generally very high, while the genetic diversity and observed heterozygosity had low rates. The results of our study are congruent with the findings of previous studies in which developmental deformities were concomitant with the low genetic diversity and inbreeding depression. It is, therefore, strongly advised to regularly supplement the broodstock with new, unrelated individuals, as it is of vital importance for sustaining a satisfying level of genetic diversity and preventing inbreeding depression. Additionally, maintaining good management practices regarding the fluctuation of water temperature, exposure to pollution, nutrition, etc., will further contribute to the prevention of this detrimental condition.

A. Pilav, N. Pojskić, Abdurahim Kalajdžić, A. Ahatović, M. Dzehverovic, J. Cakar

Abstract Background: Bosnia and Herzegovina is a multinational and multireligious country, located in the western part of the Balkan Peninsula. Migrations through history were a key factor in the genetic identity of the Bosnian–Herzegovinian population. Aim: To analyse genetic polymorphisms of 22 autosomal short tandem repeat (STR) loci in the population of Bosnia and Herzegovina and to compare STR allele frequencies for STR loci with the reference data for European populations. Subjects and methods: The study was conducted among 600 unrelated individuals from all regions of Bosnia and Herzegovina. Genotyping was performed using the PowerPlex® Fusion amplification kit. Allele frequencies and statistical parameters were calculated, as well as the genetic distance among analysed populations through the construction of a neighbor-joining dendrogram. Results: STR loci included in the PowerPlex® Fusion amplification kit showed high discriminatory power indicating their reliability for human identification and paternity testing. The neighbor-joining dendrogram based on the results of genetic distance analysis showed that the Bosnian and Herzegovinian population has the greatest genetic distance from Turkish and Hungarian populations and greatest similarity with Croatian, Slovenian, and Serbian populations. Conclusion: The results of this study strongly support the application of 22 autosomal genetic markers for paternity testing and personal identity testing and are in agreement with most previous human studies in the investigated human populations.

Objectives: The global burden of the current severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causing the corona virus disease-19 (COVID-19) is enormous No definitive treatment and prophylactic guidelines for COVID-19 currently exist except for physical distancing and aerial barriers between individuals This work explored the natural compound-binding efficiency of SARS-CoV-2 proteins essential for host cell interaction and infection Methods: The binding activity of artemisinin to SARS-CoV-2 spike glycoprotein (Protein Data Bank (PDB) ID: 6VYB), SARS-CoV-2 main protease (3C-like main protease (3CLpro);PDB ID: 6Y84) and SARS-CoV-2 papain-like protease (PLpro;PDB ID: 6W9C), were tested using in silico methods Moreover, chloroquine and hesperidin were used as the positive control of binding affinity and proven therapeutic effect, respectively Results: The highest affinities for binding to all tested SARS-CoV-2 proteins are observed for hesperidin (-5 8,-10 0, and -8 1 kcal/mol), then for artemisinin (-4 8,-8 3, and -6 0 kcal/mol), and the lowest for chloroquine (-4 1,-8 2, and -4 8 kcal/mol) Artemisinin, hesperidin, and chloroquine had similar positioning toward targeted proteins at specific sites when these interactions were visualized Conclusion: This study shows that artemisinin has the potential to bind and inhibit the SARS-CoV-2 spike protein, the 3CLpro main protease, and PLpro proteinase similar to hesperidin and chloroquine that have been proven as antivirals in previous preclinical and clinical studies

Berina Zametica, Sonja Mačar, Abdurahim Kalajdžić, A. Pilav, M. Dzehverovic, J. Cakar

Mutation analysis in forensic genetics and occurrence of mutations at short-tandem repeat (STR) loci, are very important in paternity testing and precise elucidation of obtained genetic profiles. To determine these locus-specific mutations in Bosnian-Herzegovinian population and their rate, 15 or 22 autosomal loci were typed using PowerPlex 16 and PowerPlex Fusion systems. In total, 1253 individuals within 583 parenthood testing cases were profiled at the Institute for Genetic Engineering and Biotechnology, University of Sarajevo during the period from 2009-2018. Out of total cases, in 13 cases 14 mutations were discovered at 11 loci. Among all tested DNA profiles two mutations occurred at D8S1179, D18S51 and FGA loci each, and one mutation at PENTA D, D3S1358, CSF1P0, D21S11, D5S818, vWA, D16S539, PENTA E. Mutation rates were calculated for 11 loci and were in consistency with mutation rates reported for correspondent locus. In our study, one mutation at locus PENTA D derives from maternal source. Also in one trio paternity case two single-step mutations at loci D16S539 and D18S51 were observed. Our results confirmed mutation analysis is important in paternity testing and therefore much attention should be directed at their analysis

Cris E. Hughes, Mary P Rogers, A. Owings, Barbara Petzelt, Joycelynn Mitchell, Harold Harry, Theresa Williams, Dena Goldberg et al.

This study presents genetic data for nine Native American populations from northern North America. Analyses of genetic variation focus on the Pacific Northwest (PNW). Using mitochondrial, Y chromosomal, and autosomal DNA variants, we aimed to more closely address the relationships of geography and language with present genetic diversity among the regional PNW Native American populations. Patterns of genetic diversity exhibited by the three genetic systems were consistent with our hypotheses: genetic variation was more strongly explained by geographic proximity than by linguistic structure. Our findings were corroborated through a variety on analytic approaches, with the unrooted trees for the three genetic systems consistently separating inland from coastal PNW populations. Furthermore, analyses of molecular variance support the trends exhibited by the unrooted trees, with geographic partitioning of PNW populations (FCT = 19.43%, p = 0.010 ± 0.009) accounting for over twice as much of the observed genetic variation as linguistic partitioning of the same populations (FCT = 9.15%, p = 0.193 ± 0.013). These findings demonstrate a consensus with previous PNW population studies examining the relationships of genome-wide variation, mitochondrial haplogroup frequencies, and skeletal morphology with geography and language.

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