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There is increasing attention focussed on the risks associated with mobile phones possibly serving as ‘Trojan Horse’ fomites for microbial transmission in healthcare settings. However, little is reported on the presence of microbes on community derived mobile phones which in 2021, numbered in the billions in circulation with majority being used on a daily basis. Identify viable microbial organisms swabbed from smartphones on a university campus. Entire surfaces of 5 mobile phones were swabbed and examined for their microbial content using pre-agar-based growths followed by downstream DNA metagenomic next-generation sequencing analysis. All phones were contaminated with viable microbes. 173 bacteria, 8 fungi, 8 protists, 53 bacteriophages, 317 virulence factor genes and 41 distinct antibiotic resistant genes were identified. While this research represents a pilot study, the snapshot metagenomic analysis of samples collected from the surface of mobile phones has revealed the presence of a large population of viable microbes and an array of antimicrobial resistant factors. With billions of phones in circulation, these devices might be responsible for the rise of community acquired infections. These pilot results highlight the importance of public health authorities considering mobile phones as ‘Trojan Horse’ devices for microbial transmission and ensure appropriate decontamination campaigns are implemented.

This article details the development of a single multiplex system amplifying 26 rapidly mutating Y-STR markers. A sequenced allelic ladder, constructed for calling alleles of all loci, is introduced. The multiplex system shows the ability to address the limitations of Y-STRs commercial kits in differentiating closely related males. The multiplex performed well in the prevalidation tests and showed great potential to be used in forensic casework.

Syrine Boucherabine,1,* Rania Nassar,1,2,* Lobna Mohamed,1 Matthew Olsen,3 Fatma Alqutami,1 Shroque Zaher,1 Mahmood Hachim,1 Abdulmajeed Alkhajeh,4 Simon McKirdy,5 Rashed Alghafri,3,5– 7 Lotti Tajouri,3,5,7 Abiola Senok1 1College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates; 2Oral and Biomedical Sciences, School of Dentistry, College of Biomedical and Life Sciences, Cardiff University, Cardiff, UK; 3Faculty of Health Sciences and Medicine, Bond University, Robina, QLD, Australia; 4Dubai Health Authority, Dubai, United Arab Emirates; 5Harry Butler Institute, Murdoch University, Murdoch, WA, Australia; 6General Department of Forensic Sciences and Criminology, Dubai Police, Dubai, United Arab Emirates; 7Dubai Police Scientists Council, Dubai, United Arab Emirates*These authors contributed equally to this workCorrespondence: Abiola Senok, Mohammed Bin Rashid University of Medicine and Health Sciences, Building 14, Dubai Healthcare City, P. O. Box 505055, Dubai, United Arab Emirates, Tel +97143838717, Email abiola.senok@mbru.ac.aeBackground: As high touch wearable devices, the potential for microbial contamination of smart watches is high. In this study, microbial contamination of smart watches of healthcare workers (HCWs) was assessed and compared to the individual’s mobile phone and hands.Methods: This study was part of a larger point prevalence survey of microbial contamination of mobile phones of HCWs at the emergency unit of a tertiary care facility. Swabs from smart watches, mobile phones and hands were obtained from four HCWs with dual ownership of these digital devices. Bacterial culture was carried out for all samples and those from smart watches and mobile phones were further assessed using shotgun metagenomic sequencing.Results: Majority of the participants were females (n/N = 3/4; 75%). Although they all use their digital devices at work and believe that these devices could harbour microbes, cleaning in the preceding 24 hours was reported by one individual. Predominant organisms identified on bacterial culture were multidrug resistant Staphylococcus hominis and Staphylococcus epidermidis. At least one organism identified from the hands was also detected on all mobile phones and two smart watches. Shotgun metagenomics analysis demonstrated greater microbial number and diversity on mobile phones compared to smart watches. All devices had high signatures of Pseudomonas aeruginosa and associated bacteriophages and antibiotic resistance genes. Almost half of the antibiotic resistance genes (n/N = 35/75;46.6%) were present on all devices and majority were related to efflux pumps. Of the 201 virulence factor genes (VFG) identified, majority (n/N = 148/201;73%) were associated with P. aeruginosa with 96% (n/N = 142/148) present on smart watches and mobile phones.Conclusion: This first report on microbial contamination of smart watches using metagenomics next generation sequencing showed similar pattern of contamination with microbes, VFG and antibiotic resistance genes across digital devices. Further studies on microbial contamination of wearable digital devices are urgently needed.Keywords: smart watches, mobile phones, microbial contamination, shotgun sequencing

The Hazara population across Durand line has experienced extensive interaction with Central Asian and East Asian populations. Hazara individuals have typical Mongolian facial appearances and they called themselves descendants of Genghis Khan's army. The people who speak the Balochi language are called Baloch. Previously, a worldwide analysis of Y-chromosomal haplotype diversity for rapidly mutating (RM) Y-STRs and with PowerPlex Y23 System (Promega Corporation Madison, USA) kit was created with collaborative efforts, but Baloch and Hazara population from Pakistan and Hazara population from Afghanistan were missing. In the current study, Yfiler Plus PCR Amplification Kit loci were examined in 260 unrelated Hazara individuals from Afghanistan, 153 Hazara individuals, and 111 Balochi individuals from Baluchistan Pakistan. For the Hazara population from Afghanistan and Pakistan overall, 380 different haplotypes were observed on these 27 Y-STR loci, gene diversities ranged from 0.51288 (DYS389I) to 0.9257 (DYF387S1), and haplotype diversity was 0.9992. For the Baloch population, every individual was unique at 27 Y-STR loci; gene diversity ranged from 0.5718 (DYS460) to 0.9371(DYF387S1). Twelve haplotypes were shared between 178 individuals, while only two haplotypes among these twelve were shared between 87 individuals in Hazara populations. Rst and Fst pairwise genetic distance analyses, multidimensional scaling plot, neighbor-joining tree, linear discriminatory analysis, and median-joining network were performed, which shed light on the history of Hazara and Baloch populations. The results of our study showed that the Yfiler Plus PCR Amplification Kit marker set provided substantially stronger discriminatory power in the Baloch population of Pakistan and the Hazara population across the Durand line.

Backgrounds\udIn 2022, smartphone use continues to expand with the number of smartphone subscriptions surpassing 6 billion and forecasted to grow to 7.5 billion by 2026. The necessity of these ‘high touch’ devices as essential tools in professional healthcare settings carries great risks of cross-contamination between mobile phones and hands. Current research emphasises mobile phones as fomites enhancing the risk of nosocomial disease dissemination as phone sanitisation is often overlooked. To assess and report via a large-scale E-survey the handling practices and the use of phones by healthcare workers.\ud \ud Methods\ud A total of 377 healthcare workers (HCWs) participated in this study to fill in an E-survey online consisting of 14 questions (including categorical, ordinal, and numerical data). Analysis of categorical data used non-parametric techniques such as Pearson's chi-squared test.\ud \ud Results\ud During an 8-h shift, 92.8% (n/N = 350/377) use their phone at work with 84.6% (n/N = 319/377) considering mobile phones as an essential tool for their job. Almost all HCWs who participated in this survey believe their mobile phones could potentially harbour microorganisms (97.1%; n/N = 366/377). Fifty-seven respondents (15.1%) indicated that they use their phones while wearing gloves and 10.3% (n/N = 39/377) have never cleaned their phones. The majority of respondents (89.3%; n/N = 337/377) agreed that contaminated mobile phones could contribute to dissemination of SARS-CoV-2.\ud \ud Conclusion\ud Mobile phone use is now almost universal and indispensable in healthcare. Medical staff believe mobile phones can act as fomites with a potential risk for dissemination of microbes including SARS-COV-2. There is an urgent call for the incorporation of mobile phone sanitisation in infection prevention protocol. Studies on the use of ultraviolet-C based phone sanitation devices in health care settings are needed.

Introduction. Advancements in technology and communication have revolutionised the 21st century with the introduction of mobile phones and smartphones. These phones are known to be platforms harbouring microbes with recent research shedding light on the abundance and broad spectrum of organisms they harbour. Mobile phone use in the community and in professional sectors including health care settings is a potential source of microbial dissemination.Aim. To identify the diversity of microbial genetic signature present on mobile phones owned by hospital medical staff.Methods. Twenty-six mobile phones of health care staff were swabbed. DNA extraction for downstream next generation sequencing shotgun metagenomic microbial profiling was performed. Survey questionnaires were handed to the staff to collect information on mobile phone usage and users’ behaviours.Results. A total of 11259 organisms derived from 26 phones were found with 2096 genes coding for antibiotic resistance and virulent factors. These organisms corresponded to 5717 bacteria, 675 fungi, 93 protists, 320 viruses, 4456 bacteriophages. The survey of medical staff showed that 46% (12/26) of the participants used their mobile phones in the bathroom.Discussion/conclusion. Mobile phones are vectors of microbes and can contribute to microbial dissemination and nosocomial diseases worldwide. As fomites, mobile phones that are not decontaminated may pose serious risks for public health and biosecurity.

Y-chromosomal Short Tandem Repeats have been widely used in forensic investigations, identification of males for criminal justice purpose and population genetics. Commercially available Y-STRs kits allow the identification of male pedigrees and has a limited application in forensic genetics because of its limitation in differentiating closely related male individuals. Recent research with the Rapidly Mutating Y-STRs (RM Y-STRs) have revealed that these loci deliver significantly higher discrimination capacity and haplotype diversity in worldwide populations when compared with the conventional Y-STRs. Although a number of RM Y-STRs have found their way in most updated commercial kits, there are still some loci that are not yet used in such kits. The aim of this study is to develop RM Y-STR haplotypes frequency database for the Pakistani population, in order to appraise the resolution power of these loci. A total of 212 unrelated males from the Pakistani population were typed with 13 RM Y-STRs which comprise DYF399S1, DYF387S1, DYS570, DYS576, DYS518, DYS526a + b, DYS626, DYS627, DYF403S1a + b, DYF404S1, DYS449, DYS547 and DYS612. 211 unique haplotypes were identified, out of which 1 haplotype was shared between two individuals, accounting for 0.9952 discrimination capacity (DC). Haplotype diversity was found to be 0.999925. Gene diversity (GD) values of all the loci were higher than 0.5, where the highest GD values were observed at DYF399S1, DYF403S1a and DYF404S1; with values of 0.99419, 0.98252 and 0.93061 respectively. Results of our study revealed that these 13 RM Y-STRs produced significantly stronger discriminatory power in Pakistani populations.

Autosomal short tandem repeats (STRs) have been widely used in forensic investigations. Prior to the application of any DNA based identification method, it is essential to estimate the allele frequencies and forensic statistical parameters of targeted STR loci in each population in order to provide a more precise reference database for forensic investigation. The GlobalFiler™ Kit is a multiplex assay that combines the 13 original CODIS loci with 7 non-overlapping loci from the expanded European Standard Set (ESS), as well as the highly discriminating SE33 locus, two Y-based loci and the sex determining maker, Amelogenin. The full complement of loci in the GlobalFiler™ Kit are: D13S317, D7S820, D5S818, CSF1PO, D1S1656, D12S391, D2S441, D10S1248, D18S51, FGA, D21S11, D8S1179, vWA, D16S539, TH01, D3S1358, AMEL, D2S1338, D19S433, DYS391, TPOX, D22S1045, SE33 and a Y-specific insertion/deletion locus (Yindel). The 6-dye GlobalFiler™ PCR Amplification kit (ThermoFisher Scientific) comprises 21 autosomal STRs have already been proven to be able to provide reliable DNA profiling results and enhance the power of discrimination between individuals. In this study, we are presenting an analysis of GlobalFiler STR loci on 209 unrelated individuals from Serbia.

Since the beginning of our work in 2003 our laboratory has focused exclusively on STR DNA from bone, a powerful tool in missing person cases. In cases such as mass disasters or missing persons, human remains are challenging to identify as they may be fragmented, burnt, recovered from water, degraded, and/or contain inhibitory substances. To address these challenges, this study has evaluated the performance of relatively new STR kits Investigator® 24plex QS kit (Qiagen) and GlobalFiler™ PCR Amplification kit (Thermo Fisher Scientific) by comparing it with current uses of the AmpFLSTR® Identifiler® Plus kit (Applied Biosystems) to obtain genetic information from skeletal remains. We analyzed 20 bone samples of skeletal remains from routine casework submitted for body identifications by law enforcement corresponding using Investigator® 24plex QS kit and GlobalFiler™ PCR Amplification kit, previously analysed AmpFLSTR® Identifiler® Plus kit (Thermo Fisher Scientific). The data indicates that the STR profiles obtained using the GlobalFiler™ and Investigator® 24plex QS kit for analysis of skeletal remains has shown results in an increased number of reportable genetic loci, and provide greater power of discrimination in comparison to the Identifiler® Plus Kit. Advanced extraction and purification techniques, together with more sensitive and robust new amplification kits allowed us to overcome the challenges associated with processing compromised skeletal remains and ultimately obtain full STR DNA profiles in 99% of the bones.

Mitochondrial DNA analysis has earned its place in the field of genetics for providing a new window into understanding population ancestry. Its ability to produce results from minimal or decayed samples where nucleus DNA profiling proves are difficult is an additional benefit to forensic genetics. A total of 150 whole blood samples were collected on FTA paper, from Arabs population in United Arab Emirates, including inhabitants from rural regions. Both extraction of whole blood samples using PrepFiler® as well as direct amplification of mtDNA control region from purified 1.2 mm disc of FTA card stained with blood were attempted in this study. Quantity of the amplified control region was estimated using gel electrophoresis. Three sets of primers were used afterward to sequence purified products of amplified control region of mtDNA using Sanger sequencing method. 150 mtGenome sequences were obtained for UAE Arabs population, generated using MPS technology – Ion™ 5S. Concordance with control region sequences obtained using Sanger Sequencing approach was investigated. Resulted haplotypes were compared against worldwide mtDNA database (EMPOP) and estimated haplotypes frequency is shown in this study. As a forensic lab, non-probative challenging bone samples were tested to highlight the potentials value of using MPS technology – Ion™ 5S. This study shows the first mtGenome data generated for UAE Arabs population which helps extending the current available mtDNA control region database. As a result, this study shows great value of implementing MPS in the routine work in forensic genetics at Dubai Police.

Hazara population across Durand-line has experienced extensive interaction with Central Asian and East Asian populations. Hazara individuals have typical Mongolian facial appearances and they called themselves descendants of Genghis Khan’s army. The people who speak the Balochi language are called Baloch. Previously, a worldwide analysis of Y-chromosomal haplotype diversity for rapidly mutating (RM) Y-STRs and with PowerPlex Y23 System (Promega Corporation Madison, USA) kit was created with collaborative efforts, but Baloch and Hazara population from Pakistan and Hazara population from Afghanistan were missing. A limited data with limited number of markers and samples is available which poorly define these populations. So, in the current study, Yfiler Plus PCR Amplification Kit loci were examined in 260 unrelated Hazara individuals from Afghanistan, 153 Hazara individuals, and 111 Balochi individuals from Baluchistan Pakistan. For the Hazara population from Afghanistan and Pakistan overall, 380 different haplotypes were observed on these 27 Y-STR loci, gene diversities ranged from 0.51288 (DYS389I) to 0.9257 (DYF387S1) and haplotype diversity was 0.9992 +/- 0.0004. For the Baloch population, every individual was unique at 27 Y-STR loci, gene diversity ranged from 0.5718 (DYS460) to 0.9371(DYF387S1). Twelve haplotypes shared between 178 individuals while only two haplotypes among these twelve were shared between 87 individuals in Hazara populations. Rst and Fst pairwise genetic distance analyses, multidimensional scaling (MDS) plot, Neighbor-joining (NJ) tree, linear discriminatory analysis (LDA), and median-joining network (MJNs) were performed, which shed light on the history of Hazara and Baloch populations. Interestingly null alleles were observed at DYS448 with specific mutation patterns in Hazara populations. The results of our study showed that the Yfiler Plus PCR Amplification Kit marker set provided substantially stronger discriminatory power in the Baloch population of Pakistan and the Hazara population across the Durand-line.

Severe Acute Respiratory Syndrome – Coronavirus 2 (SARS-CoV-2) emerged in Wuhan, China and spread to more than 114 countries resulting in a pandemic, which was declared by the WHO in March 2020. Tracking the spread of the virus raised a main concern in every country. Many researches proved the presence of SARS-CoV-2 in stool samples of patients, where the genes of this virus gave a positive signal several days prior to the occurrence of symptoms. The fact of viral shedding in stools provides an advantage in utilizing wastewater systems as a tool to monitor the viral prevalence. We tested more than 2900 municipal wastewater samples coming from 49 distinctive area in Dubai, where 28.6% showed positive results. We also looked into the wastewater samples from 198 commercial aircrafts arriving at Dubai Airport, giving a positive result percentage of 13.6%. The presence of SARS-CoV-2 genes was confirmed using TaqPath™ Covid-19 RT-PCR kit, which targets ORF1ab, N gene and S gene. This project shows the significance of utilizing wastewater-based epidemiology (WBE) in monitoring the prevalence of various infectious diseases such as SARS-CoV-2, which can assist the decision makers to determine the level of precautionary measures according to the areas of the outbreak. With this in mind, pricewise, WBE is considered cost-effective when comparing to clinical nasal swabs., Graphical abstract Unlabelled Image, Highlights • First project to detect SARS-CoV-2 genes in wastewater samples in the United Arab Emirates. • Tested the largest number of municipal wastewater samples (2940) and commercial aircraft wastewater samples (198). • Direct correlation was found between the viral load and real COVID-19 cases recorded in the city of Dubai. • WBE provides an important tool in monitoring the spread of many diseases, including SARS-CoV-2 cases.

INTRODUCTION: Mobile phones are used the world over, including in healthcare settings. This study aimed to investigate the viable microbial colonisation of mobile phones used by healthcare personnel. METHODS: Swabs collected on the same day from 30 mobile phones belonging to healthcare workers from three separate paediatric wards of an Australian hospital were cultured on five types of agar plate, then colonies from each phone were pooled, extracted and sequenced by shotgun metagenomics. Questionnaires completed by staff whose phones were sampled assisted in the analysis and interpretation of results. RESULTS AND DISCUSSION: All phones sampled cultured viable bacteria. Overall, 399 bacterial operational taxonomic units were identified from 30 phones, with 1432 cumulative hits. Among these were 58 recognised human pathogenic and commensal bacteria (37 Gram-negative, 21 Gram-positive). The total number of virulence factor genes detected was 347, with 1,258 cumulative hits. Antibiotic resistance genes (ARGs) were detected on all sampled phones and overall, 133 ARGs were detected with 520 cumulative hits. The most important classes of ARGs detected encoded resistance to beta-lactam, aminoglycoside and macrolide antibiotics and efflux pump mediated resistance mechanisms. CONCLUSION: Mobile phones carry viable bacterial pathogens and may act as fomites by contaminating the hands of their users and indirectly providing a transmission pathway for hospital-acquired infections and dissemination of antibiotic resistance. Further research is needed, but meanwhile adding touching mobile phones to the five moments of hand hygiene is a simple infection control strategy worth considering in hospital and community settings. Additionally, the implementation of practical and effective guidelines to decontaminate mobile phone devices would likely be beneficial to the hospital population and community at large.

Mobile phones have become an integral part of modern society. As possible breeding grounds for microbial organisms, these constitute a potential global public health risk for microbial transmission.Scoping review of literature examining microbial's presence on mobile phones in both health care (HC) and community settings.A search (PubMedGoogleScholar) was conducted from January 2005-December 2019 to identify English language studies. Studies were included if samples from mobile phones were tested for bacteria, fungi, and/or viruses; and if the sampling was carried out in any HC setting, and/or within the general community. Any other studies exploring mobile phones that did not identify specific microorganisms were excluded.A total of 56 studies were included (from 24 countries). Most studies identified the presence of bacteria (54/56), while 16 studies reported the presence of fungi. One study focused solely on RNA viruses. Staphylococcus aureus, and Coagulase-Negative Staphylococci were the most numerous identified organisms present on mobile phones. These two species and Escherichia coli were present in over a third of studies both in HC and community samples. Methicillin-resistant S. aureus, Acinetobacter sp., and Bacillus sp. were present in over a third of the studies in HC settings.While this scoping review of literature regarding microbial identification on mobile phones in HC and community settings did not directly address the issue of SARS-CoV-2 responsible for COVID-19, this work exposes the possible role of mobile phones as a 'Trojan horse' contributing to the transmission of microbial infections in epidemics and pandemics.

The application of the Y chromosome short tandem repeats (Y-STR) in forensic field and lineage studies has been dramatically growing in the last few decades. In forensic cases, when male–female mixtures cannot be resolved using autosomal STR multiplexes kits, the application of Y-STR profiling will add a beneficial value by producing the male Y-STR haplotype. In forensic application, Y-STR is mostly used in sexual assault cases, paternity testing, familial searching, and male disaster victim identification (DVI). Assigning a weight to a haplotype match between evidence and reference samples is essential to make it admissible in court to help achieving justice. Because of the nature of the inheritance pattern of Y chromosome through male lineages, all loci located on Y chromosome are considered as one locus. Consequently, to assign the weight, a relevant Y-STR haplotype database should be employed to estimate the rarity of a Y-STR haplotype. This chapter explains the concept and history of Y-STR typing and its application for forensic investigation purposes. It explains all commercially available Y-STR multiplex kits such as PowerPlex® Y23 and Yfiler® Plus. Also, an illustration of in-house-developed multiplex kits for rapidly mutating Y-STRs is also presented. The discrimination capacity between male individuals, both relatives and non-relatives, and also haplotype diversity of these kits are illustrated briefly in this chapter. The interpretation guidelines of different types of loci, single-allelic and multi-allelic, are explained as per the international standard guidelines recommended by SWGDAM and ISFG. In addition, the two main Y-STR databases, YHRD and US Y-STR, are discussed along with other databases which are used for genealogy studies. Moreover, the utilization of these databases to estimate the rarity of Y-STR haplotypes and its involved statistical uncertainties following different approaches has been discussed.

To assess our laboratory’s success with skeletal remains and provide a benchmark for the forensic community involved in identification of these remains, we retrospectively examined our ability to develop DNA profiles from the remains analyzed in our laboratory in the last 7 years. Between January 2009 and December 2016, 70 DNA extractions were completed on skeletal remains from routine casework. 92% of skeletal remains analyzed were samples submitted for body identifications by law enforcement and only 8% were samples submitted to answer family identity or historical questions. Overall, the ability to obtain a full or partial profile primarily reflects the difference in the average age and the condition of the samples in these two categories and thus, difference in the quantity and quality of the DNA. We describe here the approximate age and type of remains we have received, whether a full, partial, or no profile was obtained, as well as the condition of the samples.

Rapidly mutating Y-chromosomal short tandem repeats (RM Y-STRs) were identified to improve differentiation of unrelated males and also to enable separating closely and distantly related males in human identity testing in forensic and other applications. RM-Yplex assay was developed as a single multiplex that is capable of simultaneously amplifying all currently known RM Y-STRs, and reproducibility and sensitivity testing were performed on reference samples. Additional analyses are necessary to test its suitability for analysing compromised forensic samples. For this purpose, we applied the RM-Yplex assay to approximately 70-year-old skeletons that were used as a model for poorly preserved, challenging forensic samples. We analysed 57 male skeletal remains (bones and teeth) from 55 skeletons excavated from the Second World War (WWII) mass graves in Slovenia. The RM-Yplex typing was successful in all 57 samples; there were 56% full profiles obtained, and in partial profiles, up to 7 locus drop-outs were observed and they appeared correlated with low DNA quantities and degradation of DNA obtained from WWII bone and tooth samples. The longest loci, DYS403S1b, DYS547, DYS627 and DYS526b, were the most often dropped-out RM Y-STRs. In spite of high frequency of drop-out events, the RM-Yplex typing was successful in all WWII samples, showing the possibility of successful amplification of at least half of the RM Y-STRs even from the most compromised samples analysed.

Importance of rapidly mutating (RM) Y- STRs) is already established and is evident with the addition of seven RM Y-STR markers in new generation Yfiler Plus (YFP) multiplex system. Performance of the 7 RM Y-STRs included in YFP is evaluated in central Indian population. We also report here a pilot study on genetic polymorphism using 13 Rapidly Mutating Y STRs (RM Y-STR) on Indian population. Forensic parameters including allele frequencies, gene diversities, discrimination capacity and Haplotype diversity will be calculated for both the amplification assays. Forensic application and kinship analysis will be highlighted in thisstudy.

In the present study, forensic parameters were estimated for three populations residing in the United Arab Emirates (UAE) including UAE Arabs, Pakistanis and Indians based on the population data of 23 autosomal short tandem repeats (STRs). The UAE Arabs is a vital population to study due to high rates of consanguineous marriages. Therefore, it is essential to estimate the allele distribution and frequencies within this population. In addition, it is crucial to study the largest communities living in the UAE such as Indians and Pakistanis. A total of 1272 blood samples were collected on FTA® cards, comprising of 571 UAE Arabs, 352 Indians and 349 Pakistanis. All of these samples were amplified directly using Verifiler® Express PCR Amplification Kit that focuses on 23 autosomal STR loci, namely D3S1358, vWA, D16S539, CSF1PO, TPOX, D8S1179, D21S11, D18S51, D2S441, D19S433, TH01, FGA, D22S1045, D5S818, D13S317, D7S820, D10S1248, D1S1656, D12S391, D2S1338, D6S1043, Penta D and Penta E loci. The PCR products were electrophoresed on ABI 3500 Genetic Analyzer and analyzed using GeneMapper ID-X v1.4 software. Arlequin v3.5 and PowerStats software were utilized to determine the forensic parameters and population structure using AMOVA. Gene diversity, ranged from 0.67406 (TPOX) to 0.9226 (Penta E) in the UAE Arabs, 0.69955 (TPOX) to 0.9214 (Penta E) in Indian and 0.69853 (TPOX) to 0.921 (Penta E) in Pakistani population. The most discriminating autosomal STR loci observed was Penta E (PD = 0.985), (PD = 0.986), (PD = 0.986) in the UAE Arabs, Indian and Pakistani population, respectively. The obtained results showed the 23 STR loci had a relatively high genetic variation, confirming the suitability for forensic identification and kinship analysis, in the relevant populations. The significance of this study is to build an allelic frequency database for one of the most powerful commercially available STR amplification kits by using the current forensic workflow.

© 2019 Elsevier B.V. This manuscript version is made available under the CC-BY-NC-ND 4.0 license: http://creativecommons.org/licenses/by-nc-nd/4.0/ This author accepted manuscript is made available following 12 month embargo from date of publication (January 2019) in accordance with the publisher’s archiving policy, In forensic DNA analysis there is valid interest in the reliability of the interpretation reported. Reliability, in part but not fully, relates to the scientific concepts of repeatability, reproducibility, and accuracy. Before attempting to address repeatability and reproducibility, and the challenge in context of determining accuracy in context, we give a brief summary of the current process that leads to the reported result.

Recently, the interest of the forensic community has been focused on new Y-chromosomal short tandem repeats (Y-STRs), termed Rapidly Mutating Y-STRs (RM-YSTRs), which is able to differentiate between close males belonging to the same paternal lineage due to their high mutation rates. In this study, we have estimated a mutation rate for 13 RM-YSTR in 85 pairs of male relatives in the population of Serbia. We analysed 74 father-son pairs, and 11 twin pairs, to evaluate the capacity of distinguishing between male subjects within a single lineage. Each father-son couple was previously confirmed by autosomal STRs testing (AmpFlSTR® Identifiler Plus™ kit, Applied Biosystems) with paternity probability ≥99.99% and also confirmed monozygotic or dizygotic twins. Results showed that, in the 74 father-son pairs 23 mutations were detected of which 22 were one-step mutations and 1 was two-step mutation, while in the 11 twin pairs 1 mutation was observed in one dizygotic twin pair. Five father-son pairs were found to have mutations at two loci, while one pair at four loci. Overall, the most mutable markers were DYF399S1, DYF387S1, DYF403S1a and DYS612. Our findings are encouraging and concur with previous studies showing that by RM-YSTR typing the discrimination power of male relatives could be considerably increased in comparison to every YSTR markers commonly used in forensic genetics.

The recently introduced 6-dyes Yfiler® Plus multiplex kit which includes 27 Y-STR loci has been used to study 436 UAE Arab male individuals. In addition to the 17 Y-STRs traditionally used in Yfiler® multiplex kit, Yfiler® Plus has ten additional Y-STRs. It includes seven rapidly mutating Y-STRs (RM Y-STRs) namely DYS560, DYS576, DYS627, DYS518, DYS449 and DYF387S1ab, and three moderately mutating Y-STRs namely DYS481, DYS533 and DYS460. The RM Y-STRs were already proven to be powerful for discriminating closely related and unrelated males’ individuals. As a result, a total number of 419 haplotypes were observed out of 436 samples analysed of UAE Arab males’ population, whereas 15 haplotypes were shared between two individuals and one haplotypes were shared between three individuals. The discrimination capacity (DC) for the 27 loci was found to be 0.9618 whereas haplotype diversity (HD) was found to be 0.99982. AMOVA results showed that UAE population clustered along with Saudi Arabia East [Arab] population which indicates that they have a closer genetic relation. While it was standing away compared to other relevant populations. In conclusion, Yfiler® Plus multiplex kit showed higher power of discrimination than all previous studies conducted on the same population. This study considered the first study conducted using 27 Y-STR loci in this population. Geographic distribution of the populations analysed in this study are well reflected in the genetic distance results.

A multiplex PCR assay consisting of 13 Rapidly Mutating Y STR loci called RM-Yplex was previously developed. Platinum® Taq DNA polymerase was used to amplify the 13 Y STR loci in a single reaction at an amplification time of approximately 2.5 h. In order to shorten the process with reliable results, two DNA polymerases were tested with the multiplex. Phusion® Flash High Fidelity, TAKARA Z-taqTM , and Platinum® Taq DNA polymerases were investigated for conducting RM-Yplex assay at various PCR cycling conditions. Rapid, robust, and efficient amplification of all the markers within the multiplex were achieved. The amplification time was reduced from 2.5 h to less than 28 min with Phusion® Flash High Fidelity DNA polymerase using Veriti® PCR thermal cycler.

Ancestry informative markers (AIMs) are considered a useful tool for forensic investigation as it might give a clue about an unknown stain donor with an absence of DNA profile match or suspects. Recently, a multiplex assay (21plex) has been developed to amplify 21 ancestry informative insertion/deletion markers (InDels) simultaneously. In the current study we present a validation study of the 21plex assay and analysis of these markers in 95 samples from United Arab Emirates (UAE) Arab population. A comparison analysis with previously published data for the HGDP-CEPH sample set is presented. Results demonstrate the usefulness of using these markers in estimating ancestry proportions in this population as well as show the accuracy of classification compared to the global data set. Forensic parameters were determined for the UAE population using Arlequin v3.5 software.

Differentiating male lineages using non-recombining Y-chromosomal genetic markers is highly informative for tracing human migration and for forensic studies. Recently, it has been shown that the level of male lineage resolution can be enhanced by analysing rapidly mutating (RM) Y-STRs. The aim of this study was to develop an allelic frequency database for Qatari population to evaluate the resolution power of 13 RM Y-STRs. The overall haplotype diversity (HD) was 100%. It was found that the markers which contributed the most toward high HD were DYF399S1 and DYF403S1a/b. Together with their value for paternal male relative differentiation, these RM Y-STRs will be a valuable asset for forensic casework. AMOVA test was performed between Qatari population in comparison to Gulf countries, Middle East, and several worldwide population data sets. FST values were also calculated. Geography was found to account considerably for the pattern of population sub structuring. The RM Y-STR markers showed remarkable haplotype resolution power in the Qatari population, high gene diversity and sufficient robustness for a diverse range of applications.

Rapidly Mutating Y-STRs (RM Y-STR) were proven to have significantly higher resolution in worldwide populations when compared to commonly used Y-STR kits. In order to contribute to the research that has been conducted so far, RM Y-STRs were investigated in parallel with Yfiler® kit in 327 male individuals from United Arab Emirates population. Such population is considerably isolated where Yfiler® and Powerplex® Y haplotypes were found to be shared between distantly related as well as non-related male individuals. In the present study, a comparison between Y-STR markers included in Yfiler® kit (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385, DYS393, DYS391, DYS439, DYS635, DYS392, YGATAH4, DYS437, DYS438, DYS448) with RM Y-STRs (DYF387S1, DYF399S1, DYF403S1a/b, DYF404S1, DYS449, DYS518, DYS526a/b, DYS547, DYS570, DYS576, DYS612, DYS626, and DYS627) is conducted. RM Y-STRs were analysed using previously published methods. Forensic parameters were calculated for each set of markers, including discrimination capacity, haplotype diversity and gene diversity, using Arlequin v3.5 software.

The analysis of mini short tandem repeats (miniSTRs) is useful in various contexts of forensic DNA analysis. Main application is the identification of DNA profiles from degraded DNA samples. In the present study, previously identified autosomal miniSTR markers were incorporated in single multiplex assay in order to evaluate the use of such markers in forensic casework samples. Six autosomal miniSTR markers comprise of D12ATA63, D17S974, D9S2157, D2S1776, D10S1435 and D3S4529 were chosen based on previous performance study in addition to the FGA and amelogenine markers.. Sensitivity of the assay was tested down to 31.25 pg of DNA. Allele's frequencies were established using 301 samples randomly collected from United Arab Emirates Arab population. Forensic parameters were calculated using Arlequin v3.5 software.

Multi-allelic Y chromosome short tandem repeats (Y-STRs) have been avoided in forensic applications due to high level of complexity involved in the interpretation of these markers. Because of such reason Y-STR multi-allelic markers have less representation in literature compared to Y-STR single-allelic markers. However these markers were proven to be highly polymorphic previously such as DYS464. In the recent discovery of the 13 rapidly mutating Y-STRs there were four multi-allelic markers including DYF387S1, DYF399S1, DYF403S1 and DYF404S1. In all subsequent studies these markers were always showing the highest diversity across the 13 RM Y-STRs. In this study these markers were investigated individually in 361 male individuals from United Arab Emirates. Each marker was analyzed using previously published primers sets. The potential forensic application value of these markers was evaluated using both conservative (C-type) and expanded (E-type) approaches.

Recent research with Rapidly Mutating Y-STRs (RM Y-STRs) have shown that these loci provide substantially higher haplotype diversity and haplotype discrimination capacity in worldwide populations when compared with the Y-STRs commonly used in genetic forensics. The aim of this study was to develop an allelic frequency database for the population of Serbia in order to evaluate the resolution power of 13 RM Y-STRs. A total of 279 unrelated males from the population of Serbia were typed with 13 RM Y-STRs loci: DYF387S1, DYF399S1, DYF403S1a/b, DYF404S1, DYS449, DYS518, DYS526a/b, DYS547, DYS570, DYS576, DYS612, DYS626 and DYS627. A high Y-STR haplotype diversity was found (0.999768) in our samples. As expected, the RM Y-STR loci showed high genetics diversity (GD) values (>0.73) in the Serbian population. The highest GD was observed for the locus DYF399S1 (0.991), followed by loci DYF403S1a (0.976), DYF387S1 (0.907) and DYF404S1 (0.899). Based on the results of this study, the RM Y-STR loci showed remarkable haplotype resolution power in the population of Serbia, high genetics diversity and, therefore, demonstrating their usefulness in forensic identification cases.

Y chromosome short tandem repeats (Y-STR) has been widely used in forensic DNA profiling and lineages analysis. The aim of this study is to establish a database of an extensive Y-STR profiles of the United Arab Emirates (UAE) population and to investigate the distribution of 17 Y-STR loci. Samples of 345 Emirati males using 17 Y-STR loci included in the AmpFLSTR® Y-filer® PCR Amplification kit (Life Technologies) (DYS456, DYS3891, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, GATA-H4, DYS437, DYS438 and DYS448). Statistical analysis of allele frequency, haplotype diversity and discrimination capacity were performed for the samples using Arlequin software version 3.5 A total of 301 unique haplotypes were identified, 271 haplotypes were found to be unique and 22 haplotypes were shared between two individuals. In addition, there were four different haplotypes shared between more than two individuals. The haplotype diversity (HD) was found to be equal to 0.99885. The highest gene diversity was estimated to be 0.94142 for DYS385a/b whereas the lowest was estimated to be 0.4369 for DYS392. The discrimination capacity (DC) was calculated to be 90.03%

FTA ® cards were developed for analysing reference samples such as blood or saliva and helping to store the sample for long term purposes as it kills the microorganisms that comes along with biological stains which can be potential inhibitors. The aim of this research is to optimize a reduced volume PCR amplification for STR analysis of reference blood samples. This approach will help to reduce the costs of DNA profiling using direct amplification multiplex assays. A total number of 130 blood samples from different individuals were collected on FTA ® cards. The reaction was optimized using half volume for amplification with Identifiler ® Direct and Globalfiler™ Express multiplex assays. The protocol was applied in a forensic laboratory and was able to reduce costs and account for variability of DNA amounts among reference samples.

A multiplex polymerase chain reaction (PCR) assay (RM-Yplex) was developed which is capable of simultaneously amplifying 13 recently introduced rapidly mutating Y-STR markers (RM Y-STRs). This multiplex assay is expected to aid human identity testing in forensic and other applications to improve differentiating unrelated males and allow separating related males. The 13 RM Y-STR markers included in the multiplex are: DYF387S1, DYF399S1, DYF403S1ab, DYF404S1, DYS449, DYS518, DYS526ab, DYS547, DYS570, DYS576, DYS612, DYS626 and DYS627. This study reflects the proof of concept to analyse all currently known RM Y-STRs simultaneously and describes the optimization of the multiplex assay. The RM-Yplex assay generated complete RM Y-STR profiles down to 62.5 pg of male template DNA, and from male-female DNA mixtures at all ratios tested. We herewith introduce and make available for widespread use in forensic and anthropological studies, an effective and sensitive single multiplex assay for simultaneous genotyping of 13 RM Y-STRs. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

The high power of discrimination for SE33 locus makes it one of the most informative loci for forensic applications. Considering that locus finding its way to most of the new commercially available autosomal STR multiplexes assays, it is important to evaluate forensic parameters in UAE population before implementing kits including such locus. Here we present a genetic population study for SE33 locus in the United Arab Emirates (UAE) Arab population. 588 randomly collected samples were amplified using optimized in-house singleplex reaction. Forensic parameters including matching probability, power of discrimination, paternity power of exclusion and typical paternity index were calculated using Arlequin v3.5 software. Results demonstrate SE33 competence in UAE population as same as in other populations. In comparison with previously published data of 15 autosomal STR loci for UAE population [1], SE33 locus was found to have the highest power of discrimination and therefore it demonstrates the potential usefulness for forensic applications in caseworks as well as in complex paternity cases.

Development of a new multiplex comprising of 13 Rapidly Mutating Y STRs (RM Y-STR) is presented. The multiplex will aid investigating the human genetic structure of United Arab Emirates (UAE) populations and would also be used to investigate unresolved forensic cases in Dubai Forensic Laboratory. Thirteen markers have been included in the multiplex. A mini validation of the new multiplex has been carried out including specificity, sensitivity and mixture studies. These markers have been analysed in 600 male samples from UAE population. Allelic frequencies, haplotype diversity and discrimination capacity were determined for the 13 RM Y-STRs. Mutations pattern analysis of the RM Y-STR loci in a typical UAE family has also been carried out.