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https://www.readbyqxmd.com/read/29775859/facilitating-complex-dna-mixture-interpretation-by-sequencing-highly-polymorphic-haplotypes
#1
Lev Voskoboinik, Uzi Motro, Ariel Darvasi
Interpretation of complex DNA mixtures is an ongoing challenge in the field of forensic genetics. Commonly used STR markers are quite polymorphic, enabling very high statistical association between a single source DNA profile from a crime scene and a matching suspect. STR typing of low order mixtures with two and three contributors also commonly produces high statistical association for a contributor, using current interpretation software. However higher order mixtures, with four contributors or more, are more challenging...
May 2, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29772597/development-of-a-massively-parallel-sequencing-assay-for-investigating-sequence-polymorphisms-of-15-strs-in-a-chinese-northern-han-population
#2
Qing-Xia Zhang, Meng Yang, Ya-Jiao Pan, Jing Zhao, Bao-Wang Qu, Feng Cheng, Ya-Ran Yang, Zhang-Ping Jiao, Li Liu, Jiang-Wei Yan
Massively parallel sequencing (MPS) has been used in forensic genetics in recent years owing to several advantages, such as MPS can provide precise descriptions of the repeat allele structure and variation in the repeat-flanking regions, increasing the discriminating power among loci and individuals. However, it cannot be fully utilized unless sufficient population data is available for all loci. Thus, there is a pressing need to perform population studies providing a basis for the introduction of MPS into forensic practice...
May 17, 2018: Electrophoresis
https://www.readbyqxmd.com/read/29753263/the-hirisplex-s-system-for-eye-hair-and-skin-colour-prediction-from-dna-introduction-and-forensic-developmental-validation
#3
Lakshmi Chaitanya, Krystal Breslin, Sofia Zuñiga, Laura Wirken, Ewelina Pośpiech, Magdalena Kukla-Bartoszek, Titia Sijen, Peter de Knijff, Fan Liu, Wojciech Branicki, Manfred Kayser, Susan Walsh
Forensic DNA Phenotyping (FDP), i.e. the prediction of human externally visible traits from DNA, has become a fast growing subfield within forensic genetics due to the intelligence information it can provide from DNA traces. FDP outcomes can help focus police investigations in search of unknown perpetrators, who are generally unidentifiable with standard DNA profiling. Therefore, we previously developed and forensically validated the IrisPlex DNA test system for eye colour prediction and the HIrisPlex system for combined eye and hair colour prediction from DNA traces...
April 12, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29750373/current-state-of-art-of-str-sequencing-in-forensic-genetics
#4
REVIEW
Antonio Alonso, Pedro A Barrio, Petra Müller, Steffi Köcher, Burkhard Berger, Pablo Martin, Martin Bodner, Sascha Willuweit, Walther Parson, Lutz Roewer, Bruce Budowle
The current state of validation and implementation strategies of MPS technology for the analysis of STR markers for forensic genetics use is described, covering the topics of the current catalogue of commercial MPS-STR panels, leading MPS-platforms, and MPS-STR data analysis tools. In addition, the developmental and internal validation studies carried out to date to evaluate reliability, sensitivity, mixture analysis, concordance, and the ability to analyze challenged samples are summarized. The results of various MPS-STR population studies that showed a large number of new STR sequence variants that increase the power of discrimination in several forensically-relevant loci are also presented...
May 11, 2018: Electrophoresis
https://www.readbyqxmd.com/read/29739989/haplotypic-polymorphisms-and-mutation-rate-estimates-of-22-y-chromosome-strs-in-the-northern-chinese-han-father-son-pairs
#5
Yaran Yang, Weini Wang, Feng Cheng, Man Chen, Tong Chen, Jing Zhao, Chong Chen, Yan Shi, Chen Li, Chuguang Chen, Yacheng Liu, Jiangwei Yan
Y chromosome Short tandem repeats (Y-STRs) analysis has been widely used in forensic identification, kinship testing, and population evolution. An accurate understanding of haplotype and mutation rate will benefit these applications. In this work, we analyzed 1123 male samples from Northern Chinese Han population which including 578 DNA-confirmed father-son pairs at 22 Y-STRs loci. A total of 537 haplotypes were observed and the overall haplotype diversity was calculated as 1.0000 ± 0.0001. Except that only two haplotypes were observed twice, all the rest of the 535 were unique...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29677481/mutation-analysis-of-short-tandem-repeats-in-a-population-sample-from-upper-silesia-southern-poland
#6
Kornelia Droździok, Jadwiga Kabiesz, Marcin Tomsia, Rafał Skowronek, Krzysztof Rębała
In paternity testing, DNA polymorphism analysis not only settles explicitly disputed paternity issue but also provides information on mutation frequencies in STR loci. In this study, insertion or deletion of one repetitive unit was observed in 38 of 32,391 meiotic transfers analysed in 953 paternity testing cases. Parentage samples from Upper Silesia (southern Poland) were examined in 2008-2014 with the use of three commercially available amplification kits: AmpFlSTR Identifiler (Applied Biosystems), PowerPlex 16 HS (Promega) and PowerPlex ESX 17 (Promega)...
April 1, 2018: Legal Medicine
https://www.readbyqxmd.com/read/29658064/allele-frequencies-and-forensic-genetic-parameters-of-10-supplementary-and-two-codis-loci-in-a-japanese-population-genotyped-using-an-investigator-hdplex-kit
#7
Shota Inokuchi, Hiroaki Nakanishi, Kazuma Nishimura, Kazuyuki Saito
A total of 344 unrelated Japanese adults were genotyped to determine allele frequencies and evaluate forensic parameters for 10 autosomal supplementary non-CODIS loci and 2 autosomal CODIS loci using an Investigator® HDplex Kit for complex relationship testing.
April 15, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29534619/genetic-characterisation-of-19-autosomal-str-loci-in-a-population-sample-from-the-southeastern-anatolia-region-of-turkey
#8
Nazli Bozman, Cemal Gurkan, Huseyin Sevay, Damla Kanliada Demirdov, Filiz Ozbas-Gerceker
BACKGROUND: Southeastern Anatolia is the smallest, yet the most densely populated region among the seven major geographic constituents of Turkey. Situated in the Upper Mesopotamia, Southeastern Anatolia was also the northernmost extension of the Fertile Crescent, which is often considered as the earliest cradle of civilisation. AIM: To investigate the autosomal STR polymorphisms associated with a truly representative population sample pool from Southeastern Anatolia...
March 2018: Annals of Human Biology
https://www.readbyqxmd.com/read/29518713/field-based-detection-of-biological-samples-for-forensic-analysis-established-techniques-novel-tools-and-future-innovations
#9
REVIEW
Jack Morrison, Giles Watts, Glyn Hobbs, Nick Dawnay
Field based forensic tests commonly provide information on the presence and identity of biological stains and can also support the identification of species. Such information can support downstream processing of forensic samples and generate rapid intelligence. These approaches have traditionally used chemical and immunological techniques to elicit the result but some are known to suffer from a lack of specificity and sensitivity. The last 10 years has seen the development of field-based genetic profiling systems, with specific focus on moving the mainstay of forensic genetic analysis, namely STR profiling, out of the laboratory and into the hands of the non-laboratory user...
April 2018: Forensic Science International
https://www.readbyqxmd.com/read/29504082/inhibition-mechanisms-of-hemoglobin-immunoglobulin-g-and-whole-blood-in-digital-and-real-time-pcr
#10
Maja Sidstedt, Johannes Hedman, Erica L Romsos, Leticia Waitara, Lars Wadsö, Carolyn R Steffen, Peter M Vallone, Peter Rådström
Blood samples are widely used for PCR-based DNA analysis in fields such as diagnosis of infectious diseases, cancer diagnostics, and forensic genetics. In this study, the mechanisms behind blood-induced PCR inhibition were evaluated by use of whole blood as well as known PCR-inhibitory molecules in both digital PCR and real-time PCR. Also, electrophoretic mobility shift assay was applied to investigate interactions between inhibitory proteins and DNA, and isothermal titration calorimetry was used to directly measure effects on DNA polymerase activity...
April 2018: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/29486434/-the-devil-s-in-the-detail-release-of-an-expanded-enhanced-and-dynamically-revised-forensic-str-sequence-guide
#11
C Phillips, K Butler Gettings, J L King, D Ballard, M Bodner, L Borsuk, W Parson
The STR sequence template file published in 2016 as part of the considerations from the DNA Commission of the International Society for Forensic Genetics on minimal STR sequence nomenclature requirements, has been comprehensively revised and audited using the latest GRCh38 genome assembly. The list of forensic STRs characterized was expanded by including supplementary autosomal, X- and Y-chromosome microsatellites in less common use for routine DNA profiling, but some likely to be adopted in future massively parallel sequencing (MPS) STR panels...
May 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29441769/-genetic-polymorphism-of-30-indel-loci-in-han-population-from-jiangsu-province
#12
M Pan, X B Ju, Y T Liu, H Cui, M Gu, H Y Zhou
OBJECTIVES: To investigate the genetic information of 30 insertion/deletion (InDel) loci in Han population from Jiangsu Province, and to explore the application values of Investigator® DIPplex kit for guiding the forensic analysis in Han population from Jiangsu Province. METHODS: The autosomal InDel loci of 305 unrelated healthy Han individuals from Jiangsu Province were genotyped and analysed by Investigator® DIPplex kit, and the allelic frequencies and forensic parameters of 30 InDel loci were statistically analysed...
December 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29428890/construction-and-forensic-genetic-characterization-of-11-autosomal-haplotypes-consisting-of-22-tri-allelic-indels
#13
Xiaohong Zhao, Xiaogang Chen, Yuancun Zhao, Shu Zhang, Zehua Gao, Yiwen Yang, Yufang Wang, Ji Zhang
Insertion/deletion polymorphisms (indels), which combine the advantages of both short tandem repeats and single-nucleotide polymorphisms, are suitable for parentage testing. To overcome the limitations of the low polymorphism of di-allelic indels, we constructed a set of haplotypes with physically linked, multi-allelic indels. Candidate haplotypes were selected from the 1000 Genomes Project database, and were subject to the following criteria for inclusion: (i) each marker must have a minimum allele frequency (MAF) of ≥0...
May 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29413635/forensic-genetic-informativeness-of-an-snp-panel-consisting-of-19-multi-allelic-snps
#14
Zehua Gao, Xiaogang Chen, Yuancun Zhao, Xiaohong Zhao, Shu Zhang, Yiwen Yang, Yufang Wang, Ji Zhang
Current research focusing on forensic personal identification, phenotype inference and ancestry information on single-nucleotide polymorphisms (SNPs) has been widely reported. In the present study, we focused on tetra-allelic SNPs in the Chinese Han population. A total of 48 tetra-allelic SNPs were screened out from the Chinese Han population of the 1000 Genomes Database, including Chinese Han in Beijing (CHB) and Chinese Han South (CHS). Considering the forensic genetic requirement for the polymorphisms, only 11 tetra-allelic SNPs with a heterozygosity >0...
May 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29408726/forensic-genetic-analysis-of-bone-remain-samples
#15
T Siriboonpiputtana, T Rinthachai, J Shotivaranon, V Peonim, B Rerkamnuaychoke
DNA typing from degraded human remains is still challenging forensic DNA scientists not only in the prospective of DNA purification but also in the interpretation of established DNA profiles and data manipulation, especially in mass fatalities. In this report, we presented DNA typing protocol to investigate many skeletal remains in different degrees of decomposing. In addition, we established the grading system aiming for prior determination of the association between levels of decomposing and overall STR amplification efficacy...
March 2018: Forensic Science International
https://www.readbyqxmd.com/read/29393215/age-estimation-with-dna-from-forensic-dna-fingerprinting-to-forensic-epi-genomics-a-mini-review
#16
Walther Parson
Forensic genetics developed from protein-based techniques a quarter of a century ago and became famous as "DNA fingerprinting," this being based on restriction fragment length polymorphisms (RFLPs) of high-molecular-weight DNA. The amplification of much smaller short tandem repeat (STR) sequences using the polymerase chain reaction soon replaced RFLP analysis and advanced to become the gold standard in genetic identification. Meanwhile, STR multiplexes have been developed and made commercially available which simultaneously amplify up to 30 STR loci from as little as 15 cells or fewer...
January 23, 2018: Gerontology
https://www.readbyqxmd.com/read/29278682/weight-of-the-evidence-of-genetic-investigations-of-ancestry-informative-markers
#17
Torben Tvedebrink, Poul Svante Eriksen, Helle Smidt Mogensen, Niels Morling
Ancestry-informative markers (AIMs) are markers that give information about the ancestry of individuals. They are used in forensic genetics for predicting the geographic origin of the investigated individual in crime and identification cases. In the exploration of the genogeographic origin of an AIMs profile, the likelihoods of the AIMs profile in various populations may be calculated. However, there may not be an appropriate reference population in the database. The fact that the likelihood ratio (LR) of one population compared to that of another population is large does not imply that any of the populations is relevant...
March 2018: Theoretical Population Biology
https://www.readbyqxmd.com/read/29275090/lessons-from-a-study-of-dna-contaminations-from-police-services-and-forensic-laboratories-in-switzerland
#18
Patrick Basset, Vincent Castella
In Switzerland, the DNA profiles of police officers collecting crime scene traces as well as forensic genetic laboratories employees are stored in the staff index of the national DNA database to detect potential contaminations. Our study aimed at making a national inventory of contaminations to better understand their origin and to make recommendations in order to decrease their occurrence. For this purpose, a retrospective questionnaire was sent to both police services and forensic genetic laboratories for each case where there was a contamination...
March 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29226639/early-diagnosis-of-oral-squamous-cell-carcinoma-by-salivary-micrornas
#19
REVIEW
Raluca Dumache
BACKGROUND: Oral squamous cell carcinoma (OSCC), the most common type of oral cancer, and represents more than 90% of malignancies of the oral cavity. Worldwide, each year about 275,000 are newly diagnosed. If detected at an early stage, OSCC has a survival rate of up to 80% compared to the detection in later stages (T3-T4) when a survival rate of 20 - 30% is present. METHODS: Because OSCC presents these survival rates, there is an urgent need to introduce new non-invasive molecular biomarkers for the early detection of OSCC from saliva, which will contribute to an increased long term survival rate for these patients...
November 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/29219271/-polymorphisms-of-19-str-loci-in-guizhou-han-population-and-their-forensic-application
#20
Q S Zhao, Z Ren, H L Zhang, J L Dai, J Wang, F Yu, J Huang
OBJECTIVES: To investigate the allelic distribution of 19 autosomal STR loci in Guizhou Han population, and to estimate the forensic application value. METHODS: The 19 autosomal STR loci in 520 unrelated healthy individuals from Guizhou Han population were studied using Golden e ye™ 20A kit. The 310 genetic analyzer was used for capillary electrophoresis, and the GeneMapper®ID v3.1 for genotyping. RESULTS: The heterozygosis, the discrimination power, the probability of exclusion, the polymorphism information content, the cumulative discrimination power and the cumulative probability of exclusion of the 19 STR loci were 0...
August 2017: Fa Yi Xue za Zhi
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