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https://www.readbyqxmd.com/read/28327596/genetic-polymorphisms-of-54-mitochondrial-dna-snp-loci-in-chinese-xibe-ethnic-minority-group
#1
Chun-Mei Shen, Li Hu, Chun-Hua Yang, Cai-Yong Yin, Zhi-Dan Li, Hao-Tian Meng, Yu-Xin Guo, Ting Mei, Feng Chen, Bo-Feng Zhu
We analyzed the genetic polymorphisms of 54 mitochondrial DNA (mtDNA) variants in Chinese Xibe ethnic minority group. A total of 137 unrelated healthy volunteers from Chinese Xibe group were the objects of our study. Among the selected loci, there were 51 variable positions including transitions and transversions, and single nucleotide transitions were common (83.93%) versus transversions. These variations defined 64 different mtDNA haplotypes exclusive of (CA)n and 9 bp deletion variation. The haplotype diversity and discrimination power in Xibe population were 0...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28324847/species-identification-in-forensic-samples-using-the-spindel-approach-a-ghep-isfg-inter-laboratory-collaborative-exercise
#2
Cíntia Alves, Rui Pereira, Lourdes Prieto, Mercedes Aler, Cesar R L Amaral, Cristina Arévalo, Gabriela Berardi, Florencia Di Rocco, Mariela Caputo, Cristian Hernandez Carmona, Laura Catelli, Heloísa Afonso Costa, Pavla Coufalova, Sandra Furfuro, Óscar García, Anibal Gaviria, Ana Goios, Juan José Builes Gómez, Alexis Hernández, Eva Del Carmen Betancor Hernández, Luís Miranda, David Parra, Susana Pedrosa, Maria João Anjos Porto, Maria de Lurdes Rebelo, Matteo Spirito, María Del Carmen Villalobos Torres, António Amorim, Filipe Pereira
DNA is a powerful tool available for forensic investigations requiring identification of species. However, it is necessary to develop and validate methods able to produce results in degraded and or low quality DNA samples with the high standards obligatory in forensic research. Here, we describe a voluntary collaborative exercise to test the recently developed Species Identification by Insertions/Deletions (SPInDel) method. The SPInDel kit allows the identification of species by the generation of numeric profiles combining the lengths of six mitochondrial ribosomal RNA (rRNA) gene regions amplified in a single reaction followed by capillary electrophoresis...
March 7, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28314239/likelihood-ratio-and-posterior-odds-in-forensic-genetics-two-sides-of-the-same-coin
#3
Amke Caliebe, Susan Walsh, Fan Liu, Manfred Kayser, Michael Krawczak
It has become widely accepted in forensics that, owing to a lack of sensible priors, the evidential value of matching DNA profiles in trace donor identification or kinship analysis is most sensibly communicated in the form of a likelihood ratio (LR). This restraint does not abate the fact that the posterior odds (PO) would be the preferred basis for returning a verdict. A completely different situation holds for Forensic DNA Phenotyping (FDP), which is aimed at predicting externally visible characteristics (EVCs) of a trace donor from DNA left behind at the crime scene...
March 6, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28279935/evaluation-of-the-illumina-forenseq%C3%A2-dna-signature-prep-kit-mps-forensic-application-for-the-miseq-fgx%C3%A2-benchtop-sequencer
#4
Catarina Xavier, Walther Parson
Massively Parallel (Next Generation) Sequencing (MPS) technologies have recently been proven useful and successful in typing various markers relevant in forensic genetics, such as STRs, SNPs and mitochondrial genomes. Early studies investigated self-developed DNA libraries, commercially supplied kits are currently being made available to allow a smoother and gradual implementation of such technologies in forensic laboratories. The ForenSeq™ DNA Signature Prep Kit (Illumina, CA) is the first commercially available STR kit that can be used on the MiSeq FGx™ (Illumina, CA) benchtop high-throughput sequencer...
March 1, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28273506/evaluation-of-the-precision-id-ancestry-panel-for-crime-case-work-a-snp-typing-assay-developed-for-typing-of-165-ancestral-informative-markers
#5
Vania Pereira, Helle S Mogensen, Claus Børsting, Niels Morling
The application of massive parallel sequencing (MPS) methodologies in forensic genetics is promising and it is gradually being implemented in forensic genetic case work. One of the major advantages of these technologies is that several traditional electrophoresis assays can be combined into one single MPS assay. This reduces both the amount of sample used and the time of the investigations. This study assessed the utility of the Precision ID Ancestry Panel (Thermo Fisher Scientific, Waltham, USA) in forensic genetics...
February 24, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28269241/label-free-detection-of-sex-determining-region-y-sry-via-capacitive-biosensor
#6
Shilpa Sivashankar, Christos Sapsanis, Sumeyra Agambayev, Ulrich Buttner, Khaled Nabil Salama
In this work, we present for the first time, the use of a simple fractal capacitive biosensor for the quantification and detection of sex-determining region Y (SRY) genes. This section of genetic code, which is found on the Y chromosome, finds importance for study as it causes fetuses to develop characteristics of male sex-like gonads when a mutation occurs. It is also an important genetic code in men, and disorders involving the SRY gene can cause infertility and sexual malfunction that lead to a variety of gene mutational disorders...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28252872/powerplex%C3%A2-fusion-6c-system-evaluation-study-for-analysis-of-casework-and-database-samples
#7
Selena Cisana, Nicoletta Cerri, Alessandro Bosetti, Andrea Verzeletti, Venusia Cortellini
AIM: To report on the successful analysis of amplicons obtained with PowerPlex® Fusion 6C System, a highly robust 27-plex genotyping kit developed for human identification laboratories, on the Applied Biosystems® 3500 Genetic Analyzer. METHOD: We performed characterization and evaluation studies following the Scientific Working Group on DNA Analysis Methods (SWGDAM) validation guidelines, examining several critical areas of kit performance. We report the results of sensitivity, robustness, heterozygous peak height ratio, precision, concordance, caseworks, and mixture interpretations...
February 28, 2017: Croatian Medical Journal
https://www.readbyqxmd.com/read/28252611/-on-the-problem-of-hiv-infection-in-the-objects-of-forensic-medical-expertise
#8
P L Ivanov, T V Timoshenko, E Yu Zemskova
The authors overview the current state of research in the field of diagnostics and identification of the signs suggesting the presence of HIV in the materials obtained from the human corpses undergoing forensic medical expertise at different stages of their post-mortem changes. Another objective of the present work was to evaluate the risk of HIV infection for the medical personnel involved in the autopsy studies taking into consideration the significance attached in different countries to the problem of anti-infectious protection of the staff of the state institutions of forensic medical expertise...
2017: Sudebno-meditsinskaia Ekspertiza
https://www.readbyqxmd.com/read/28246934/forensic-characteristics-and-phylogenetic-analyses-of-the-chinese-yi-population-via-19-x-chromosomal-str-loci
#9
GuangLin He, Ye Li, Xing Zou, Ping Li, PengYu Chen, Feng Song, Tianzhen Gao, Miao Liao, Jing Yan, Jin Wu
The demographic characteristics and genetic polymorphism data of 56 Chinese nationalities or 31 administrative divisions in Chinese mainland have repeatedly been the genetic research hotspots. While most genetic studies focused on some particular Chinese populations based on autosomal or Y-chromosomal genetic markers, the forensic characteristics and phylogenetic analyses of the seventh largest Chinese population (Yi ethnicity) on the X-chromosomal genetic markers are scarce. Here, allele frequencies and forensic statistical parameters for 19 X-chromosomal short tandem repeat loci (DXS7424-DXS101, DXS6789-DXS6809, DXS7423-DXS10134, DXS10103-HPRTB-DXS10101, DXS10159-DXS10162-DXS10164, DXS10148-DXS10135-DXS8378, and DXS7132-DXS10079-DXS10074-DXS10075) of 331 Chinese Yi individuals were obtained...
February 28, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28244283/entire-mitochondrial-dna-sequencing-on-massively-parallel-sequencing-for-the-korean-population
#10
Sohyung Park, Sohee Cho, Hee Jin Seo, Ji Hyun Lee, Moon Young Kim, Soong Deok Lee
Mitochondrial DNA (mtDNA) genome analysis has been a potent tool in forensic practice as well as in the understanding of human phylogeny in the maternal lineage. The traditional mtDNA analysis is focused on the control region, but the introduction of massive parallel sequencing (MPS) has made the typing of the entire mtDNA genome (mtGenome) more accessible for routine analysis. The complete mtDNA information can provide large amounts of novel genetic data for diverse populations as well as improved discrimination power for identification...
April 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28243773/how-many-single-nucleotide-polymorphisms-snps-are-needed-to-replace-short-tandem-repeats-strs-in-forensic-applications
#11
Hyo-Jung Lee, Jae Won Lee, Su Jin Jeong, Mira Park
Short tandem repeats (STRs) are the most commonly used forms of genetic information in forensic identification. In recent times, advances in the information on single nucleotide polymorphisms (SNPs) have raised the possibility that these markers could replace the forensically established STRs. In this work, we conducted comparative simulation studies that allowed us to estimate the number of SNPs needed if these markers were used instead of STRs in criminal cases and paternity investigations.
February 27, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28243771/analysis-of-four-novel-x-chromosomal-short-tandem-repeats-within-71%C3%A2-kb-of-the-xp22-3-region
#12
Takeki Nishi, Kenji Fukui, Kimiharu Iwadate
DNA testing using X-chromosomal short tandem repeat (X-STR) polymorphisms has been used in maternity/paternity and complex kinship cases. Analyses of repeat sequences, surveys on racial statistics, and development of practical applications for DNA testing continue to be reported. In this study, we identified four novel tetranucleotide STR loci located in the X chromosome, which is the basis of X-STR research. These four tetranucleotide STRs were located within 71 kb of the chromosome Xp22.3 region. Using sequence analysis of the structure of repeat sequences, we identified simple repeat sequences of TAAA, CTTT, TATC, and GATA with rare insertions...
February 27, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28243770/sudden-aortic-death-proposal-for-a-comprehensive-diagnostic-approach-in-forensic-and-in-clinical-pathology-practice
#13
Hans H de Boer, Fabrice Dedouit, Nina Chappex, Allard C van der Wal, Katarzyna Michaud
BACKGROUNDS: Aortic rupture or dissection as immediate cause of sudden death is encountered in forensic and clinical autopsy practice. Despite a common denominator of 'sudden aortic death' (SAD), we expect that in both settings the diagnostic workup, being either primarily legal or primarily disease related, differs substantially, which may affect the eventual diagnoses. METHODS: We retrospectively reviewed case records of deceased persons who fitted a diagnosis of SAD in the continuous autopsy cohorts in a forensic (Suisse) and a clinical setting (The Netherlands)...
February 27, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28242603/optimization-and-validation-of-analysis-method-based-on-27-plex-snp-panel-for-ancestry-inference
#14
Jiang Li, Sun Qifan, Ma Quan, Zhao Wenting, Liu Jing, Zhao Lei, Ji Anquan, Li Caixia
Anthropology generally divides the individuals into the East Asian Mongolia race, European Caucasian race and African Nigro race. The 27-plex single nucleotide polymorphism (SNP) panel for ancestry information has been established to differentiate samples from East Asian, European, African and admixture populations of East Asian and European origin by genotyping and ancestry inference. To infer ancestry for unknown individuals, we established an optimized analysis pipeline based on the likelihood ratio, ancestry component and individual ancestry assignment...
February 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28242557/sensitive-dip-str-markers-for-the-analysis-of-unbalanced-mixtures-from-touch-dna-samples
#15
Fabio Oldoni, Vincent Castella, Frederic Grosjean, Diana Hall
Casework samples collected for forensic DNA analysis can produce genomic mixtures in which the DNA of the alleged offender is masked by high quantities of DNA coming from the victim. DIP-STRs are novel genetic markers specifically developed to enable the target analysis of a DNA of interest in the presence of exceeding quantities of a second DNA (up to 1000-fold). The genotyping system, which is based on allele-specific amplifications of haplotypes formed by a deletion/insertion polymorphism (DIP) and a short tandem repeat (STR), combines the capacity of targeting the DNA of an individual with a strong identification power...
February 14, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28235677/optimizing-direct-amplification-of-forensic-commercial-kits-for-str-determination
#16
M Caputo, M C Bobillo, A Sala, D Corach
Direct DNA amplification in forensic genotyping reduces analytical time when large sample sets are being analyzed. The amplification success depends mainly upon two factors: on one hand, the PCR chemistry and, on the other, the type of solid substrate where the samples are deposited. We developed a workflow strategy aiming to optimize times and cost when starting from blood samples spotted onto diverse absorbent substrates. A set of 770 blood samples spotted onto Blood cards, Whatman(®) 3 MM paper, FTA™ Classic cards, and Whatman(®) Grade 1 was analyzed by a unified working strategy including a low-cost pre-treatment, a PCR amplification volume scale-down, and the use of the 3500 Genetic Analyzer as the analytical platform...
January 25, 2017: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/28227475/label-free-detection-of-sex-determining-region-y-sry-via-capacitive-biosensor
#17
Shilpa Sivashankar, Christos Sapsanis, Sumeyra Agambayev, Ulrich Buttner, Khaled Nabil Salama, Shilpa Sivashankar, Christos Sapsanis, Sumeyra Agambayev, Ulrich Buttner, Khaled Nabil Salama, Khaled Nabil Salama, Shilpa Sivashankar, Sumeyra Agambayev, Christos Sapsanis, Ulrich Buttner
In this work, we present for the first time, the use of a simple fractal capacitive biosensor for the quantification and detection of sex-determining region Y (SRY) genes. This section of genetic code, which is found on the Y chromosome, finds importance for study as it causes fetuses to develop characteristics of male sex-like gonads when a mutation occurs. It is also an important genetic code in men, and disorders involving the SRY gene can cause infertility and sexual malfunction that lead to a variety of gene mutational disorders...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28211539/genetic-analysis-of-19-x-chromosome-str-loci-for-forensic-purposes-in-four-chinese-ethnic-groups
#18
Xingyi Yang, Xiaofang Zhang, Junyong Zhu, Linli Chen, Changhui Liu, Xingling Feng, Ling Chen, Huijun Wang, Chao Liu
A new 19 X- short tandem repeat (STR) multiplex PCR system has recently been developed, though its applicability in forensic studies has not been thoroughly assessed. In this study, 932 unrelated individuals from four Chinese ethnic groups (Han, Tibet, Uighur and Hui) were successfully genotyped using this new multiplex PCR system. Our results showed significant linkage disequilibrium between markers DXS10103 and DXS10101 in all four ethnic groups; markers DXS10159 and DXS10162, DXS6809 and DXS6789, and HPRTB and DXS10101 in Tibetan populations; and markers DXS10074 and DXS10075 in Uighur populations...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28208285/determining-gender-by-raman-spectroscopy-of-a-bloodstain
#19
Aliaksandra Sikirzhytskaya, Vitali Sikirzhytski, Igor K Lednev
The development of novel methods for forensic science is a constantly growing area of modern analytical chemistry. Raman spectroscopy is one of a few analytical techniques capable of nondestructive and nearly instantaneous analysis of a wide variety of forensic evidence, including body fluid stains, at the scene of a crime. In this proof-of-concept study, Raman microspectroscopy was utilized for gender identification based on dry bloodstains. Raman spectra were acquired in mapping mode from multiple spots on a bloodstain to account for intrinsic sample heterogeneity...
February 7, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28193507/identification-of-organ-tissue-types-and-skin-from-forensic-samples-by-microrna-expression-analysis
#20
Eva Sauer, Antje Extra, Philipp Cachée, Cornelius Courts
The identification of organ tissues in traces recovered from scenes and objects with regard to violent crimes involving serious injuries can be of considerable relevance in forensic investigations. Molecular genetic approaches are provably superior to histological and immunological assays in characterizing organ tissues, and micro-RNAs (miRNAs), due to their cell type specific expression patterns and stability against degradation, emerged as a promising molecular species for forensic analyses, with a range of tried and tested indicative markers...
February 5, 2017: Forensic Science International. Genetics
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