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Forensic genetics

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https://www.readbyqxmd.com/read/28544956/dna-commission-of-the-international-society-for-forensic-genetics-isfg-guidelines-on-the-use-of-x-strs-in-kinship-analysis
#1
Andreas O Tillmar, Daniel Kling, John M Butler, Walther Parson, Mechthild Prinz, Peter M Schneider, Thore Egeland, Leonor Gusmão
Forensic genetic laboratories perform an increasing amount of genetic analyses of the X chromosome, in particular to solve complex cases of kinship analysis. For some biological relationships X-chromosomal markers can be more informative than autosomal markers, and there are a large number of markers, methods and databases that have been described for forensic use. Due to their particular mode of inheritance, and their physical location on a single chromosome, some specific considerations are required when estimating the weight of evidence for X-chromosomal marker DNA data...
May 13, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28544375/proteomic-analysis-of-hair-shafts-from-monozygotic-twins-expression-profiles-and-genetically-variant-peptides
#2
Pei-Wen Wu, Katelyn E Mason, Blythe P Durbin-Johnson, Michelle Salemi, Brett S Phinney, David M Rocke, Glendon J Parker, Robert H Rice
Forensic association of hair shaft evidence with individuals is currently assessed by comparing mitochondrial DNA haplotypes of reference and casework samples, primarily for exclusionary purposes. Present work tests and validates more recent proteomic approaches to extract quantitative transcriptional and genetic information from hair samples of monozygotic twin pairs, which would be predicted to partition away from unrelated individuals if the datasets contain identifying information. Protein expression profiles and polymorphic, genetically variant hair peptides were generated from 10 pairs of monozygotic twins...
May 22, 2017: Proteomics
https://www.readbyqxmd.com/read/28535279/identification-of-forensically-important-blow-flies-diptera-calliphoridae-in-china-based-on-coi
#3
Fanming Meng, Lipin Ren, Ziyue Wang, Jianqiang Deng, Yadong Guo, Chao Chen, Dmitrijs Finkelbergs, Jifeng Cai
Blow flies are among the most important insects in forensic entomology casework. Identification of blow fly species can be a time consuming and difficult task, especially at their early development stages. Present DNA-based technologies provide a promising identification method for these forensically important calliphorids. The cytochrome oxidase subunit I (COI) sequence has been applied as a suitable DNA marker in calliphorid identification for many years; however, limitation exists in using short sequence to determine genetically close species...
May 23, 2017: Journal of Medical Entomology
https://www.readbyqxmd.com/read/28525397/an-unusual-case-of-sudden-death-is-there-a-relationship-between-thyroid-disorders-and-fatal-pulmonary-thromboembolism-a-case-report-and-review-of-literature
#4
Isabella Aquila, Silvia Boca, Fiorella Caputo, Matteo A Sacco, Santo Gratteri, Vittorio Fineschi, Pietrantonio Ricci
In adults, the most common cause of sudden death is coronary heart disease or defects in the cardiac conduction system; however, there are many cases of sudden death occurring from other causes such as fatal pulmonary thromboembolism. Several risk factors are recognized, including hospitalization, surgery, obesity, pregnancy, the use of oral contraceptives, traumatic fractures, and genetic conditions, which cause hypercoagulable states such as factor V Leiden mutations. Although many risk factors have been identified, the mortality rate is still high...
May 19, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28524106/connecting-the-dots-from-an-easy-method-to-computerized-species-determination
#5
Senta Niederegger, Klaus-Peter Döge, Marcus Peter, Tobias Eickhölter, Gita Mall
Differences in growth rate of forensically important dipteran larvae make species determination an essential requisite for an accurate estimation of time since colonization of the body. Interspecific morphological similarities, however, complicate species determination. Muscle attachment site (MAS) patterns on the inside of the cuticula of fly larvae are species specific and grow proportionally with the animal. The patterns can therefore be used for species identification, as well as age estimation in forensically important dipteran larvae...
May 18, 2017: Insects
https://www.readbyqxmd.com/read/28516222/population-data-of-17-y-strs-yfiler-from-punjabis-and-kashmiris-of-pakistan
#6
Atif Adnan, Allah Rakha, Anum Noor, Mannis van Oven, Arwin Ralf, Manfred Kayser
Pakistan harbors 16 major ethnic groups including Punjabis (56% of total population) and Kashmiri (6% of total population). Here, we report data of 17 Y-chromosomal short tandem repeats (Y-STRs) genotyped with the AmpFlSTR Y-filer™ PCR Amplification kit in 94 Punjabis and 101 Kashmiris. The estimated haplotype diversity was higher in Punjabis (0.996) than that in Kashmiris (0.983). Furthermore, we performed population genetic analyses by including data from six other Pakistani groups. The presented haplotype data were recently included in the Y-Chromosome Haplotype Reference Database (YHRD) for future forensic and other usage...
May 17, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28511094/isolation-and-genetic-analysis-of-pure-cells-from-forensic-biological-mixtures-the-precision-of-a-digital-approach
#7
F Fontana, C Rapone, G Bregola, R Aversa, A de Meo, G Signorini, M Sergio, A Ferrarini, R Lanzellotto, G Medoro, G Giorgini, N Manaresi, A Berti
Latest genotyping technologies allow to achieve a reliable genetic profile for the offender identification even from extremely minute biological evidence. The ultimate challenge occurs when genetic profiles need to be retrieved from a mixture, which is composed of biological material from two or more individuals. In this case, DNA profiling will often result in a complex genetic profile, which is then subject matter for statistical analysis. In principle, when more individuals contribute to a mixture with different biological fluids, their single genetic profiles can be obtained by separating the distinct cell types (e...
May 1, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28507140/linkage-disequilibrium-matches-forensic-genetic-records-to-disjoint-genomic-marker-sets
#8
Michael D Edge, Bridget F B Algee-Hewitt, Trevor J Pemberton, Jun Z Li, Noah A Rosenberg
Combining genotypes across datasets is central in facilitating advances in genetics. Data aggregation efforts often face the challenge of record matching-the identification of dataset entries that represent the same individual. We show that records can be matched across genotype datasets that have no shared markers based on linkage disequilibrium between loci appearing in different datasets. Using two datasets for the same 872 people-one with 642,563 genome-wide SNPs and the other with 13 short tandem repeats (STRs) used in forensic applications-we find that 90-98% of forensic STR records can be connected to corresponding SNP records and vice versa...
May 15, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28500464/global-skin-colour-prediction-from-dna
#9
Susan Walsh, Lakshmi Chaitanya, Krystal Breslin, Charanya Muralidharan, Agnieszka Bronikowska, Ewelina Pospiech, Julia Koller, Leda Kovatsi, Andreas Wollstein, Wojciech Branicki, Fan Liu, Manfred Kayser
Human skin colour is highly heritable and externally visible with relevance in medical, forensic, and anthropological genetics. Although eye and hair colour can already be predicted with high accuracies from small sets of carefully selected DNA markers, knowledge about the genetic predictability of skin colour is limited. Here, we investigate the skin colour predictive value of 77 single-nucleotide polymorphisms (SNPs) from 37 genetic loci previously associated with human pigmentation using 2025 individuals from 31 global populations...
May 12, 2017: Human Genetics
https://www.readbyqxmd.com/read/28465476/genetic-variation-and-forensic-efficiency-of-autosomal-insertion-deletion-polymorphisms-in-chinese-bai-ethnic-group-phylogenetic-analysis-to-other-populations
#10
Chun-Hua Yang, Cai-Yong Yin, Chun-Mei Shen, Yu-Xin Guo, Qian Dong, Jiang-Wei Yan, Hong-Dan Wang, Yu-Dang Zhang, Hao-Tian Meng, Rui Jin, Feng Chen, Bo-Feng Zhu
Thirty insertion/deletion loci were utilized to study the genetic diversities of 125 bloodstain samples collected from Bai group in Yunnan Dali region, China. The observed heterozygosity and expected heterozygosity of the 30 loci ranged from 0.1520 to 0.5680, and 0.1927 to 0.4997, respectively. No deviations from Hardy-Weinberg equilibrium tests after Bonferroni correction were found at all 30 loci in Bai group. The cumulative probability of exclusion and combined discrimination power were 0.9859 and 0.9999999999887, respectively, which indicated the 30 loci could be used as complementary genetic markers for paternity testing and were qualified for personal identification in forensic cases...
April 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28463807/a-genomic-audit-of-newly-adopted-autosomal-strs-for-forensic-identification
#11
C Phillips
In preparation for the growing use of massively parallel sequencing (MPS) technology to genotype forensic STRs, a comprehensive genomic audit of 73 STRs was made in 2016 [Parson et al., Forensic Sci. Int. Genet. 22, 54-63]. The loci examined included miniSTRs that were not in widespread use, but had been incorporated into MPS kits or were under consideration for this purpose. The current study expands the genomic analysis of autosomal STRs that are not commonly used, to include the full set of developed miniSTRs and an additional 24 STRs, most of which have been recently included in several supplementary forensic multiplex kits for capillary electrophoresis...
April 23, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28461042/forensic-characteristics-and-phylogenetic-analysis-of-hubei-han-population-in-central-china-using-17-y-str-loci
#12
Zheng Wang, Weian Du, Guanglin He, Jing Liu, Yiping Hou
Currently, the largest national database within the Y chromosome haplotype reference database (YHRD, https://yhrd.org, release 53) is China, which has approximately 38000 Y chromosomal 17-marker (Yfiler) haplotypes. These haplotype profiles derived from the vast majority of Chinese administrative divisions, but no haplotype data was available for Hubei province, which is located in the Central China region. Herein, 429 unrelated male Chinese Han individuals residing in Hubei province were recruited and genotyped with 17 Y-STR loci...
April 20, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28460352/characterization-of-nist-human-mitochondrial-dna-srm-2392-and-srm-2392-i-standard-reference-materials-by-next-generation-sequencing
#13
Sarah Riman, Kevin M Kiesler, Lisa A Borsuk, Peter M Vallone
Standard Reference Materials SRM 2392 and 2392-I are intended to provide quality control when amplifying and sequencing human mitochondrial genome sequences. The National Institute of Standards and Technology (NIST) offers these SRMs to laboratories performing DNA-based forensic human identification, molecular diagnosis of mitochondrial diseases, mutation detection, evolutionary anthropology, and genetic genealogy. The entire mtGenome (∼16569bp) of SRM 2392 and 2392-I have previously been characterized at NIST by Sanger sequencing...
April 15, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28455625/toward-a-consensus-on-snp-and-str-mutation-rates-on-the-human-y-chromosome
#14
REVIEW
O Balanovsky
The mutation rate on the Y-chromosome matters for estimating the time-to-the-most-recent-common-ancestor (TMRCA, i.e. haplogroup age) in population genetics, as well as for forensic, medical, and genealogical studies. Large-scale sequencing efforts have produced several independent estimates of Y-SNP mutation rates. Genealogical, or pedigree, rates tend to be slightly faster than evolutionary rates obtained from ancient DNA or calibrations using dated (pre)historical events. It is, therefore, suggested to report TMRCAs using an envelope defined by the average aDNA-based rate and the average pedigree-based rate...
May 2017: Human Genetics
https://www.readbyqxmd.com/read/28454050/forensic-genetic-analyses-in-isolated-populations-with-examples-of-central-european-valachs-and-roma
#15
REVIEW
Edvard Ehler, Daniel Vanek
Isolated populations present a constant threat to the correctness of forensic genetic casework. In this review article we present several examples of how analyzing samples from isolated populations can bias the results of the forensic statistics and analyses. We select our examples from isolated populations from central and southeastern Europe, namely the Valachs and the European Roma. We also provide the reader with general strategies and principles to improve the laboratory practice (best practice) and reporting of samples from supposedly isolated populations...
April 13, 2017: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/28453177/validation-of-a-reaction-volume-reduction-protocol-for-analysis-of-y-chromosome-haplotypes-targeting-dna-databases
#16
C A Souza, T C Oliveira, S Crovella, S M Santos, K C N Rabêlo, E P Soriano, M V D Carvalho, A F Caldas Junior, G G Porto, R I C Campello, A A Antunes, R A Queiroz, S M Souza
The use of Y chromosome haplotypes, important for the detection of sexual crimes in forensics, has gained prominence with the use of databases that incorporate these genetic profiles in their system. Here, we optimized and validated an amplification protocol for Y chromosome profile retrieval in reference samples using lesser materials than those in commercial kits. FTA(®) cards (Flinders Technology Associates) were used to support the oral cells of male individuals, which were amplified directly using the SwabSolution reagent (Promega)...
April 28, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28452296/forensic-approaches-to-detect-possible-agents-of-bioterror
#17
Alfredo A González, Jessica I Rivera-Pérez, Gary A Toranzos
Many biological agents have been strategic pathogenic agents throughout history. Some have even changed history as a consequence of early discoveries of their use as weapons of war. Many of these bioagents can be easily isolated from the environment, and some have recently been genetically manipulated to become more pathogenic for biowarfare. However, it is difficult to determine accidental outbreaks of disease from intentional exposures. In this review, we examine how molecular tools have been used in combination with forensic research to resolve cases of unusual outbreaks and trace the source of the biocrime...
April 2017: Microbiology Spectrum
https://www.readbyqxmd.com/read/28444439/back-to-the-future-part-2-post-mortem-assessment-and-evolutionary-role-of-the-bio-medicolegal-sciences
#18
REVIEW
Santo Davide Ferrara, Giovanni Cecchetto, Rossana Cecchi, Donata Favretto, Silke Grabherr, Takaki Ishikawa, Toshikazu Kondo, Massimo Montisci, Heidi Pfeiffer, Maurizio Rippa Bonati, Dina Shokry, Marielle Vennemann, Thomas Bajanowski
Part 2 of the review "Back to the Future" is dedicated to the evolutionary role of the bio-medicolegal sciences, reporting the historical profiles, the state of the art, and prospects for future development of the main related techniques and methods of the ancillary disciplines that have risen to the role of "autonomous" sciences, namely, Genetics and Genomics, Toxicology, Radiology, and Imaging, involved in historic synergy in the "post-mortem assessment," together with the mother discipline Legal Medicine, by way of its primary fundament, universally denominated as Forensic Pathology...
April 25, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28436466/genome-wide-profiling-of-heritable-and-de-novo-str-variations
#19
Thomas Willems, Dina Zielinski, Jie Yuan, Assaf Gordon, Melissa Gymrek, Yaniv Erlich
Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases, population genetics applications, and forensic casework. However, it has proven problematic to genotype STRs from high-throughput sequencing data. Here, we describe HipSTR, a novel haplotype-based method for robustly genotyping and phasing STRs from Illumina sequencing data, and we report a genome-wide analysis and validation of de novo STR mutations. HipSTR is freely available at https://hipstr-tool...
April 24, 2017: Nature Methods
https://www.readbyqxmd.com/read/28434084/population-data-of-23-autosomal-str-loci-in-the-chinese-han-population-from-guangdong-province-in-southern-china
#20
Luyu Yang, Xiufeng Zhang, Lijuan Zhao, Yanan Sun, Jiajue Li, Renwu Huang, Liping Hu, Shengjie Nie
The genetic polymorphisms of 23 autosomal short tandem repeat (STR) loci included in the HuaxiaTM Platinum kit were evaluated in 1533 unrelated healthy Guangdong Han individuals living in the Guangdong Province in southern China. All of the loci reached the Hardy-Weinberg equilibrium. These loci were examined to determine the allele frequencies and forensic statistical parameters. The genetic relationship between the Guangdong Han and other Chinese populations was also estimated. The combined discrimination power and the probability of excluding the paternity of 23 STR loci were 0...
April 22, 2017: International Journal of Legal Medicine
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