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"forensic genetic"

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 14, 2018: Annals of Human Biology
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...
February 21, 2018: Forensic Science International
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...
March 5, 2018: Analytical and Bioanalytical Chemistry
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...
February 21, 2018: Forensic Science International. Genetics
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
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...
February 6, 2018: Forensic Science International. Genetics
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...
January 31, 2018: Forensic Science International. Genetics
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...
January 8, 2018: Forensic Science International
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
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...
December 23, 2017: Theoretical Population Biology
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...
December 19, 2017: Forensic Science International. Genetics
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
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
Laura J Heathfield, Sairita Maistry, Lorna J Martin, Raj Ramesar, Jantina de Vries
BACKGROUND: The use of tissue collected at a forensic post-mortem for forensic genetics research purposes remains of ethical concern as the process involves obtaining informed consent from grieving family members. Two forensic genetics research studies using tissue collected from a forensic post-mortem were recently initiated at our institution and were the first of their kind to be conducted in Cape Town, South Africa. MAIN BODY: This article discusses some of the ethical challenges that were encountered in these research projects...
November 29, 2017: BMC Medical Ethics
Weian Du, Zhiyong Peng, Chunlei Feng, Bofeng Zhu, Bangchao Wang, Yue Wang, Chao Liu, Ling Chen
Insertion/deletion polymorphisms (InDels) are ubiquitous diallelic genetic markers that have drawn increasing attention from forensic researchers. Here, we investigated 30 InDel loci in Vietnamese and Nigerian populations and evaluated their usefulness in forensic genetics. The polymorphic information content of these populations ranged, respectively, from 0.164 to 0.375 and from 0.090 to 0.375 across loci. After Bonferroni correction, no significant deviation from Hardy-Weinberg equilibrium was found, except for HLD97 in the Nigerian population...
October 24, 2017: Oncotarget
Chie Morimoto, Sho Manabe, Shuntaro Fujimoto, Yuya Hamano, Keiji Tamaki
Distinguishing relationships with the same degree of kinship (e.g., uncle-nephew and grandfather-grandson) is generally difficult in forensic genetics by using the commonly employed short tandem repeat loci. In this study, we developed a new method for discerning such relationships between two individuals by examining the number of chromosomal shared segments estimated from high-density single nucleotide polymorphisms (SNPs). We computationally generated second-degree kinships (i.e., uncle-nephew and grandfather-grandson) and third-degree kinships (i...
March 2018: Forensic Science International. Genetics
Micaela Poetsch, Manuel Pfeifer, Helen Konrad, Thomas Bajanowski, Janine Helmus
The detection of DNA of a certain person on the inside of a piece of clothing involved in a crime scene is usually seen as confirmation that this person is the owner or bearer and therefore participated in this crime. However, besides the possibilities of secondary or even tertiary transfer of DNA, the accused often argues that he lent the garment to another person who by chance did not leave any DNA while committing the crime. Then, forensic genetic scientists have to answer the question how long DNA persists on an item used in daily routine and how long a piece of clothing must be worn to definitively leave detectable DNA behind...
November 18, 2017: International Journal of Legal Medicine
Pengyu Chen, Yanyan Han, Guanglin He, Haibo Luo, Tianzhen Gao, Feng Song, Dengfu Wan, Jian Yu, Yiping Hou
Haplotype diversity for 23 Y chromosomal short tandem repeat (Y-STR) loci included in the PowerPlex(®) Y23 System was analyzed in the Chinese Gelao minority group of 234 unrelated males living in Daozhen Gelao-Miao Autonomous County in Guizhou Province, southwest China. A total of 216 different haplotypes were detected, of which 199 haplotypes were unique. The overall haplotype diversity (HD) and discrimination capacity (DC) were 0.9996 and 0.9231, respectively. The gene diversity (GD) ranged from 0.4159 (DYS438) to 0...
November 17, 2017: International Journal of Legal Medicine
R Pereira, C Alves, M Aler, A Amorim, C Arévalo, E Betancor, D Braganholi, M L Bravo, P Brito, J J Builes, G Burgos, E F Carvalho, A Castillo, C I Catanesi, R M B Cicarelli, P Coufalova, P Dario, M E D'Amato, S Davison, J Ferragut, M Fondevila, S Furfuro, O García, A Gaviria, I Gomes, E González, A Gonzalez-Liñan, T E Gross, A Hernández, Q Huang, S Jiménez, L F Jobim, A M López-Parra, M Marino, S Marques, G Martínez-Cortés, V Masciovecchio, D Parra, G Penacino, M F Pinheiro, M J Porto, Y Posada, C Restrepo, T Ribeiro, L Rubio, A Sala, A Santurtún, L S Solís, L Souto, E Streitemberger, A Torres, C Vilela-Lamego, J J Yunis, I Yurrebaso, L Gusmão
A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating laboratories...
January 2018: Forensic Science International. Genetics
Sini Kerminen, Aki S Havulinna, Garrett Hellenthal, Alicia R Martin, Antti-Pekka Sarin, Markus Perola, Aarno Palotie, Veikko Salomaa, Mark J Daly, Samuli Ripatti, Matti Pirinen
Coupling dense genotype data with new computational methods offers unprecedented opportunities for individual-level ancestry estimation once geographically precisely defined reference data sets become available. We study such a reference data set for Finland containing 2376 such individuals from the FINRISK Study survey of 1997 both of whose parents were born close to each other. This sampling strategy focuses on the population structure present in Finland before the 1950s. By using the recent haplotype-based methods ChromoPainter (CP) and FineSTRUCTURE (FS) we reveal a highly geographically clustered genetic structure in Finland and report its connections to the settlement history as well as to the current dialectal regions of the Finnish language...
October 5, 2017: G3: Genes—Genomes—Genetics
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