scholarly journals EVOLUTION OF DNA SEQUENCING METHODS AND PROSPECTS FOR THEIR USE IN FORENSIC DNA EXAMINATION

2020 ◽  
Vol 11 (87) ◽  
Author(s):  
Zhanna Bazyliuk ◽  

The study of the human genome makes it possible to use genetic information to identify individual traits, diagnosis of diseases and forecasting and prevention of their development, promotes a personal approach when choosing treatment methods; population research, ethnogenesis and evolutionary processes. Introduction of DNA sequencing methods in domestic genetic fingerprinting will contribute to a more informative establishment of human genetic traits. The main purpose of molecular genetic research is to establish the genetic features of missing people, their relatives, to conduct paternity, to identify traces of biological origin and their identification. This article talks about the gradual development of DNA sequencing technology, which is conventionally divided into three types. The first type includes sequencing using capillary electrophoresis and pyrosequencing. The second type is high-throughput pyrosequencing, semiconductor, cyclic ligase, and the use of fluorescently labeled precursors, based on the sequencing of millions of DNA fragments simultaneously. The third stage includes methods that do not require prior sample preparation. These are methods of nanoporous sequencing, sequencing of one molecule, one-molecular sequencing. Today, each of the sequencing methods is aimed at performing different tasks. A number of methods are promising in the field of molecular-genetic examination. In world jurisprudence, sequencing is implemented mainly with the help of devices - Illumina’s, MiSeq FGx, Ion Torrent PGM from ThermoFisher and Ion S5. Research in forensic expertise of single nucleotide polymorphisms (SNP), sequencing of STR-loci and mitochondrial DNA, STR-loci and SNP-markers of the Y chromosome, will provide a high level of information, determination of human phenotypic traits, the possibility of establishing genetic traits from significantly degraded DNA. This article deals with modern problems of identification of human genetic traits and the prospect of introduction of the newest methods of sequencing for their qualitative and complete establishment.

2018 ◽  
Vol 18 ◽  
pp. 256-263
Author(s):  
V. V. Topchiy

Modern progress in forensic molecular genetic examination allow to obtain information about a particular person using traces variety of biological origin especially while committing grave crimes against human life and health, that are usually found at the scene and belong to a human body. A significant advantage of this method under crime investigation is precisely the safe exclusion of suspected persons not involved in the commission of a crime, in identifying those who committed a crime with a high probability level. At the present stage of forensic molecular genetic examination development there are significant gaps in legislation that are solved by adopting relevant normative and legal acts and improving existing ones. Effective method for of DNA analysis development is the creation of appropriate bases of genetic features of a person. However, the legislative consolidation of this process should take place in the context of respecting and protecting personal rights. However, terms of performing molecular genetic examination significantly exceed the terms of pre-trial investigation. This problem can be solved by expanding network of laboratories that perform such examination. Despite presence of a small number of problems, it is possible to affirm that DNA analysis is the most effective and reliable of all known methods of person identification at the present stage. At present, expert molecular genetic analysis develops not only as a section of molecular genetic research but also as a complete element of criminalistic knowledge that is aimed at investigating and disclosing crimes. Therefore, implementation of molecular genetic research methods into the practice of law enforcement agencies in Ukraine will significantly increase investigation effectiveness of many serious crimes against person.


2020 ◽  
Vol 23 (8) ◽  
pp. 993-998 ◽  
Author(s):  
N. V. Dementeva ◽  
A. B. Vakhrameev ◽  
T. A. Larkina ◽  
O. V. Mitrofanova

In the poultry industry, indicators reflecting the growth rate of young stock and the exterior characteristics of chickens are important benchmarks for breeding. Traditional selection based on phenotypic evaluation is characterized by low efficiency with a low character inheritance ratio and is difficult to apply in small groups of animals and birds bred in bioresource collections. The use of molecular genetic markers associated with economically important traits makes it possible to carry out early selection of birds. This entails an increase in the profitability of the poultry industry. Recently, single nucleotide polymorphisms (SNPs) have served as convenient markers for selection purposes. For five generations (P1–P5), an experimental selection of hens of the Pushkin breed was carried out for live weight. It was based on selection for single nucleotide polymorphism rs313744840 in the MSTN gene. As a result, a significant increase in the frequency of allele A in this gene, from 0.11 to 0.50, took place. The association of SNP markers with meat qualities in the experimental group led to changes in the exterior profile of an adult bird at 330 days of age. The individuals with the AA and AG genotypes had the greatest live weight and longest body. As a result of selection, the bird on average became larger due to an increase in the number of heterozygous individuals with long bodies and large chest girths. The depth of the chest and the width of the pelvis increased due to an increase in the frequency of allele A in the experimental population. A tendency towards an increase in these indicators with the substitution of G with A in the genotype was found. Saturation of the population with desirable alleles led to an increase in the average live weight of the chickens. Analysis of the exterior parameters of adult birds showed that this growth is achieved by increasing the depth and volume of the bird body, and not by increasing the length of the limbs. Thus, marker selection carried out for five generations in the experimental population of Pushkin breed chickens to increase body weight has reliably (p < 0.001) changed the exterior profile of adult birds.


2017 ◽  
pp. 76-79
Author(s):  
Mykola Shevchuk ◽  
Iuliia Demchuk

Over time, the more important question is the preservation of biological material discovered in the wake of material evidence during the immunological expertise for the further application of molecular genetic research methods, which in turn increases the objectivity of evidence and forensic expert results. The article suggested directions, the steps and methods of modern immunology expertise.


Author(s):  
L. Кotliarenko ◽  
А. Коfanov ◽  
O. Коfаnоvа ◽  
V. Zherebak

In forensic practice, biological traces of a person are very often used as material evidence - blood, hair, saliva, semen, urine, sweat, as well as parts of organs and tissues. Establishing the origin of these traces from a specific person is very important for the investigation of criminal offenses. The current level of development of molecular genetic research indicates the need to use DNA analysis in the detection and investigation of criminal offenses against a person. Today, molecular genetic identification reveal reliable prospects for solving identification problems in the criminal proceedings and developing the evidence base, and also has a number of advantages over traditional serological methods for studying human biological traces. It should be noted that along with the traditional method of nuclear DNA research, mitochondrial DNA research is also being carried out, which allows solving the problem of molecular genetic examination to establish biological affinity. The value of this method lies in its effectiveness in the study of a small amount of degraded DNA, secretions and heavily damaged objects, the study of which is impossible by traditional methods. When performing a forensic molecular genetic examination for the full identification of the detected traces when examining the places of committed criminal offenses, comparative samples are important, as well as the selection of appropriate biological samples to establish paternity and family ties. Molecular genetic analysis of DNA is only one of the stages of identification, and in order to arrive at the final result, a statistical analysis of the data obtained is necessary, which is especially important when the genotypes of the criminal and the suspect in mixed tracks coincide. For a probable-statistical assessment of the results of the identification significance of the set of established genetic traits, the frequencies of the distribution of the studied alleles in the population are required. Today, the DNA analysis method has become one of the most demanded directions in the development of forensic examinations, and its results are quite reliable evidence of the involvement of a specific person in a crime. Due to its unique capabilities, molecular genetic analysis of DNA is a powerful tool in the investigation of criminal proceedings.


HortScience ◽  
2014 ◽  
Vol 49 (11) ◽  
pp. 1360-1364
Author(s):  
Daofeng Liu ◽  
Jing Ma ◽  
Jianfeng Yang ◽  
Tien V. Nguyen ◽  
Huamin Liu ◽  
...  

Wintersweet is a woody ornamental plant and has a long history of human cultivation. Few molecular markers have been characterized and remain scant in wintersweet. This study aimed to mine simple sequence repeats (SSRs) and single nucleotide polymorphisms (SNPs) from the transcriptomic database of wintersweet. A total of 3972 SSRs and 97,060 putative SNPs/indels (92,307 SNPs and 4753 indels) were identified in this data set. This study marks the highest number of SSR and SNP markers discovered to date from wintersweet by using transcriptome sequencing data. These identified markers will provide a useful source for molecular genetic studies such as genetic diversity and characterization, association mapping, and map-based gene cloning in wintersweet.


2021 ◽  
Vol 22 (13) ◽  
pp. 6722
Author(s):  
Do Yoon Hyun ◽  
Raveendar Sebastin ◽  
Gi-An Lee ◽  
Kyung Jun Lee ◽  
Seong-Hoon Kim ◽  
...  

Melon (Cucumis melo L.) is an economically important horticultural crop with abundant morphological and genetic variability. Complex genetic variations exist even among melon varieties and remain unclear to date. Therefore, unraveling the genetic variability among the three different melon varieties, muskmelon (C. melo subsp. melo), makuwa (C. melo L. var. makuwa), and cantaloupes (C. melo subsp. melo var. cantalupensis), could provide a basis for evolutionary research. In this study, we attempted a systematic approach with genotyping-by-sequencing (GBS)-derived single nucleotide polymorphisms (SNPs) to reveal the genetic structure and diversity, haplotype differences, and marker-based varieties differentiation. A total of 6406 GBS-derived SNPs were selected for the diversity analysis, in which the muskmelon varieties showed higher heterozygote SNPs. Linkage disequilibrium (LD) decay varied significantly among the three melon varieties, in which more rapid LD decay was observed in muskmelon (r2 = 0.25) varieties. The Bayesian phylogenetic tree provided the intraspecific relationships among the three melon varieties that formed, as expected, individual clusters exhibiting the greatest genetic distance based on the posterior probability. The haplotype analysis also supported the phylogeny result by generating three major networks for 48 haplotypes. Further investigation for varieties discrimination allowed us to detect a total of 52 SNP markers that discriminated muskmelon from makuwa varieties, of which two SNPs were converted into cleaved amplified polymorphic sequence markers for practical use. In addition to these markers, the genome-wide association study identified two SNPs located in the genes on chromosome 6, which were significantly associated with the phenotypic traits of melon seed. This study demonstrated that a systematic approach using GBS-derived SNPs could serve to efficiently classify and manage the melon varieties in the genebank.


2021 ◽  
Author(s):  
Tomas W Fitzgerald ◽  
Ian Brettell ◽  
Adrien Leger ◽  
Nadeshda Wolf ◽  
Natalja Kusminski ◽  
...  

Unraveling the relationship between genetic variation and phenotypic traits remains a fundamental challenge in biology. Mapping variants underlying complex traits while controlling for confounding environmental factors is often problematic. To address this, we have established a vertebrate genetic resource specifically to allow for robust genotype-to-phenotype investigations. The teleost medaka (Oryzias latipes) is an established genetic model system with a long history of genetic research and a high tolerance to inbreeding from the wild. Here we present the Medaka Inbred Kiyosu-Karlsruhe (MIKK) panel: the first near-isogenic panel of 80 inbred lines in a vertebrate model derived from a wild founder population. Inbred lines provide fixed genomes that are a prerequisite for the replication of studies, studies which vary both the genetics and environment in a controlled manner and functional testing. The MIKK panel will therefore enable phenotype-to-genotype association studies of complex genetic traits while allowing for careful control of interacting factors, with numerous applications in genetic research, human health, and drug development and fundamental biology. Here we present a detailed characterisation of the genetic variation across the MIKK panel, which provides a rich and unique genetic resource to the community by enabling large-scale experiments for mapping complex traits.


2021 ◽  
Author(s):  
Li Hui ◽  
Chang Li ◽  
Tang Huijuan ◽  
Luan Mingbao ◽  
Pan Gen ◽  
...  

Abstract Quantitative trait locus (QTL) mapping is a useful method for revealing the mechanism of complex genetic traits and identifying new genomic information to accelerate crop improvement. In the present study, 154 F2:3 strains and their parents were used for restriction site-associated DNA sequencing, single-nucleotide polymorphism (SNP) identification, and genetic map construction. After filtering based on stringent filtering standards, 297.5 Gb of clean data were obtained. Further, 5,191 polymorphic SNP markers were identified from each sample, of which 1,997 polymorphic SNP markers were successfully mapped onto 18 different linkage groups. Six QTLs (QPH, QFBW, QDBW, QFW, QFT, and QFC) were identified based on the genetic map using the multiple QTL mapping (MQM) method, which were then assigned to three linkage groups, LG16, LG8, and LG3. QPH, QFBW, QDBW, and QFW were related to fiber yield, while QFT and QFC were related to fiber quality. This is the first study of its kind to map QTL of fiber yield and fiber quality, which will facilitate further understanding of the molecular genetic basis of these traits. However, there are limitations regarding the utilization of this map because several large gaps remain in some linkage groups. Therefore, additional markers need to be developed to further narrow these regions.


Database ◽  
2020 ◽  
Vol 2020 ◽  
Author(s):  
Paul A Wilkinson ◽  
Alexandra M Allen ◽  
Simon Tyrrell ◽  
Luzie U Wingen ◽  
Xingdong Bian ◽  
...  

Abstract CerealsDB (www.cerealsdb.uk.net) is an online repository of mainly hexaploid wheat (Triticum aestivum) single nucleotide polymorphisms (SNPs) and genotyping data. The CerealsDB website has been designed to enable wheat breeders and scientists to select the appropriate markers for research breeding tasks, such as marker-assisted selection. We report a large update of genotyping information for over 6000 wheat accessions and describe new webtools for exploring and visualizing the data. We also describe a new database of quantitative trait loci that links phenotypic traits to CerealsDB SNP markers and allelic scores for each of those markers. CerealsDB is an open-access website that hosts information on wheat SNPs considered useful for both plant breeders and research scientists. The latest CerealsDB database is available at https://www.cerealsdb.uk.net/cerealgenomics/CerealsDB/indexNEW.php.


Author(s):  
Valentyn Pomohaibo ◽  
Natalia Karapuzova ◽  
Yuliia Pavlenko

The article provides an overview of the results of modern genetic studies of human cognitive abilities. Finding genetic factors, associated with cognitive abilities, will have far-reaching ramifications at all levels of understanding from DNA to brain and to behavior. Despite its complexity, cognitive ability is a reasonable candidate for molecular genetic research because it is one of the most heritable features of behavior. The first attempts to find genetic factors, associated with cognitive abilities, focused on genes, involved in brain development and function, but this direction proved to be unproductive, as it turned out that there are about 18.000 genes, and it was too difficult to detect among them those genes that are involved in cognitive processes. In addition, a considerable number of genetic factors of human traits are single-nucleotide polymorphisms (SNPs) which are in non-coding DNA regions rather than in traditional genes. The effect of each separate SNP is unimportant, and a clear expression of the general cognitive ability is noticeable only if all the associated SNPs are involved. Currently, over 11,000 such SNPs have been identified, which are uneven in different functional regions of the genome: over 60 % in gene introns, almost 30 % in intergenic DNA regions, about 5 % in gene exons, and about 5 % in transcribed regions (downstream, upstream) and frame regions (UTR'5, UTR'3) of genes. Also there are found 74 SNPs, associated with school achievements. These SNPs are disproportionately located in genes that regulate transcription and alternative splicing of other genes, which are expressed in nerve tissues of the brain during its prenatal development. Finding genetic factors that explain the inheritance of cognitive abilities is important for both science and society. Information about these factors can be used in other fields of human science – human genetics and medicine. It will open up new scientific horizons for education too owing to understanding of the genetic aspects of learning and memory


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