Abstract:
:This review presents the basic problems and currently available molecular techniques used for genetic profiling in disaster victim identification (DVI). The environmental conditions of a mass disaster often result in severe fragmentation, decomposition and intermixing of the remains of victims. In such cases, traditional identification based on the anthropological and physical characteristics of the victims is frequently inconclusive. This is the reason why DNA profiling became the gold standard for victim identification in mass-casualty incidents (MCIs) or any forensic cases where human remains are highly fragmented and/or degraded beyond recognition. The review provides general information about the sources of genetic material for DNA profiling, the genetic markers routinely used during genetic profiling (STR markers, mtDNA and single-nucleotide polymorphisms [SNP]) and the basic statistical approaches used in DNA-based disaster victim identification. Automated technological platforms that allow the simultaneous analysis of a multitude of genetic markers used in genetic identification (oligonucleotide microarray techniques and next-generation sequencing) are also presented. Forensic and population databases containing information on human variability, routinely used for statistical analyses, are discussed. The final part of this review is focused on recent developments, which offer particularly promising tools for forensic applications (mRNA analysis, transcriptome variation in individuals/populations and genetic profiling of specific cells separated from mixtures).
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Ziętkiewicz E,Witt M,Daca P,Zebracka-Gala J,Goniewicz M,Jarząb B,Witt Mdoi
10.1007/s13353-011-0068-7subject
Has Abstractpub_date
2012-02-01 00:00:00pages
41-60issue
1eissn
1234-1983issn
2190-3883journal_volume
53pub_type
杂志文章,评审abstract::Powdery mildew is a prevalent fungal disease affecting oat (Avena sativa L.) production in Europe. Common oat cultivar Rollo was previously shown to carry the powdery mildew resistance gene Eg-3 in common with cultivar Mostyn. The resistance gene was mapped with restriction fragment length polymorphism (RFLP) markers ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-011-0077-6
更新日期:2012-05-01 00:00:00
abstract::Single-nucleotide polymorphisms in genes involved in DNA-damage-induced responses are reported frequently to be a risk factor in various cancer types. Here we analysed polymorphisms in 5 genes involved in DNA repair (XPD Asp312Asn and Lys751Gln, XRCC1 Arg399Gln, APE1 Asp148Glu, NBS1 Glu185Gln, and XPA G-4A) and in a g...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03208865
更新日期:2010-01-01 00:00:00
abstract::Recently, leaf rust and yellow rust caused by the fungi Puccinia triticina Erikss. and P. striiformis Westend f. sp. tritici Eriks and Henn are diseases of increasing threat in triticale (× Triticosecale Wittmack, AABBRR, 2n = 6x = 42) growing areas. The use of genetic resistance is considered the most economical, eff...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-020-00562-8
更新日期:2020-09-01 00:00:00
abstract::The genetic basis of the regeneration process in cultured immature embryos of rye (Secale cereale L.) was analyzed. The experiments were designed to reveal differences between the in vitro culture responses of two inbred lines: L318 (a high regeneration ability) and L9 (a low potential for regeneration). The rye ortol...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-010-0015-z
更新日期:2011-02-01 00:00:00
abstract::The long QT syndrome (LQTS) is an inherited cardiac arrhythmia that may lead to sudden death in the absence of structural heart disease. Mutations in the cardiac potassium and sodium channel genes can be found in approximately 70 percent of patients with a highly probable clinical diagnosis. In this study, we aimed to...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03208882
更新日期:2010-01-01 00:00:00
abstract::Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth. One type of the disorder, MCPH2, is caused by biallelic mutations in the WDR62 gene, which encodes the WD repeat-containing protein 62. Patients with WDR62 mutation may have a wide range of...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:10.1007/s13353-019-00486-y
更新日期:2019-05-01 00:00:00
abstract::Atherosclerosis is the most common cause of death globally. It is a complex disease involving morphological and cellular changes in vascular walls. Studying molecular mechanism of the disease is hindered by disease complexity and lack of robust noninvasive diagnostics in human. Mouse models are the most popular animal...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:10.1007/s13353-013-0134-4
更新日期:2013-05-01 00:00:00
abstract::This article reviews and updates current information on the possible genetic basis for cutaneous lupus erythematosus. The aetiology of this condition remains unknown and is believed to be multifactorial, involving genetic, environmental and retroviral factors. A genetic predisposition is probably the greatest risk fac...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:
更新日期:2004-01-01 00:00:00
abstract::Tibetan semi-wild wheat (Triticum aestivum ssp. tibetanum Shao) is one of the Chinese endemic hexaploid wheat genetic resources, distributed only in the Qinghai-Xizang Plateau of China. It has special characters, such as a hulled glume and spike disarticulation. However, seed dormancy, another important character for ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2005-01-01 00:00:00
abstract::The psbA-trnH intergenic region is among the most variable regions in the gymnosperm chloroplast genome. It is proposed as suitable for DNA barcoding studies and is useful in phylogenetics at the species level. This region consists of two parts differing in their evolutionary characteristics: 1) the psbA 3’UTR (...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03208855
更新日期:2010-01-01 00:00:00
abstract::The contractile protein troponin I (TnI), a constituent protein of the troponin complex located on the thin filaments of striated muscle, is involved in inhibition of calcium-induced myosin ATPase activity (and thus contraction). TnI-slow (slow-twitch skeletal muscle isoform, named TNNI1) and TnI-fast (fast-twitch ske...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195710
更新日期:2010-01-01 00:00:00
abstract::Myostatin (GDF-8) is a key protein responsible for skeletal muscle growth and development, thus mutations in the mstn gene can have major economic and breeding consequences. The aim of the present study was to investigate myostatin gene expression and transcriptional profile in skeletal muscle of Holstein-Friesian (Bl...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195620
更新日期:2008-01-01 00:00:00
abstract::Mutagenicity refers to the induction of permanent changes in the DNA sequence of an organism, which may result in a heritable change in the characteristics of living systems. Antimutagenic agents are able to counteract the effects of mutagens. This group of agents includes both natural and synthetic compounds. Based o...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:10.1007/s13353-014-0198-9
更新日期:2014-05-01 00:00:00
abstract::Starting from two datasets of codon usage in coding sequences from mesophilic and thermophilic bacteria, we used internal correspondence analysis to study the variability of codon usage within and between species, and within and between amino acids. The first dataset included 18,958,458 codons from 58,482 coding seque...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2003-01-01 00:00:00
abstract::In addition to their normal developmental processes, plants have evolved complex genetic and epigenetic regulatory mechanisms to cope with various environmental stresses. It has been shown that both DNA methylation and histone modifications are involved in DNA damage response to various types of stresses. In this stud...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-014-0226-9
更新日期:2014-11-01 00:00:00
abstract::We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous reports and this patient suggest that 6q21 may contain a gene or genes related either directly or ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195240
更新日期:2007-01-01 00:00:00
abstract::A total of 244 domestic pigeons (Columba livia var. domestica) were genotyped using the PCR-RFLP method. A 999 bp fragment of the MTCYB gene was amplified. The amplification products were digested with restriction enzymes. PCR-RFLP for MvaI restriction enzyme was observed. Frequencies of alleles were as follows: MTCYB...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2005-01-01 00:00:00
abstract::Population biobanks offer new opportunities for public health, are rudimentary for the development of its new branch called Public Health Genomics, and are important for translational research. This article presents organizational models of population biobanks in selected European countries. Review of bibliography and...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-012-0082-4
更新日期:2012-05-01 00:00:00
abstract::Interspecific amphihaploid and amphidiploid hybrids between Nicotiana glauca Grah. (2n = 24) and N. tabacum L. (2n = 48) cultivars BY 103 and K 326 were analysed. F1 amphihaploids (2n = 36) were viable and completely self- and cross-sterile, and mostly univalents were present during meiosis (with pairing range from 0 ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2003-01-01 00:00:00
abstract::Hereditary hearing loss (HHL) is a neurosensory disorder that affects every 1/500 newborns worldwide and nearly 1/3 people over the age of 65. Congenital deafness is inherited as monogenetic or polygenic disorder. The delicacy, tissue heterogeneity, deep location of the inner ear down the brainstem, and minute quantit...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:10.1007/s13353-019-00535-6
更新日期:2020-02-01 00:00:00
abstract::Nearly all bacterial species, including pathogens, have the ability to form biofilms. Biofilms are defined as structured ecosystems in which microbes are attached to surfaces and embedded in a matrix composed of polysaccharides, eDNA, and proteins, and their development is a multistep process. Bacterial biofilms const...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:10.1007/s13353-015-0309-2
更新日期:2016-05-01 00:00:00
abstract::We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:10.1007/s13353-015-0333-2
更新日期:2016-08-01 00:00:00
abstract::A simplified AFLP method, based on methylation-sensitive Alw44I restriction endonuclease, has been developed and evaluated for fingerprinting 15 wheat cultivars. The selected germplasms represented groups of spring and winter wheats with and without the 1BL.1RS translocation. Ten selective primers yielded 57 markers, ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2004-01-01 00:00:00
abstract::Spring wheat nursery accessions, including 18 spring wheat lines derived in CIMMYT, Mexico, and 12 spring wheat cultivars bred in Poland, along with cultivars Frontana and Sumai 3 as resistant controls, were examined for resistance to leaf rust under field conditions. Multipathotype tests with 16 different pathogen is...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2003-01-01 00:00:00
abstract::Tumour necrosis factor alpha (TNF-α) is one kind of cytokines which is related to inflammation and lipid metabolism. TNF-α cDNA was cloned from the liver of blunt snout bream (Megalobrama amblycephala) through real-time polymerase chain reaction (PCR) and rapid amplification of cDNA ends (RACE) methods. The full-lengt...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-017-0390-9
更新日期:2017-08-01 00:00:00
abstract::A moderate genotoxic activity of halothane and isoflurane applied as volatile anaesthetics has already been shown. The aim of this work was to estimate a potential genotoxicity of sevoflurane, introduced to clinical practice later than halothane and isoflurane. A genotoxic activity of all three compounds was estimated...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2004-01-01 00:00:00
abstract::Rapid growth in broilers is associated with susceptibility to metabolic disorders such as pulmonary hypertension syndrome (ascites) and sudden death. This study describes a genome search for QTL associated with relative weight of cardio respiratory and metabolically important organs (heart, lungs, liver and gizzard), ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-015-0325-2
更新日期:2016-05-01 00:00:00
abstract::The aim of this study was to evaluate phenotypic variation of R0 androgenic plants obtained from four seed sources and donor plants by anther culture. Several morphological traits (leaf size, petiole length, leaf division, cortex colour) and the range of diversity were evaluated. There was large variation in all trait...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2002-01-01 00:00:00
abstract::Candida sp. have been responsible for an increasing number of infections, especially in patients with immunodeficiency. Species-specific differentiation of Candida sp. is difficult in routine diagnosis. This identification can have a highly significant association in therapy and prophylaxis. This work has shown a new ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-017-0394-5
更新日期:2017-08-01 00:00:00
abstract::Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the presence of consensus "cis" sequences that define exon-intron boundaries and regulatory sequences recognized by splicing machinery. Point mutations at these consensus sequences can cause improper exon and intron recognition and ma...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:10.1007/s13353-018-0444-7
更新日期:2018-08-01 00:00:00