Panel Of Genetic Markers Research Articles

Informative genetic markers of predisposition to the formation of high-level intelligence

This study is devoted to investigating the association of intelligence with a person’s genotype. Comparative psychological and molecular genetic testing was carried out on a representative sample of Belarusian population representatives numbering 746 people. Intelligence quotient (IQ) was determined using D. Wechsler’s test. It was established that the distribution of general intelligence values among the Belarusian population representatives was shifted towards higher results. The persons were divided into low and high IQ groups using the quartile method. The association of intelligence level with genotype was determined using a panel of genetic markers consisting of 18 gene polymorphic variants of neurogenesis, synaptic plasticity and neurotransmitter systems. Molecular genetic testing was carried out using real-time PCR. To automate a search for informative gene combinations associated with cognitive abilities, we used a special computer program that we had previously developed, taking into account the gene interaction effects. 15 most informative combinations of polymorphic gene variants associated with a high intelligence level were identified. These gene variants can be used to assess a genetic predisposition to the formation of high-level intelligence, which will allow assessing the abilities of candidates for extreme activities.

Individual Identification and Assessment of Genetic Diversity Using Microsatellite Markers in Racing Pigeons Raised in Turkiye

The implementation of a swift and economical molecular genetic approach, ensuring both efficacy and cost-effectiveness and facilitating population certification, is of utmost significance for breeders and the conservation of Turkiye's native pigeon biodiversity. In this study, we aimed to examine the genetic structure of racing pigeons (Columba livia domestica) raised in Turkiye using a genetic marker panel consisting of eight short tandem repeat (STR) loci. For this purpose, DNA was isolated from the shed feathers of 216 pigeons. Genomic DNA was amplified using the multiplex allele-specific PCR and subsequent capillary electrophoresis with ABI PRISM 3130XL Genetic Analyzer. Next, PCR products were analyzed in the GeneMapper Software program (Applied Biosystems). For parent testing, paternity index (PI), combined paternity index (CPI), and cumulative probability of paternity (CPP) were calculated. Furthermore, population genetic diversity was evaluated using heterozygosity (He), polymorphism information content (PIC), and Hardy–Weinberg equilibrium (HWE) testing. Results revealed that the total number of alleles is 81 and the number of alleles per locus varies between 4 and 19. The similarity rate between parent and offspring was calculated as 99.99% and above. Since no pedigree information was given when the samples were analyzed, obtaining this similarity ratio demonstrates the reliability of the panel. He values range from 0.362 to 0.919, and the PIC values range from 0.295 to 0.909. Loci PG-1, PG-2, and PG-3 show significant genetic diversity, with moderate to high PIC values reflecting varied allele frequencies in the population. Consequently, the set of seven STR markers (+ one sex marker) can be applied to identify and confirm parentage on a regular basis, thereby facilitating efficient breeding programs and ensuring genetic diversity conservation. This panel enables efficient pedigree analysis and gender determination, optimizing cost-effectiveness. The methodology presented in this study is ideal for pedigree analysis and breed certification in the Turkish pigeon breeding industry. Consequently, we affirm that the study data carries considerable national importance.

A Public Mid-Density Genotyping Platform for Hexaploid Sweetpotato (Ipomoea batatas [L.] Lam).

Small public breeding programs focused on specialty crops have many barriers to adopting technology, particularly creating and using genetic marker panels for genomic-based decisions in selection. Here, we report the creation of a DArTag panel of 3120 loci distributed across the sweetpotato (Ipomoea batatas [L.] Lam) genome for molecular-marker-assisted breeding and genomic prediction. The creation of this marker panel has the potential to bring cost-effective and rapid genotyping capabilities to sweetpotato breeding programs worldwide. The open access provided by this platform will allow the genetic datasets generated on the marker panel to be compared and joined across projects, institutions, and countries. This genotyping resource has the power to make routine genotyping a reality for any breeder of sweetpotato.

STRATIFICATION OF WELL-DIFFERENTIATED THYROID CANCER BASED ON MOLECULAR GENETIC TESTING: A LITERATURE REVIEW

Relevance: Thyroid cancer (TC) is among the most significant malignant diseases of the head and neck, with a steadily growing number of newly diagnosed cases throughout the world. Despite a relatively modest 17th place of TC in the structure of cancer incidence, its treatment in recent decades has seriously worried scientists and physicians due to a very rapid increase in TC incidence among young and middle-aged people. Iodine deficiency decreases immune function, and the effects of ionizing radiation play a role in the development of thyroid cancer. This leads to the development of a stratification system for well-differentiated thyroid cancer (WDTC) at the molecular genetic level. This system is necessary to select patients at risk of progression and to apply aggressive radionuclide therapy and suppressive hormone therapy only to those patients who need it. The study aimed to systematize data from the current literature to assess the need to develop a prognostic stratification of patients with WDTC based on molecular genetic testing. Methods: A literature review of scientific publications was conducted from the PubMed search database from September 2017 to December 2023. Inclusion criteria: publication date from 2017 to present for the main keywords: ‘High differentiated thyroid cancer”, “ prognostic stratification of WDTC based on molecular tests, ‘WDTC mutation markers.’ Some clinical studies of domestic and foreign specialists were also considered. Results: Based on a meta-review of literature data on prognostic stratification of WDTC patients, the rationale for expanding the panel of genetic markers associated with aggressive forms of WDTC is presented, the importance of gene mutation in the occurrence of disease recurrence, and the choice of adequate treatment is proven. Conclusions: Research efforts are underway to find genetic and pathomorphologic predictors of the prognosis of the disease. Knowledge of molecular and genetic mechanisms of tumorigenesis provides a wide range of opportunities for applying molecular diagnostics in differential diagnosis, prognosis of the course of the disease, and treatment of aggressive forms of tumors.

A public mid-density genotyping platform for cultivated blueberry (Vaccinium spp.)

Small public breeding programmes have many barriers to adopting technology, particularly creating and using genetic marker panels for genomic-based decisions in selection. Here we report the creation of a DArTag panel of 3,000 loci distributed across the tetraploid genome of blueberry (Vaccinium corymbosum) for use in molecular breeding and genomic prediction. The creation of this marker panel brings cost-effective and rapid genotyping capabilities to public and private breeding programmes. The open access provided by this platform will allow genetic data sets generated on the marker panel to be compared and joined across projects, institutions and countries. This genotyping resource has the power to make routine genotyping a reality for any breeder of blueberry.

An improved genetic marker panel for conservation monitoring of upper Kootenay River burbot

An improved genetic marker panel for conservation monitoring of upper Kootenay River burbot

TRMT10C gene polymorphisms confer hepatoblastoma susceptibility: evidence from a seven-center case-control study.

N1-methyladenosine (m1A) is a reversible epigenetic modification of RNAs. Aberrant m1A modification levels due to dysregulation of m1A regulators have been observed in multiple cancers. tRNA methyltransferase 10C (TRMT10C) can install m1A in RNAs; however, its role in hepatoblastoma remains unknown. We conducted this study to identify causal polymorphisms in the TRMT10C gene for hepatoblastoma susceptibility in a cohort of Chinese children (313 cases vs. 1446 controls). The genotypes of four potential functional polymorphisms (rs7641261 C>T, rs2303476 T>C, rs4257518 A>G, and rs3762735 C>G) were determined in participants using TaqMan real-time PCR. The associations of these polymorphisms with hepatoblastoma susceptibility were estimated by logistic regression analysis adjusted for age and sex. All four polymorphisms were significantly associated with hepatoblastoma risk. In particular, under the recessive genetic model, these polymorphisms conferred an increased risk of hepatoblastoma: rs7641261 C>T [adjusted odds ratio (OR)=1.64, 95% confidence interval (CI)=1.04-2.58, P=0.033], rs2303476 T>C (adjusted OR=1.87, 95% CI=1.16-3.02, P=0.010), rs4257518 A>G (adjusted OR=1.45, 95% CI=1.09-1.94, P=0.012), and rs3762735 C>G (adjusted OR=3.83, 95% CI=2.15-6.82, P<0.0001). Combined analysis revealed that kids had an increased risk of developing hepatoblastoma if they harbored at least one risk genotype (adjusted OR=1.94, 95% CI=1.48-2.54, P<0.0001). In addition, the combined risk effects of the four SNPs persisted across all the subgroups. We identified four hepatoblastoma susceptibility loci in the TRMT10C gene. Identifying more disease-causing loci may facilitate the development of genetic marker panels to predict individuals' hepatoblastoma predisposition.

Genetics of Aberrant Immune Responses During Tumor Progression Among Iranian Population

The immune system has a critical tumor suppressor function via the detection and elimination of the tumor cells. Tumor cells' immune escaping is commonly observed during neoplastic transformations. Immune response suppression or aberrations facilitate immune escape that promotes tumor progression in distant or primary locations via epithelial-mesenchymal transition and angiogenesis, respectively. It has been reported that there is a rising trend of cancer incidence among the Iranian population. Since aberrant immune responses are involved in tumorigenesis; immunotherapeutic methods can be efficient for tumor cell elimination. In the present review, we discussed all of the immune-related genes that have been associated with tumor progression among the Iranian population to clarify the genetics of immune deficiency during tumor progression in this population. T regulatory and T helper related genes were the most frequently deregulated genes during tumor progression in the Iranian population. This review paves the way to suggest an immune-specific panel of genetic markers for diagnostic and immunotherapeutic purposes among Iranian cancer patients.

A public mid-density genotyping platform for alfalfa (Medicago sativa L.)

Small public breeding programmes have many barriers to adopting technology, particularly creating and using genetic marker panels for genomic-based decisions in selection. Here we report the creation of a DArTag panel of 3,000 loci distributed across the alfalfa (Medicago sativa L.) genome for use in molecular breeding and genomic insight. The creation of this marker panel brings cost-effective and rapid genotyping capabilities to alfalfa breeding programmes. The open access provided by this platform will allow genetic data sets generated on the marker panel to be compared and joined across projects, institutions and countries. This genotyping resource has the power to make routine genotyping a reality for any breeder of alfalfa.

Genes and Athletic Performance: The 2023 Update.

Phenotypes of athletic performance and exercise capacity are complex traits influenced by both genetic and environmental factors. This update on the panel of genetic markers (DNA polymorphisms) associated with athlete status summarises recent advances in sports genomics research, including findings from candidate gene and genome-wide association (GWAS) studies, meta-analyses, and findings involving larger-scale initiatives such as the UK Biobank. As of the end of May 2023, a total of 251 DNA polymorphisms have been associated with athlete status, of which 128 genetic markers were positively associated with athlete status in at least two studies (41 endurance-related, 45 power-related, and 42 strength-related). The most promising genetic markers include the AMPD1 rs17602729 C, CDKN1A rs236448 A, HFE rs1799945 G, MYBPC3 rs1052373 G, NFIA-AS2 rs1572312 C, PPARA rs4253778 G, and PPARGC1A rs8192678 G alleles for endurance; ACTN3 rs1815739 C, AMPD1 rs17602729 C, CDKN1A rs236448 C, CPNE5 rs3213537 G, GALNTL6 rs558129 T, IGF2 rs680 G, IGSF3 rs699785 A, NOS3 rs2070744 T, and TRHR rs7832552 T alleles for power; and ACTN3 rs1815739 C, AR ≥21 CAG repeats, LRPPRC rs10186876 A, MMS22L rs9320823 T, PHACTR1 rs6905419 C, and PPARG rs1801282 G alleles for strength. It should be appreciated, however, that elite performance still cannot be predicted well using only genetic testing.

P-536 Common variation in the PIN1 locus increases the genetic risk to suffer from Sertoli Cell Only syndrome

Abstract Study question Are the common genetic variants located in the PIN1 region associated with human male infertility due to severe spermatogenic failure (SPGF)? Summary answer PIN1 gene polymorphisms may play a relevant role in the development of Sertoli Cell Only syndrome (SCO), the most extreme form of SPGF. What is known already PIN1 is a relevant prolyl isomerase in humans, that catalyzes cis/trans isomerization of peptide bonds. It has a central role in cell cycle progression and cancer, and it has been linked to the immune system promoting inflammation and reactive-oxygen species. Pin1 gene is highly expressed in adult mice testes, particularly in spermatogonia and Sertoli cells, and it is required to control the proliferation of spermatogonial stem cells. Additionally, it controls the integrity of the blood-testis barrier, helping to maintain the immune privilege of the testis. Nevertheless, mutations in PIN1 have not yet been described in human male infertility cases. Study design, size, duration A genetic association study was performed including samples from 715 men diagnosed with SPGF and classified as suffering from non-obstructive azoospermia (NOA, n = 505) or severe oligospermia (SO, n = 210), and 1,058 matched unaffected male controls from the Iberian Peninsula (Spain and Portugal). Allelic association on SPGF susceptibility were evaluated by testing three PIN1 single nucleotide polymorphisms (SNPs; rs2287839, rs2233678, and rs62105751), which tagged most of the common genetic variation present in this locus. Participants/materials, setting, methods Participants signed an informed written consent approved by the ethical committees of each participating center. SO and NOA were clinically defined according to the guidelines of the World Health Organization. Genomic DNA from blood samples was genotyped using TaqMan assays and statistical analyses were carried out by the means of logistic regression models. An in silico functional prioritization of the associated variants and their linked polymorphisms was also performed. Main results and the role of chance A subtype-specific genetic association with the subset of NOA patients classified as suffering from SCO was identified for the three analyzed genetic variants under the additive model (rs2287839: P = 1.94E-02, rs2233678: P = 1.94E-02, rs62105751: P = 1.94E-02). The minor alleles showed strong risk effects for this subset (rs2287839: OR = 1.85 [1.17-2.93], rs2233678: OR = 1.62 [1.11-2.36], rs62105751: OR = 1.43 [1.06-1.93]). Dependence analysis showed that all associated variants tagged the same signal. The variants underlying the identified association signal were prioritized based on their functional impact on the PIN1 locus, being rs3810166 the most likely candidate for functionality. The minor allele of such variant (G) is in linkage disequilibrium with the observed rs2287839-G risk allele and it is predicted to affect both gene expression and isoform balance of PIN1. The rs3810166 SNP likely influences the binding affinity of both HDAC2 and NRSF transcription factors, which are involved in cell cycle progression and transcription, respectively. Moreover, the tagged variants rs28802413 and rs10425775 were also predicted to alter the binding of significant transcription factors of the spermatogenic process, such as SIN3A and NANOG. Limitations, reasons for caution Although the overall statistical power of the study cohort was appropriate to detect the expected effects, the sample sizes in the subtype analyses were considerably lower, which may influence the obtained results. Further analyses including a larger SCO cohort should be performed to confirm our findings. Wider implications of the findings The obtained results shed light into the genetic contribution of common variation to male infertility, which may contribute to design a future panel of genetic markers to predict the testicular sperm extraction outcome, avoiding surgical interventions in NOA cases in which the probability of spermatozoa finding is much reduced. Trial registration number Not applicable

A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE?

Vascular malformations encompass a wide range of complex vascular lesions. Due to the extreme variability of clinical presentation, classification and their related syndromes presents a challenge. Here we describe a case of a boy presenting with Marfanoid habitus, cutaneous vascular malformations, and severe acute anemia due to ileal venous malformations. Although a panel of genetic markers for the Marfan phenotype was negative, we identified a de novo mutation in the TEK gene in the patient. This case supports expansion of the phenotypic spectrum of TEK-related vascular malformations.

Where are the beachmasters? Unexpectedly weak polygyny among southern elephant seals on a South Shetland Island

AbstractIntraspecific variation in animal mating systems can have important implications for ecological, evolutionary and demographic processes in wild populations. For example, patterns of mating can impact social structure, dispersal, effective population size and inbreeding. However, few species have been studied in sufficient detail to elucidate mating system plasticity and its dependence on ecological and demographic factors. Southern elephant seals (Mirounga leonina) have long been regarded as a textbook example of a polygynous mating system, with dominant ‘beachmaster’ males controlling harems of up to several hundred females. However, behavioural and genetic studies have uncovered appreciable geographic variation in the strength of polygyny among elephant seal populations. We, therefore, used molecular parentage analysis to investigate patterns of parentage in a small satellite colony of elephant seals at the South Shetland Islands. We hypothesised that dominant males would be able to successfully monopolise the relatively small numbers of females present in the colony, leading to relatively high levels of polygyny. A total of 424 individuals (comprising 33 adult males, 101 adult females and 290 pups) sampled over 8 years were genotyped at 20 microsatellites and reproductive success was analysed by genetically assigning parents. Paternity could only be assigned to 31 pups (10.7%), despite our panel of genetic markers being highly informative and the genotyping error rate being very low. The strength of inferred polygyny was weak in comparison to previous genetic studies of the same species, with the most successful male fathering only seven pups over the entire course of our study. Our results show that, even in a species long regarded as a model for extreme polygyny, male reproductive skew can vary substantially among populations.

Panel of genetic markers for predicting the risk of developing dry eye disease of various etiologies

Introduction. World statistics indicate an increase in patients, including young people, suffering from dry eye disease (DED). Along with exogenous factors, the development of DED depends on a genetic predisposition. Changes in the expression of genes PTPN22, TRIM21, directly or indirectly affecting the T-cell link of immunity, leads to overproduction of cytokines and, as a consequence, damage to the ocular surface.This study aimed to design a diagnostic panel of genetic markers to determine the risk for DED of various etiologies development.Materials and methods. The study included 154 patients with autoimmune diseases with and without established DED. With a diagnosis of rheumatoid arthritis (RA) n = 79 and primary Sjogren’s syndrome (PSS) n = 75. The control group consisted of 100 people without ophthalmic diseases, 31 patients with exogenous DED. In this study, we use melting curve analysis to confirm the results of the association analysis for polymorphic markers in genes.Results. The prognostic value of the predisposing genotypes of the TRIM21 gene of the markers rs915956 and rs7947461 with the risk of DED in the presence of RA (p ≤ 0.001), the marker rs4144331 at the tendency level (p ≤ 0.1) was determined. The risk of developing DES against the background of PSS is associated with the presence of the predisposing genotypes of the TRIM21 genes, the rs4144331 marker, and the PTPN22 rs33996649 marker (p ≤ 0.001). The association of polymorphic markers of the TRIM21 rs7947461 gene and the PTPN22 gene of the rs33996649 marker (p ≤ 0.01) with the risk of developing exogenous DED was established.Conclusions. The predisposing genotypes were identified and the associations of polymorphic markers of the TRIM21, PTPN22 genes were established. A diagnostic panel of genetic markers has been created to predict DED of various etiologies.

Comparison of three statistical approaches for feature selection for fine-scale genetic population assignment in four pig breeds.

Assigning animals to their corresponding breeds through breed informative single-nucleotide polymorphisms (SNPs) is required in many fields. For instance, it is used in the traceability and the authentication of meat and other livestock products. SNPs' information for several pork breeds are now accessible thanks to the availability of dense SNP chips. These SNP chips cover a large number of molecular markers distributed across the entire genome. To identify the pork breed from a sample of industrial meat, one must analyze a large panel of genetic markers depending on the SNP chip used. The analysis of such large datasets requires intensive work. This leads to the idea of creating less dense chips of breed informative markers based on a reduced number of SNPs. Therefore, the analysis of the data emanating from the genotyping of these reduced chips will require less time and effort. The objective of this study is to find the most informative SNPs for the discrimination between four pig breeds, namely Duroc, Landrace, Large White, and Pietrain. The Illumina Porcine 60 k SNP chip was used to genotype SNPs distributed all over the individuals' genomes. Firstly, we used three different statistical approaches for feature selection: (i) principal component analysis (PCA), (ii) least absolute shrinkage and selection operator (LASSO), and (iii) random forest (RF). These three approaches identified three sets of SNPs; each set corresponds to one approach. Then, we combined the results of the three methods by setting up a final panel containing the SNPs which appear on the three sets altogether. Separately, each method resulted in a panel with the corresponding most discriminating SNPs. The PCA, the LASSO, and the random forest with Boruta algorithm highlighted 28,816, 50, and 286 SNPs, respectively. The number of SNPs selected by PCA is high compared to Boruta and LASSO because PCA chooses the variables while preserving as much information about the data as possible. The only downside of LASSO regression is that among a group of correlated variables, LASSO tends to select only one variable and ignore the others regardless of their importance. Contrarily to LASSO, the Boruta algorithm considers the interdependence between SNPs and selects informative variables even if they are correlated and have the same effect. The three panels shared 23 SNPs; the distribution of the individuals according to these SNPs showed a grouping of individuals of each breed in well-defined clusters without any overlapping. The biological pathways represented by 23 breed informative SNPs resulted by the combination of PCA, LASSO, and Boruta should be explored in further analysis. The results provided by our study are promising for further applications of this method in other livestock animals.

Standardization of a SNP panel for parentage verification and identification in the domestic cat (Felissilvestriscatus).

SummaryThe domestic cat (Felis silvestris catus) is a valued companion animal throughout the world. Over 60 different cat breeds are accepted for competition by the cat fancy registries in different countries. Genetic markers, including short tandem repeats and SNPs, are available to evaluate and manage levels of inbreeding and genetic diversity, population and breed structure relationships, and individual identification for forensic and registration purposes. The International Society of Animal Genetics (ISAG) hosts the Applied Genetics in Companion Animals Workshop, which supports the standardization of genetic marker panels and genotyping for the identification of cats via comparison testing. SNP panels have been in development for many species, including the domestic cat. An ISAG approved core panel of SNPs for use in cat identification and parentage analyses is presented. SNPs (n = 121) were evaluated by different university‐based and commercial laboratories using 20 DNA samples as part of the ISAG comparison testing procedures. Different SNP genotyping technologies were examined, including DNA arrays, genotyping‐by‐sequencing and mass spectroscopy, to select a robust and efficient panel of 101 SNPs as the ISAG core panel for cats. The SNPs are distributed across all chromosomes including two on the X chromosome and an XY pseudo‐autosomal sexing marker (zinc‐finger XY; ZFXY). A population study demonstrated that the markers have an average polymorphic information content of 0.354 and a power of exclusion greater than 0.9999. The SNP panel should keep testing affordable while also allowing for the development of additional panels to monitor health, phenotypic traits, hybrid cats and highly inbred cats.

The GEnetic Syntax Score: a genetic risk assessment implementation tool grading the complexity of coronary artery disease\u2014rationale and design of the GESS study

BackgroundCoronary artery disease (CAD) remains one of the leading causes of mortality worldwide and is associated with multiple inherited and environmental risk factors. This study is designed to identify, design, and develop a panel of genetic markers that combined with clinical and angiographic information, will facilitate the creation of a personalized risk prediction algorithm (GEnetic Syntax Score—GESS). GESS score could be a reliable tool for predicting cardiovascular risk for future adverse events and for guiding therapeutic strategies.MethodsGESS (ClinicalTrials.gov Identifier: NCT03150680) is a prospective, non-interventional clinical study designed to enroll 1080 consecutive patients with no prior history of coronary revascularization procedure, who undergo scheduled or emergency coronary angiography in AHEPA, University General Hospital of Thessaloniki. Next generation sequencing (NGS) technology will be used to genotype specific single-nucleotide polymorphisms (SNPs) across the genome of study participants, which were identified as clinically relevant to CAD after extensive bioinformatic analysis of literature-based SNPs. Enrichment analyses of Gene Ontology-Molecular Function, Reactome Pathways and Disease Ontology terms were also performed to identify the top 15 statistically significant terms and pathways. Furthermore, the SYNTAX score will be calculated for the assessment of CAD severity of all patients based on their angiographic findings. All patients will be followed-up for one-year, in order to record any major adverse cardiovascular events.DiscussionA group of 228 SNPs was identified through bioinformatic and pharmacogenomic analysis to be involved in CAD through a wide range of pathways and was correlated with various laboratory and clinical parameters, along with the patients' response to clopidogrel and statin therapy. The annotation of these SNPs revealed 127 genes being affected by the presence of one or more SNPs. The first patient was enrolled in the study in February 2019 and enrollment is expected to be completed until June 2021. Hence, GESS is the first trial to date aspiring to develop a novel risk prediction algorithm, the GEnetic Syntax Score, able to identify patients at high risk for complex CAD based on their molecular signature profile and ultimately promote pharmacogenomics and precision medicine in routine clinical settings.Trial registration GESS trial registration: ClinicalTrials.gov Number: NCT03150680. Registered 12 May 2017- Prospectively registered, https://clinicaltrials.gov/ct2/show/NCT03150680.

The analysis of ancestry with small-scale forensic panels of genetic markers.

In the last 10 years, forensic genetic analysis has been extended beyond identification tests that link a suspect to crime scene evidence using standard DNA profiling, to new supplementary tests that can provide information to investigators about a suspect in the absence of a database hit or eyewitness testimony. These tests now encompass the prediction of physical appearance, ancestry and age. In this review, we give a comprehensive overview of the full range of DNA-based ancestry inference tests designed to work with forensic contact traces, when the level of DNA is often very low or highly degraded. We outline recent developments in the design of ancestry-informative marker sets, forensic assays that use capillary electrophoresis or massively parallel sequencing, and the statistical analysis frameworks that examine the test profile and compares it to reference population variation. Three casework ancestry analysis examples are described which were successfully accomplished in the authors' laboratory, where the ancestry information obtained was critical to the outcome of the DNA analyses made.

Genetic variants and risk of thyroid cancer among Iranian patients.

The definition of an exclusive panel of genetic markers is of high importance to initially detect among this review population. Therefore, we gave a summary of each main genetic marker among Iranian patients with thyroid cancer for the first time which were classified based on their cellular function. Due to the results, a significant relationship was found between SNP in codons 194, 280, and 399 (XRCC1), Allele 3434Thr (XRCC7), GC or CC genotype 31, G/C (Survivin), 399G>A (XRCC1), Tru9I (vitamin D receptor), G-D haplotype (MDM2), TT genotype,-656G/T (IL-18), TAGTT haplotype (IL-18), G allele in +49 A>G (CTLA-4), +7146G/A (PD-1.3), +7785 C/T (PD-1.5), rs1143770 (let7a-2), rs4938723 (pri-mir-34b/c) genes, and thyroid cancers. Moreover, SNP in 677C-->T (MTHFR), GG genotype Asp1312Gly (thyroglobulin), 2259C>T (Rad52), R188H, (XRCC2), T241M (XRCC3) had higher risks of thyroid cancer and lower risks were observed in-16 Ins-Pro (p53), rs3742330 (DICER1). At last, the protective effects were explored in 127 CC genotype (IL-18), rs6877842 (DROSHA). Conduct further studies on the types of DNA repair gene polymorphisms with a larger number in the thyroid cancer using modern methods such as SNP array so that these genes could be used as a biomarker in prediction, diagnosis, and treatment of thyroid cancer. This review presents for the first time a summary of important genetic markers in Iranian patients with thyroid cancer.

Characterization of Copy-Number Variations and Possible Candidate Genes in Recurrent Pregnancy Losses.

It is well established that embryonic chromosomal abnormalities (both in the number of chromosomes and the structure) account for 50% of early pregnancy losses. However, little is known regarding the potential differences in the incidence and distribution of chromosomal abnormalities between patients with sporadic abortion (SA) and recurrent pregnancy loss (RPL), let alone the role of submicroscopic copy-number variations (CNVs) in these cases. The aim of the present study was to systematically evaluate the role of embryonic chromosomal abnormalities and CNVs in the etiology of RPL compared with SA. Over a 3-year period, 1556 fresh products of conception (POCs) from miscarriage specimens were investigated using single nucleotide polymorphism array (SNP-array) and CNV sequencing (CNV-seq) in this study, along with further functional enrichment analysis. Chromosomal abnormalities were identified in 57.52% (895/1556) of all cases. Comparisons of the incidence and distributions of chromosomal abnormalities within the SA group and RPL group and within the different age groups were performed. Moreover, 346 CNVs in 173 cases were identified, including 272 duplications, 2 deletions and 72 duplications along with deletions. Duplications in 16q24.3 and 16p13.3 were significantly more frequent in RPL cases, and thereby considered to be associated with RPL. There were 213 genes and 131 signaling pathways identified as potential RPL candidate genes and signaling pathways, respectively, which were centered primarily on six functional categories. The results of the present study may improve our understanding of the etiologies of RPL and assist in the establishment of a population-based diagnostic panel of genetic markers for screening RPL amongst Chinese women.