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https://www.readbyqxmd.com/read/29245019/genetic-polymorphism-of-21-non-codis-str-loci-in-chengdu-han-population-and-its-interpopulation-analysis-between-25-populations-in-china
#1
Ye Li, Hepei Li, Guanglin He, Weibo Liang, Haibo Luo, Miao Liao, Ji Zhang, Jing Yan, Yingbi Li, Yiping Hou, Jin Wu
AGCU 21+1 STR kit contains 21 non-combined DNA index system (non-CODIS) short tandem repeats (STR) loci and a sex-determining locus amelogenin. In this study, we evaluated the genetic diversity and forensically relevant population statistics of 21 non-CODIS loci in 210 Chinese Han individuals from Chengdu city, Sichuan province, Southwest China. No significant deviations from Hardy-Weinberg equilibrium were observed within the 21 non-CODIS STR loci. The combined power of discrimination (CPD) and combined power of exclusion (CPE) were 0...
December 9, 2017: Legal Medicine
https://www.readbyqxmd.com/read/29245013/combination-cancer-therapy-can-confer-benefit-via-patient-to-patient-variability-without-drug-additivity-or-synergy
#2
Adam C Palmer, Peter K Sorger
Combination cancer therapies aim to improve the probability and magnitude of therapeutic responses and reduce the likelihood of acquired resistance in an individual patient. However, drugs are tested in clinical trials on genetically diverse patient populations. We show here that patient-to-patient variability and independent drug action are sufficient to explain the superiority of many FDA-approved drug combinations in the absence of drug synergy or additivity. This is also true for combinations tested in patient-derived tumor xenografts...
December 14, 2017: Cell
https://www.readbyqxmd.com/read/29244800/hla-dq-genetics-in-children-with-celiac-disease-a-meta-analysis-suggesting-a-two-step-genetic-screening-procedure-starting-with-hla-dq-%C3%AE-chains
#3
Annalisa De Silvestri, Cristina Capittini, Dimitri Poddighe, Chiara Valsecchi, Gianluigi Marseglia, Sara Carlotta Tagliacarne, Valeria Scotti, Chiara Rebuffi, Annamaria Pasi, Miryam Martinetti, Carmine Tinelli
OBJECTIVES: through a meta-analysis, evaluating the distribution of the predisposing HLA genotype to Celiac Disease (CD) in children and providing insights for potential widened screening strategy. STUDY DESIGN: After a systematic search on the association between HLA class II and CD in children, 46 publications were obtained and assessed for eligibility. 13 eligible studies were submitted to data extraction and analysis (10 studies case-control and 3 cohort studies)...
December 15, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29244558/loss-of-color-pigmentation-is-maintained-at-high-frequency-in-a-monkey-flower-population
#4
Alex D Twyford, Aaron M Caola, Pratibha Choudhary, Ramesh Raina, Jannice Friedman
Color polymorphisms have long been of evolutionary interest for their diverse roles, including mate choice, predator avoidance, and pollinator attraction. While color variation is often under strong selection, some taxa demonstrate unexpectedly high frequencies of presumed deleterious color forms. Here we show that a genetic variant underlying complete loss of anthocyanin pigmentation has risen to an unexpectedly high frequency of >0.2 in a natural population of the plant Mimulus guttatus. Decreased expression of MYB5 transcription factor is associated with unpigmented morphs...
January 2018: American Naturalist
https://www.readbyqxmd.com/read/29244556/seasonal-food-scarcity-prompts-long-distance-foraging-by-a-wild-social-bee
#5
Nathaniel S Pope, Shalene Jha
Foraging is an essential process for mobile animals, and its optimization serves as a foundational theory in ecology and evolution; however, drivers of foraging are rarely investigated across landscapes and seasons. Using a common bumblebee species from the western United States (Bombus vosnesenskii), we ask whether seasonal decreases in food resources prompt changes in foraging behavior and space use. We employ a unique integration of population genetic tools and spatially explicit foraging models to estimate foraging distances and rates of patch visitation for wild bumblebee colonies across three study regions and two seasons...
January 2018: American Naturalist
https://www.readbyqxmd.com/read/29244555/theoretical-approaches-in-evolutionary-ecology-environmental-feedback-as-a-unifying-perspective
#6
Sébastien Lion
Evolutionary biology and ecology have a strong theoretical underpinning, and this has fostered a variety of modeling approaches. A major challenge of this theoretical work has been to unravel the tangled feedback loop between ecology and evolution. This has prompted the development of two main classes of models. While quantitative genetics models jointly consider the ecological and evolutionary dynamics of a focal population, a separation of timescales between ecology and evolution is assumed by evolutionary game theory, adaptive dynamics, and inclusive fitness theory...
January 2018: American Naturalist
https://www.readbyqxmd.com/read/29244183/dna-damage-and-epigenetic-alteration-in-soybean-farmers-exposed-to-complex-mixture-of-pesticides
#7
Danieli Benedetti, Barbara Lopes Alderete, Claudia Telles de Souza, Johnny Ferraz Dias, Liana Niekraszewicz, Mónica Cappetta, Wilner Martínez-López, Juliana Da Silva
Exposure to pesticides can trigger genotoxic and mutagenic processes through different pathways. However, epidemiological studies are scarce, and further work is needed to find biomarkers sensitive to the health of exposed populations. Considering that there are few evaluations of soybean farmers, the aim of this study was to assess the effects of human exposure to complex mixtures of pesticides. The alkaline comet assay modified with restriction enzyme (hOGG1: human 8-oxoguanine DNA glycosylase) was used to detect oxidised guanine, and compared with the buccal micronucleus cytome assay, global methylation, haematological parameters, biochemical analyses (serum glutamic oxaloacetic transaminase, serum glutamic pyruvic transaminase, gamma-glutamyl-transferase and butyrylcholinesterase), and particle-induced X-ray emission (PIXE) for the analysis of inorganic elements...
December 13, 2017: Mutagenesis
https://www.readbyqxmd.com/read/29244009/inference-of-genetic-relatedness-between-viral-quasispecies-from-sequencing-data
#8
Olga Glebova, Sergey Knyazev, Andrew Melnyk, Alexander Artyomenko, Yury Khudyakov, Alex Zelikovsky, Pavel Skums
BACKGROUND: RNA viruses such as HCV and HIV mutate at extremely high rates, and as a result, they exist in infected hosts as populations of genetically related variants. Recent advances in sequencing technologies make possible to identify such populations at great depth. In particular, these technologies provide new opportunities for inference of relatedness between viral samples, identification of transmission clusters and sources of infection, which are crucial tasks for viral outbreaks investigations...
December 6, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29244001/transmissibility-of-intra-host-hepatitis-c-virus-variants
#9
David S Campo, June Zhang, Sumathi Ramachandran, Yury Khudyakov
BACKGROUND: Intra-host hepatitis C virus (HCV) populations are genetically heterogeneous and organized in subpopulations. With the exception of blood transfusions, transmission of HCV occurs via a small number of genetic variants, the effect of which is frequently described as a bottleneck. Stochasticity of transmission associated with the bottleneck is usually used to explain genetic differences among HCV populations identified in the source and recipient cases, which may be further exacerbated by intra-host HCV evolution and differential biological capacity of HCV variants to successfully establish a population in a new host...
December 6, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29243987/association-between-hace1-gene-polymorphisms-and-wilms-tumor-risk-in-a-chinese-population
#10
Wei Jia, Zhijian Deng, Jinhong Zhu, Wen Fu, Shibo Zhu, Li-Yu Zhang, Jinhua Hu, Fenghua Wang, Huimin Xia, Guo-Chang Liu, Jing He
Wilms' tumor is one of the most common solid tumors of childhood; however, the genetic basis underlying the majority of cases remains largely unknown. HACE1 is a putative Wilms' tumor susceptibility gene. We investigated the association between five HACE1 gene polymorphisms and Wilms' tumor susceptibility in a Chinese population consisting of 145 patients and 531 controls. We found a significant association between HACE1 rs9404576 polymorphism and decreased Wilms' tumor risk. No significant association was detected for other polymorphisms in the overall analysis...
November 26, 2017: Cancer Investigation
https://www.readbyqxmd.com/read/29243868/genetic-diversity-of-small-populations-not-always-doom-and-gloom
#11
Dylan J Fraser
Is a key theory of evolutionary and conservation biology-that loss of genetic diversity can be predicted from population size-on shaky ground? In the face of increasing human-induced species depletion and habitat fragmentation, this question and the study of genetic diversity in small populations are paramount to understanding the limits of species' responses to environmental change and to providing remedies to endangered species conservation. Few empirical studies have investigated to what degree some small populations might be buffered against losses of genetic diversity...
December 2017: Molecular Ecology
https://www.readbyqxmd.com/read/29243845/fc%C3%AE%C2%B5r1%C3%AE-gene-polymorphism-shows-association-with-high-ige-and-anti-fc%C3%AE%C2%B5r1%C3%AE-in-chronic-rhinosinusitis-with-nasal-polyposis
#12
Sajad Ahmad Dar, Gargi Rai, Mohammad Ahmed Ansari, Naseem Akhter, Neelima Gupta, Sonal Sharma, Shafiul Haque, Vishnampettai Ganapathysubramanian Ramachandran, Mohd Wahid, M Rudramurthy Shivprakash, Arunaloke Chakrabarti, Shukla Das
Despite large number of investigations, the etiology of chronic rhinosinusitis (CRS) remains unclear. Several factors are likely involved in its onset. The genetic susceptibility of IgE-responsiveness likely caused by polymorphism(s) in high affinity receptor for IgE (FcεR1α) gene can help in understanding the pathophysiology of CRS with nasal polyposis (CRSwNP). A population-based case-control association analysis was conducted to assess the risk of CRSwNP conferred by single nucleotide polymorphisms (SNPs) in FcεR1α gene in a North Indian cohort...
December 15, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29243821/improved-recovery-of-ancient-dna-from-subfossil-wood-application-to-the-world-s-oldest-late-glacial-pine-forest
#13
Bertalan Lendvay, Martin Hartmann, Sabine Brodbeck, Daniel Nievergelt, Frederick Reinig, Stefan Zoller, Laura Parducci, Felix Gugerli, Ulf Büntgen, Christoph Sperisen
Ancient DNA from historical and subfossil wood has a great potential to provide new insights into the history of tree populations. However, its extraction and analysis have not become routine, mainly because contamination of the wood with modern plant material can complicate the verification of genetic information. Here, we used sapwood tissue from 22 subfossil pines that were growing c. 13 000 yr bp in Zurich, Switzerland. We developed and evaluated protocols to eliminate surface contamination, and we tested ancient DNA authenticity based on plastid DNA metabarcoding and the assessment of post-mortem DNA damage...
December 15, 2017: New Phytologist
https://www.readbyqxmd.com/read/29243736/a-novel-missense-mutation-in-hsf4-causes-autosomal-dominant-congenital-lamellar-cataract-in-a-british-family
#14
V Berry, N Pontikos, A Moore, A C W Ionides, V Plagnol, M E Cheetham, M Michaelides
PurposeInherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of isolated autosomal-dominant lamellar cataract in a five-generation British family.MethodsWhole exome sequencing (WES) was performed on two affected individuals of the family and further validated by direct sequencing in family members.ResultsA novel missense mutation NM_001040667.2:c.190A>G;p.K64E was identified in the DNA-binding-domain of heat-shock transcription factor 4 (HSF4) and found to co-segregate with disease...
December 15, 2017: Eye
https://www.readbyqxmd.com/read/29243335/comparative-performance-of-pharmacogenetics-based-warfarin-dosing-algorithms-derived-from-caucasian-asian-and-mixed-races-in-thai-population
#15
Supatat Chumnumwat, Kong Yi, Aroonrut Lucksiri, Wichit Nosoongnoen, Busba Chindavijak, Suvatna Chulavatnatol, Ajjima Sarapakdi, Surakit Nathisuwan
AIM: This study was conducted to compare predictive accuracy of the available pharmacogenetics (PGx)-guided warfarin-dosing algorithms derived from Caucasian, Asian and mixed population to identify a suitable algorithm for Thai population. METHODS: Ten warfarin-dosing algorithms derived from different population including Caucasian, East Asian, Southeast Asian and mixed races were selected and tested with clinical and genetic data of Thai patients. Comparative performances of these algorithms were tested using mean dose error (MDE) between actual warfarin maintenance dose (AWMD) and predicted dose generated by each dosing algorithm, and percentage of ideal dose prediction (IDP)...
December 15, 2017: Cardiovascular Therapeutics
https://www.readbyqxmd.com/read/29242627/adding-loci-improves-phylogeographic-resolution-in-red-mangroves-despite-increased-missing-data-comparing-microsatellites-and-rad-seq-and-investigating-loci-filtering
#16
Richard G J Hodel, Shichao Chen, Adam C Payton, Stuart F McDaniel, Pamela Soltis, Douglas E Soltis
The widespread adoption of RAD-Seq data in phylogeography means genealogical relationships previously evaluated using relatively few genetic markers can now be addressed with thousands of loci. One challenge, however, is that RAD-Seq generates complete genotypes for only a small subset of loci or individuals. Simulations indicate that loci with missing data can produce biased estimates of key population genetic parameters, although the influence of such biases in empirical studies is not well understood. Here we compare microsatellite data (8 loci) and RAD-Seq data (six datasets ranging from 239 to 25,198 loci) from red mangroves (Rhizophora mangle) in Florida to evaluate how different levels of data filtering influence phylogeographic inferences...
December 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29242595/germline-brca-mutation-in-male-carriers-ripe-for-precision-oncology
#17
REVIEW
Ricardo Romão Nazário Leão, Aryeh Joshua Price, Robert James Hamilton
BACKGROUND: Prostate cancer (PC) is one of the known heritable cancers with individual variations attributed to genetic factors. BRCA1 and BRCA2 are tumour suppressor genes with crucial roles in repairing DNA and thereby maintaining genomic integrity. Germline BRCA mutations predispose to multiple familial tumour types including PC. METHODS: We performed a Pubmed database search along with review of reference lists from prominent articles to capture papers exploring the association between BRCA mtuations and prostate cancer risk and prognosis...
December 14, 2017: Prostate Cancer and Prostatic Diseases
https://www.readbyqxmd.com/read/29242368/lessons-from-ckd-related-genetic-association-studies-moving-forward
#18
Sophie Limou, Nicolas Vince, Afshin Parsa
Over the past decade, genetic association studies have uncovered numerous determinants of kidney function in the general, diabetic, hypertensive, CKD, ESRD, and GN-based study populations (e.g., IgA nephropathy, membranous nephropathy, FSGS). These studies have led to numerous novel and unanticipated findings, which are helping improve our understanding of factors and pathways affecting both normal and pathologic kidney function. In this review, we report on major discoveries and advances resulting from this rapidly progressing research domain...
December 14, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29242310/approaches-to-neuromodulation-for-schizophrenia
#19
REVIEW
Judith M Gault, Rachel Davis, Nicola G Cascella, Elyn R Saks, Iluminada Corripio-Collado, William S Anderson, Ann Olincy, John A Thompson, Edith Pomarol-Clotet, Akira Sawa, Zafiris J Daskalakis, Nir Lipsman, Aviva Abosch
Based on the success of deep brain stimulation (DBS) for treating movement disorders, there is growing interest in using DBS to treat schizophrenia (SZ). We review the unmet needs of patients with SZ and the scientific rationale behind the DBS targets proposed in the literature in order to guide future development of DBS to treat this vulnerable patient population. SZ remains a devastating disorder despite treatment. Relapse, untreated psychosis, intolerable side effects and the lack of effective treatment for negative and cognitive symptoms contribute to poor outcome...
December 14, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29242287/the-local-co-existence-pattern-of-selfing-genotypes-in-caenorhabditis-elegans-natural-metapopulations
#20
Aurélien Richaud, Gaotian Zhang, Daehan Lee, Junho Lee, Marie-Anne Félix
To study the interplay of rare outcrossing and metapopulation structure, we focus on the nematode Caenorhabditis elegans Its remarkably low outcrossing rate is at the extreme end of the spectrum for facultative selfing organisms. At the demographic level, C. elegans natural populations undergo boom and bust dynamics on ephemeral resources, the dauer diapause larva acting as the dispersal form. Here we investigate the small-scale genetic structure of C. elegans populations in two localities over several years, using 2b-RAD (Restriction-Associated DNA) sequencing of nearly a thousand individuals...
December 13, 2017: Genetics
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