• The frequencies exhibit considerable variation in different geographic locations, reflecting the underlying genetic and ethnic diversity of human populations [3]. (who.int)
  • Our findings demonstrate how the local environment directly affects disease risk phenotypes and that genetic variation, including less common variants, can modulate individual's response to environmental challenges. (nature.com)
  • The variants responsible for GNE myopathy reduce the activity of the enzyme produced from the GNE gene, which decreases the production of sialic acid. (medlineplus.gov)
  • The rates of spontaneous gene duplication and deletion are extraordinarily high and speak to the enormous potential of these structural variants for generating new adaptive variability [ 5 - 10 ]. (biomedcentral.com)
  • In this study, we seek to determine if gene copy-number changes are a common class of genetic change during adaptation and what role, if any, natural selection plays in the maintenance and frequency increase of copy-number variants (CNVs henceforth) in experimental populations. (biomedcentral.com)
  • 11 heterozygous pathogenic/ likely pathogenic variants in eight PID genes were identified in 11 infants. (researchsquare.com)
  • The results suggest that using GS may be a suitable method for screening newborns for variants in a large number of disease associated genes. (researchsquare.com)
  • The Kaingang population was polymorphic for all variants investigated. (ufrgs.br)
  • The variants in SP110, PTPN22, TNF-α, IL-6, IL12Rβ1, IL-10, IFN-γ, TNF-αR1 and IL-12α genes showed minor allele frequencies lower than 0.1, which demonstrates that they are not polymorphic in these populations. (ufrgs.br)
  • This work has uncovered about 3.4 million unique gene variants that had never before been described, greatly expanding our knowledge of human genetic variation and its implications for health and disease. (nih.gov)
  • The researchers also found more than 100 regions of the genome where the pattern of genetic variation was suggestive of underlying variants that were evolutionarily favored at some time in the past. (nih.gov)
  • Interestingly, those selected regions were found to contain genes associated with viral immunity, DNA repair, reproduction, and metabolism, or occurred close to variants that have been associated with conditions such as uterine fibroids and chronic kidney disease. (nih.gov)
  • Due to the random assignment of genes at conception, genetic variants predate disease development and are not influenced by environmental risk factors. (frontiersin.org)
  • The Dupuis lab develops statistical approaches to identify specific genes or genetic variants that influence complex phenotypes through their associated quantitative traits, which are traits that can be measured numerically, such as height or blood pressure in humans, and seed size or oil content in plants. (bu.edu)
  • This project involves developing statistical analyses which combine genome wide association results with prior information from "omics" studies (gene variant functionality, gene expression, methylation, metabolomic data, and proteomic data) to determine regions with common or rare genetic variants that are potentially causally associated with traits of interest. (bu.edu)
  • One approach for investigating the heritability of personality lies in identifying which genes underlie specific personality traits so scientists can then determine how the frequencies of specific variants of personality-related genes change in both space and time as well as in relation to changing environmental influences. (scienceblogs.com)
  • lt;p align="justify">As is true for most genes, there are variants -- known as polymorphisms -- of DRD4. (scienceblogs.com)
  • The identification of genetic variants related to blood lipid levels within a large, population-based and nationally representative study might lead to a better understanding of the genetic contribution to serum lipid levels in the major race/ethnic groups in the U.S. population. (cdc.gov)
  • We report the significant associations of blood lipids with variants and haplotypes in APOE , ITGB3, NOS3 , and PON1 in the three main race/ethnic groups in the U.S. population using a large, nationally representative and population-based sample survey. (cdc.gov)
  • This is the first Greek study describing mutational alleles (HBB and HBA1/HBA2 gene variants) in 217 patients with hemoglobinopathies of two large centers in Greece (Larissa and Athens) and associating particular genotypes or gene variants with clinical manifestations (transfusion frequency, complications). (bvsalud.org)
  • Our results are in accordance with previous national studies with limited variations, due to regional prevalence of specific gene variants, as expected. (bvsalud.org)
  • The type and prevalence of beta and alpha globin gene variants differ significantly among countries. (bvsalud.org)
  • We also confirm the well-known observation of many studies that in our beta thalassemic or SCD patients, co-inheritance of variants in the alpha globin genes, leading to absence or reduction of alpha globin synthesis were associated with milder clinical course, whereas the inheritance of additional alpha genes (triplication) led to a more severe clinical phenotype. (bvsalud.org)
  • KEY MESSAGES: â ¢ This is the first Greek study, fully molecularly defining the beta and alpha mutational alleles in 217 patients with hemoglobinopathies of two large centers in Greece and correlating particular genotypes or gene variants with clinical manifestations (transfusion frequency, complications). (bvsalud.org)
  • â ¢ In the beta thalassemic or SCD patients of our cohort, co-inheritance of variants in the alpha globin genes, leading to absence or reduction of alpha globin synthesis were associated with milder clinical course (confirmation of a well-known previous observation). (bvsalud.org)
  • Variants in blood pressure genes and the risk of Accardi R, Rubino R, Scalise M et col . (2011). (who.int)
  • Research in bacterial population genetics has increased in the last 10 years. (cdc.gov)
  • Hence, bacterial population genetic research was originated by population geneticists interested in bacteria, rather than bacterial geneticists or medical microbiologists interested in population genetics ( 1 , 2 ). (cdc.gov)
  • However, the reader should recognize that bacterial population genetics is a discipline separate and distinct from the study of the molecular epidemiology of infectious agents. (cdc.gov)
  • Because serotype analysis of relatively few surface structures does not provide robust data for estimating overall levels of chromosomal diversity and relationships among strains, the primary research tool used to examine the population genetics of emerging bacterial pathogens has been multilocus enzyme electrophoresis ( 10 , 11 ). (cdc.gov)
  • His blend of anthropology and genetics led to a new field he called genetic geography, in which he followed the spread of genetic variations to track how humans populated the world. (stanford.edu)
  • But when several genes are telling the same story, you're more confident that you've got the history right," said Cavalli-Sforza's longtime Stanford collaborator Peter Underhill, PhD, senior research scientist in genetics, in Stanford Medicine magazine. (stanford.edu)
  • Other questions will verify the general knowledge and the logical and methodological tools acquired in the fields of Molecular Genetics, Genetics of the Microorganisms and Population Genetics. (uninsubria.eu)
  • In the Course of Genetics, the student will learn the genetic mechanisms at the bases of Mendelian genetics, the main molecular aspects of the Central Dogma, how genes work, with emphasis on the relationship between the type of mutation and the resulting phenotype, and last the models for the study of evolutionary processes. (uninsubria.eu)
  • In particular, at the end of the course, the student will be able to identify the most common models for the transmission of characters, to make educated guesses about the outcome of a given cross, to use basic models concerning the study of population genetics. (uninsubria.eu)
  • The learning outcomes, in terms of "Knowledge and know" are: achievement of informed judgment, adequate expertise and communication skills in relation to the genetic mechanisms at the bases of Mendelian genetics, molecular aspects of DNA replication, of transcription and translation, gene function, evolutionary processes and the theoretical and practical bases of recombinant DNA technology. (uninsubria.eu)
  • From 1900, when Landsteiner first described the ABO blood groups, to the present, the methods used to characterize the genetics of human populations have undergone a remarkable development. (ox.ac.uk)
  • Population genetics - sources of genetic variation, gene pools and allele frequencies, Hardy-Weinberg equation, genetic drift, gene flow and adaptive evolution. (eduncle.com)
  • In the end, the group collected samples from more than 50 populations that are now stored at the Center for the Study of Human Polymorphisms in Paris. (stanford.edu)
  • The eNOS gene has several single nucleotide polymorphisms reported, one of which is G894T. (scirp.org)
  • Association between single nucleotide polymorphisms in AKT1 and the risk of prostate cancer in the Chinese Han population. (geneticsmr.com)
  • Association between interleukin-4 polymorphisms and risk of pre-eclampsia in a population of Chinese pregnant women. (geneticsmr.com)
  • Single-nucleotide polymorphisms (SNPs) can alter gene function and protein expression. (geneticsmr.com)
  • In this study, we investigated the role of the Leu53Leu, Arg213Gly, and Ala40Thr polymorphisms in extracellular superoxide dismutase (EC-SOD) gene in the development of T2DM in a Chinese population. (geneticsmr.com)
  • Association between -174G/C and -572G/C interleukin 6 gene polymorphisms and severe radiographic damage to the hands of Mexican patients with rheumatoid arthritis: a preliminary report. (geneticsmr.com)
  • Several interleukin 6 gene (IL6) polymorphisms are implicated in susceptibility to rheumatoid arthritis (RA). (geneticsmr.com)
  • The study of genetic polymorphisms has been essential to the analysis of the relationships between human populations. (ox.ac.uk)
  • Methods: This case-control study conducted in Srinagar, Kashmir (North India) between 2013 and 2015 was designed to evaluate risk induced due to MTH-FR 677C>T gene polymorphisms to contribute in susceptibility for migraine in Kashmir population (North India). (scirp.org)
  • Using data from the second phase (1991-1994) of the Third National Health and Nutrition Examination Survey (NHANES III), we examined associations between 22 polymorphisms in 13 candidate genes and four serum lipids: high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and triglycerides (TG). (cdc.gov)
  • Recent candidate gene studies [ 13 - 16 ], as well as genome-wide association studies [ 17 - 25 ], have identified polymorphisms that account for a portion of the variation in blood lipid levels. (cdc.gov)
  • Certain common changes (polymorphisms) in the CYP2C9 and VKORC1 genes account for most of the variation in warfarin metabolism due to genetic factors. (medlineplus.gov)
  • Polymorphisms in other genes, some of which have not been identified, have a smaller effect on warfarin metabolism. (medlineplus.gov)
  • The polymorphisms associated with warfarin sensitivity often differ by population and ethnic background. (medlineplus.gov)
  • Several CYP2C9 gene polymorphisms decrease the activity of the CYP2C9 enzyme and slow the body's metabolism of warfarin. (medlineplus.gov)
  • Certain VKORC1 gene polymorphisms decrease the amount of functional VKORC1 enzyme available to help activate clotting proteins. (medlineplus.gov)
  • Additionally, people who have more than one polymorphism in a gene or polymorphisms in multiple genes associated with warfarin sensitivity have a lower tolerance for the drug's effect or take even longer to clear the drug from their body. (medlineplus.gov)
  • Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. (cdc.gov)
  • I explore problems such as how frequency-dependent processes within and between species maintains diversity, whether genetic polymorphisms or species in ecological communities. (lu.se)
  • Genes and alleles, phenotype and genotype. (uninsubria.eu)
  • We compared the genotype frequencies of 45 SNPs in 30 cytokine and chemokine genes in two healthy Chinese populations and one Caucasian population. (johnshopkins.edu)
  • In our series, we did not notice any significant difference in genotype or allele frequency between diabetics with and without degenerative complications. (scirp.org)
  • Using whole-genome quantitative gene expression as a model, here we study how the genetic architecture of regulatory variation in gene expression changed in a population of fully sequenced inbred Drosophila melanogaster strains when flies developed in different environments (25 °C and 18 °C). We find a substantial fraction of the transcriptome exhibited genotype by environment interaction, implicating environmentally plastic genetic architecture of gene expression. (nature.com)
  • Finally, although genotype by environment interaction in gene expression could potentially disrupt genetic networks, the co-expression networks are highly conserved across environments. (nature.com)
  • Change in genetic variation across environments is one of the many forms of genotype by environment interaction (G×E). G×E can be interpreted equivalently either as variable genetic architecture across environments or as variable environmental plasticity across genotypes, depending on what factor is chosen as the context. (nature.com)
  • In cases in whom the genotype and phenotype did not correlate, factors like the function or modification of possible regulatory genes or additional nutritional-environmental effects should be investigated. (bvsalud.org)
  • For example, a population with many different alleles at a locus may be said to have a lot of genetic variation at that locus. (berkeley.edu)
  • Genetic variation is essential for natural selection to operate since natural selection can only increase or decrease frequency of alleles already in the population. (berkeley.edu)
  • also called allele frequency) Proportion of genes/alleles in a population that are of a particular type. (berkeley.edu)
  • Gene conversion can be biased, tending to favor some alleles over others. (berkeley.edu)
  • Many of these clones are characterized by unique combinations of virulence genes or alleles of virulence genes. (cdc.gov)
  • Moreover, the distinct clones are frequently characterized by unique combinations of virulence genes or alleles of virulence genes. (cdc.gov)
  • It is well known that the gene which determines blood group in humans has three different alleles, A, B, C and that there are four groups of blood, A, B, AB and O. The aim is to investigate the transmission of blood groups from parents to their offspring. (scialert.net)
  • There are three alleles or versions of the blood type gene: A, B and C. Since, humans are diploid organisms (meaning we carry a double set of chromosomes-one from each parent), blood types are determined by two alleles ( Table 1 ). (scialert.net)
  • Natural selection quickly increases in frequency any alleles which confer protection against the exogenous stress. (discovermagazine.com)
  • According to the numbers and types, KIR haplotypes are broadly classified into two groups: group A haplotypes have a fixed KIR gene ( 2DL1 , 2DL3 - 4 , 3DL1 - 3 , 2DS4 , 2DP1 and 3DP1 ), in contrast, group B haplotypes have variations in genetic content which is comprised of several genes and alleles that are not found in A haplotypes. (biomedcentral.com)
  • Database comparisons of the NAT2 minor allele frequencies support that Romanians belong to Caucasians and Kyrgyz are in between Caucasians and East Asians. (aacrjournals.org)
  • After attributing a regional and/or continental ancestry to each individual using genome-wide polymorphism data, we are able to capture the effect of different environmental exposures on gene expression and health-related traits, while simultaneously controlling for genetic relatedness and migration. (nature.com)
  • In this work we proposed to study the role of genetic polymorphism of the eNOS G894T gene in the development of diabetes on the one hand and of these degenerative complications other. (scirp.org)
  • For each patient and control we measured lipid parameters, CRP-us and sought the G894T polymorphism of eNOS gene by PCR-RFLP. (scirp.org)
  • Conclusion: The G894T polymorphism of eNOS gene appears to be a risk factor of T2DM. (scirp.org)
  • Secondly, of AZFb region showing single nucleotide gene polymorphism rs2524543, G→T and rs2563389, T→ G of PCDH11Y gene in homozygous condition. (journalcra.com)
  • Conclusions: We conclude that MTHFR gene C677T polymorphism has no role in predisposition to the migraine in our population and cannot serve as a predictive factor for the risk of migraine. (scirp.org)
  • As part of a project on environmental disasters in minority populations, this study aimed to evaluate differences in the sequence of N-acetyltransferase 2 ( NAT2 ) as a metabolic susceptibility gene in yet unexplored ethnicities. (aacrjournals.org)
  • Studies that investigated native populations' susceptibility to infectious diseases showed that they have a predominance of Th2 immune response pattern. (ufrgs.br)
  • Studying mutations that occurred in West African populations provided extra insight into the underlying biology and led to a new class of drugs that benefit people of all races. (wypr.org)
  • Gene mutations: their rate and their molecular basis. (uninsubria.eu)
  • In a population of genetically diverse individuals, the extent of genetic variation of a phenotype measures the overall sensitivity of individuals to mutations segregating in the population. (nature.com)
  • 3) also if #1,2 are ok, 130 mutations fixed in the human population in each generation is another highly debatable issue. (blogspot.com)
  • Hence, curiosity has been developed further to identify "new mutations" based on Next Gen Sequencing, identifies USP9Y gene of AZFa region showing non-frame shift mutation (insertion of C→G/C→A) at region exon42:c.6996_6997 insCGA in heterozygous condition. (journalcra.com)
  • Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population. (cdc.gov)
  • Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
  • Offspring blood type is established by specific genes inherited from his parents. (scialert.net)
  • While changes in specific genes, particularly CYP2C9 and VKORC1 , affect how the body reacts to warfarin, many other factors, including sex, age, weight, diet, and other medications, also play a role in the body's interaction with this drug. (medlineplus.gov)
  • At one extreme are Mendelian diseases, where one gene variant essentially guarantees that you'll have that disease, regardless of your genetic background. (wypr.org)
  • which means both copies of the gene in each cell must have a variant to cause the disorder. (medlineplus.gov)
  • All 321 newborns carried at least one variant at the five DPGW recommended PGx genes. (researchsquare.com)
  • That's important because medical geneticists often include information about frequency in deciding whether a gene variant is a likely cause of rare disease. (nih.gov)
  • Subsequently, significant work has been done on Indian genomes but not much variant data from the Indian population has been added to the human genome variant database[ 2 - 7 ]. (ijpsonline.com)
  • The reference Human Genome and related variant databases need to be enriched with data from underrepresented populations. (ijpsonline.com)
  • Most annotations are related to variant frequencies in different populations. (lu.se)
  • lt;p align="justify" class="lead">Research suggests that personality variations are heritable in humans and other animal species, and there are many hypotheses as to why differences in personality exist and are maintained. (scienceblogs.com)
  • lt;p align="justify">For example, in humans, the best-studied "personality gene" is the dopamine receptor D4 (DRD4) gene, which is involved in motivation, pleasure, cognition, memory, and learning. (scienceblogs.com)
  • Allelic frequencies of a (CCTTT)(n) pentanucleotide repeat in the NOS2A promoter region were determined in a total of 1393 unrelated individuals from five specific population groups in four continents: Africa, Europe, Asia, and the Caribbean. (ox.ac.uk)
  • The distribution of these 2 blood groups has been repeatedly investigated in various populations all over the world during the last half-century. (who.int)
  • The distribution pattern of the ABO blood antigen varies by the prevalence type among different populations in the world. (hindawi.com)
  • The Native Americans have a higher prevalence of infectious diseases than non-native populations living in the same environment. (ufrgs.br)
  • Frequencies of the carrier state determine the prevalence of sickle-cell anaemia at birth. (who.int)
  • For example, in Nigeria, by far the most populous country in the subregion, 24% of the population are carriers of the mutant gene and the prevalence of sickle-cell anaemia is about 20 per 1000 births. (who.int)
  • It is also a description of the prevalence of hemoglobinopathies in the Greek population. (bvsalud.org)
  • In Finland, 1-2% of the general population are carriers, and a total of 183 cases have been diagnosed, with a prevalence of 1 per 30,000 population. (medscape.com)
  • Although still used in general contexts, race has often been replaced by less ambiguous and/or loaded terms: populations, people(s), ethnic groups, or communities, depending on context. (wikipedia.org)
  • We found pronounced ethnic differences in NAT2 genotypes with yet unknown effect on the health risks for environmental or occupational exposures in minority populations. (aacrjournals.org)
  • But the authors of this analysis argue that inference can be faulty when comparing markers across different ethnic populations for two reasons. (wypr.org)
  • We analyzed the distribution of KIR genes in the Tibetan ethnic minority of Lhasa city, the Uyghur and Kazakh ethnic minorities of Urumqi city populations in China. (biomedcentral.com)
  • The study showed that profile of KIR genotypes in three ethnic minority populations in China displayed ethnic diversity. (biomedcentral.com)
  • Univariate and multivariable linear regression and within-gene haplotype trend regression were used to test for genetic associations assuming an additive mode of inheritance for each of the three major race/ethnic groups in the United States (non-Hispanic white, non-Hispanic black, and Mexican American). (cdc.gov)
  • Inconsistencies might be caused by differences in study design, study populations (geographic and ethnic background), statistical methods and power, allele frequencies, and gene-environment interactions. (cdc.gov)
  • To assess genetic variation among racial and ethnic groups in the U.S. population, we need genetic information from a large, well-designed, and population-based U.S. survey, such as the Third National Health and Nutrition Examination Survey (NHANES III) that includes the three major race/ethnic groups. (cdc.gov)
  • Multiple duplications and deletions rose to intermediate or high frequencies in independent populations. (biomedcentral.com)
  • Duplications that reached high frequencies in these adapting populations were significantly larger in span. (biomedcentral.com)
  • This distribution reflects the fact that sickle-cell trait confers a survival advantage against malaria and that selection pressure due to malaria has resulted in high frequencies of the mutant gene especially in areas of high malarial transmission. (who.int)
  • To home in on disease-causing genes, she looks for markers that keep popping up in people with the disease. (wypr.org)
  • Tishkoff says that if we'd only considered European variation, we'd have missed this example of how disease-causing genes can also be beneficial in some environments. (wypr.org)
  • We have previously established that the spontaneous, genome-wide rate of gene duplication in C. elegans is two orders of magnitude higher than the point mutation rate [ 8 ]. (biomedcentral.com)
  • Sickle-cell disease one of the classical illustrations of heterozygote advantage, whereby those who carry one copy of the mutation on the gene have increased fitness vis-a-vis those who carry two normal copies of the gene. (discovermagazine.com)
  • The effects of mutation, gene flow, selection and genetic drift on the gene pool. (uninsubria.eu)
  • The rationale behind the present study to understand the genetic basis of male infertility, to identify the "novel gene mutation" and also asses the frequency (%) of microdeletion of Y-chromosome i.e. deletion of AZF regions interfare during spermatogenesis. (journalcra.com)
  • Results: Mutational spectra include the individual variations of frequency of AZF gene mutation as a factor responsible for male infertility in eastern part of the country. (journalcra.com)
  • NGS play a significant role to explore the involvement of de novo mutation of USP9Y and PCDH11Y gene mutation resulting changes in protamines. (journalcra.com)
  • Mutation analysis of UGT1A1 gene in patients with unconjugated hyperbilirubinemia]. (cdc.gov)
  • A family study of the compound heterozygous mutation of the UGT1A1 gene causing Crigler-Najjar syndrome type II]. (cdc.gov)
  • This affected the custom scripts for calculating mutation frequencies. (lu.se)
  • This was solved by matching ID+GENE from the VCF to ID+GENE in the sample mutation table. (lu.se)
  • Misrepresenting anti-racialism as the position that "all human populations are identical" or there are "no differences between populations" is a common tactic among racialists. (rationalwiki.org)
  • Selection and genetic drift can create genetic differences between populations. (johnshopkins.edu)
  • Historical race concepts have included a wide variety of schemes to divide local or worldwide populations into races and sub-races. (wikipedia.org)
  • To further characterize common genetic variation in worldwide populations at the IL4 locus, we genotyped 9 SNPs at the IL4 gene in the Human Diversity Panel's (N=1056) individuals from 52 world geographic regions. (johnshopkins.edu)
  • In this paper, we show that Haldane's arguments for the accumulation of reproductive costs over multiple loci are valid only for a clonally reproducing population of asexual genotypes. (mcmaster.ca)
  • Although the majority of expression quantitative trait loci (eQTLs) for the gene expression traits in the two environments are shared and have similar effects, analysis of the environment-specific eQTLs reveals enrichment of binding sites for two transcription factors. (nature.com)
  • Up to now, 16 KIR gene loci have been identified, including two pseudogenes (KIR 2DP1 and 3DP1 ). (biomedcentral.com)
  • There are many genes associated with the Th0 differentiation in Th1 or Th2. (ufrgs.br)
  • Inbreeding, "F statistics" and differentiation among populations. (uninsubria.eu)
  • Several SNPs in IL4 had substantial genetic differentiation between the Chinese and Caucasian populations (F ST ∼0.40), and displayed a strikingly different haplotype distribution. (johnshopkins.edu)
  • These results suggest that there is substantial genetic diversity in immune genes and exploration of SNP associations with immune-related diseases that vary in incidence across these two populations may be warranted. (johnshopkins.edu)
  • â ¢ The inheritance of additional alpha genes (triplication) led to a more severe clinical phenotype (confirmation of a well known previous observation). (bvsalud.org)
  • Drawing from this founding population of individuals with largely French ancestry, we selected 1007 individuals to determine mechanisms by which genomes, the environment, and their interactions contribute to phenotypic variation. (nature.com)
  • Students will help develop tools and workflows to compile annotated libraries of genes and genomes, curate functional associations between genes and microbes in metabolism, and link microbial abundance to host gene/pathway expression and other outcomes. (bu.edu)
  • We observed low haplotype diversity, yet strikingly different haplotype frequencies between non-African populations, which may indicate different selective pressures on the IL4 gene in different parts of the world. (johnshopkins.edu)
  • Although comprehensive, unambiguous understanding of the host and parasite factors mediating these processes is not available for any infectious agent, population genetic research in the last 10 years has provided noteworthy new information about the bacterial side of the equation. (cdc.gov)
  • Survey of the allelic frequency of a NOS2A promoter microsatellite in human populations: assessment of the NOS2A gene and predisposition to infectious disease. (ox.ac.uk)
  • The repeat variation may have implications for the selective pressure of malaria or other infectious diseases that may operate at the NOS2 locus. (ox.ac.uk)
  • Consequently, any adaptive matching between local environments (e.g., prey sizes) and snake phenotypes (e.g., body sizes and relative jaw sizes) must be achieved via phenotypic plasticity rather than spatial heterogeneity in gene frequencies. (datadryad.org)
  • In addition to environmental factors, phenotypes can also respond to genetic perturbations in a plastic or homeostatic manner, which characterizes the potential of an organism to express phenotypes when genes mutate. (nature.com)
  • Gene-environment interactions are an example of phenotypic plasticity . (berkeley.edu)
  • Lastly, all of these factors can be complicated by environmental variation with phenotypic plasticity. (biomedcentral.com)
  • Strong spatial divergence in morphology among snake colonies, despite genetic homogeneity, supports the idea that phenotypic plasticity can facilitate speciation by creating multiple phenotypically distinct sub-populations shaped by their environment. (datadryad.org)
  • In addition, I am in interested in the role of phenotypic plasticity - including learning - in the early stages of divergence and in population persistence and in evolutionary rescue vs. extinction by natural or sexual selection. (lu.se)
  • Gene copy-number variation (CNVs), which provides the raw material for the evolution of novel genes, is widespread in natural populations. (biomedcentral.com)
  • Gene and genome duplications are the primary source of new genes and have played a pivotal role in the evolution of genomic and organismal complexity [ 1 - 4 ]. (biomedcentral.com)
  • The ABO blood group antigens appear to have been important throughout our evolution because the frequencies of different ABO blood types vary among different populations, suggesting that a particular blood type conferred a selection advantage. (scialert.net)
  • Over the long term one assumes that 'better solutions' will emerge which do not have so high a fitness drag, perhaps through the evolution of modifier genes which mask the deleterious outcomes of the initial mutant. (discovermagazine.com)
  • While it's not possible to study the DNA of these vanished original human populations, it is possible to study the genetic material of today's African peoples to learn more about the human genome and its evolution over time. (nih.gov)
  • G×E has important implications in quantitative trait variation and evolution. (nature.com)
  • To avert the threat of resurgent and new microbial diseases, it is critical to gain insight into the molecular mechanisms contributing to temporal variation in disease frequency and severity. (cdc.gov)
  • 61 Mendelian Diseases, 151 Primary Immunodeficiency Diseases(PID) and 5 DPWG recommeded Essential pharmacogenetic(PGx) genes were analyzed. (researchsquare.com)
  • It could be valuable for enriching the ethnical information resources for KIR gene, as well as facilitating further research on KIR-related diseases. (biomedcentral.com)
  • After all, populations spatially between northern Germany and Ireland, the Brythonic Celts, are presumably going to be genetically between these two populations as well. (discovermagazine.com)
  • In other words, even if the carrying capacity of the United States is as high as 600 million or more, if that population figure is ever reached, some portion will be the descendants of genetically alien immigrants. (amren.com)
  • He found that people from the same population are as genetically diverse as people from two different groups, essentially showing that at the genetic level, there is no such thing as race. (stanford.edu)
  • As technology became available to survey variations at the genetic level, Cavalli-Sforza began examining genetic changes on the Y chromosome in populations around the world. (stanford.edu)
  • However, transmission of blood group AB in a family as if by a single chromosome or allele, instead of by two separate chromosomes or genes were reported and this led to the discovery of a very rare blood group called cis-AB. (scialert.net)
  • Variations in the organisation of the genome: changes of chromosome number and the effects of polyploidy. (uninsubria.eu)
  • The apolipoprotein E (APOE) gene is located on chromosome 19 and encodes a glycoprotein that is 299 amino acids long. (dovepress.com)
  • KIR genes are located on human chromosome 19q13.4. (biomedcentral.com)
  • This gene, which codes for a sulfate transporter protein, has been mapped to distal end of chromosome bands 5q31-q34. (medscape.com)
  • Different methods for identification of mutated genes, including Targeted Region Sequencing (TRS), ES and GS, is currently standard procedure in newborn children with a suspected disease. (researchsquare.com)
  • I combine classical population biological studies in nature with field and laboratory experiments, quantitative genetic approaches, measurements of selection and phylogenetic comparative methods. (lu.se)
  • The researchers argue this lack of diversity in genomic studies harms our scientific understanding of the genetic underpinnings of disease in all populations and exacerbates health care inequities. (wypr.org)
  • In an attempt to extend his genetic analysis of people, Cavalli-Sforza began the Human Genome Diversity Project to gather and store genetic samples from populations around the world. (stanford.edu)
  • For example, the carrying capacity of the United States is probably significantly greater than its current population. (amren.com)
  • The mutated genotypes of GT eNOS gene was significantly more frequent in diabetic patients. (scirp.org)
  • Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. (medlineplus.gov)
  • Continued new insights into host-parasite interactions at the molecular level will be achieved by combining clonal analysis of bacterial pathogens with large-scale comparative sequencing of virulence genes. (cdc.gov)
  • We used an integrative approach to comprehensively assess the interactions between 1.6 million data points, encompassing a range of environmental exposures, health, and gene expression levels, coupled with whole-genome genetic variation. (nature.com)
  • Further, in order to capture gene-by-environment interactions through eQTL analyses, we combine whole-transcriptome RNA-Sequencing profiles with whole-genome genotyping and extensive fine-scale environmental exposure data. (nature.com)
  • Complex interactions between genes and environmental factors form the clinical manifestations. (bvsalud.org)
  • Air pollution impacts gene expression and pathways affecting cardio-metabolic and respiratory traits, when controlling for genetic ancestry. (nature.com)
  • In contrast, natural selection for increased gene expression may represent an important mechanism by which duplicate gene copies are maintained in populations [ 14 ]. (biomedcentral.com)
  • Genetic variance in expression increases at 18 °C relative to 25 °C for most genes that have a change in genetic variance. (nature.com)
  • Genes with higher network connectivity are under stronger stabilizing selection, suggesting that stabilizing selection on expression plays an important role in promoting network robustness. (nature.com)
  • This project will center on applying nonlinear causal inference to identify interaction between scales of complexity in natural systems (e.g. single fish populations and ecosystem functioning or single cell expression and organism physiology). (bu.edu)
  • Options are available to focus on applied data study of neuronal gene expression, aquatic food-webs, or marine fishery management. (bu.edu)
  • Regulation of gene expression including operons bacteria and differential gene expression in multicellular eukaryotes. (eduncle.com)
  • The blocks can vary in size, but in general if a marker is associated with a disease, geneticists assume the disease-causing gene is in the same block. (wypr.org)
  • These individuals were carefully selected to provide broad coverage of the diverse landscape of African genomic variation. (nih.gov)
  • For example, adaptation to novel or resource-limited environments in laboratory populations frequently involves segmental duplications [ 21 - 24 ]. (biomedcentral.com)
  • The dynamics of genetic variation (variance across different genotypes) and environmental variation (variance across different environments) may be controlled by different mechanisms. (nature.com)
  • lt;p align="justify">But association studies such as these rarely show consistent correlations between genes and behavior across populations and environments. (scienceblogs.com)
  • Long term changes in morphological variation provide a link to exploring functional relationships between taxa and their environment and have implications for understanding ecosystem attributes, community assembly patterns, and conservation. (biomedcentral.com)
  • Not only are they likely to have had some common ancestors, but there is going to be a dialect continuum across much of this cultural zone, facilitating continuous gene flow. (discovermagazine.com)
  • 15 ] identified increasingly fusiform body shapes of Neotropical fishes in main channel habitats compared to lower flow lagoon habitats coinciding with variation in flow conditions. (biomedcentral.com)
  • I also strive to understand how natural and sexual selection interact and affect population divergence, reproductive isolation and ultimately speciation and biodiversity. (lu.se)
  • Race is not an accurate or productive way to describe human biological variation. (rationalwiki.org)
  • Essentially, racialism argues that human populations are substantially different from each other to a degree which necessitates biological classification similar to or below the species level. (rationalwiki.org)
  • :103 Only in 1962 was the idea first proposed that human variation is continuous. (rationalwiki.org)
  • there is human population structure. (rationalwiki.org)
  • Luca was one of the first scientists to use genetic information to understand the relationships between different human populations at the level of the DNA," said Marcus Feldman , PhD, professor of biology at Stanford. (stanford.edu)
  • From that, he devised the first of his many maps depicting human variation across the globe. (stanford.edu)
  • Reviewing Cavalli-Sforza's 2000 book Genes, Peoples, and Languages in The New York Review of Books , Jared Diamond praised the Stanford researcher for "demolishing scientists' attempts to classify human populations into races in the same way that they classify birds and other species into races. (stanford.edu)
  • Although Cavalli-Sforza and others saw the project as a way to safeguard DNA from dwindling populations and to learn about human history, others saw it differently. (stanford.edu)
  • Sixty-two of those chromosomal locations weren't previously known to be under such strong natural selection in human populations. (nih.gov)
  • The researchers used the data to help gain insight into past migrations of human populations. (nih.gov)
  • Local of human populations [ 3 ]. (who.int)
  • to understand the human migration waves and admixing during past 70 000 y which now make up the Indian population. (ijpsonline.com)
  • The contemporary Indian population is an admixture of several waves of human migration from various directions, which is believed to have been segregated into various communities over the past 2000 y or so[ 2 ]. (ijpsonline.com)
  • In this context, we have recently reported a complete sequence analysis of a male from the Western part of The contemporary Indian population is an admixture of several waves of human migration from various directions, which is believed to have been segregated into various communities over the past 2000 y or so[ 2 ]. (ijpsonline.com)
  • Genetic characterization of human populations: from ABO to a genetic map of the British people. (ox.ac.uk)
  • Concomitantly, our understanding of the history and spread of human populations across the earth has become much more detailed. (ox.ac.uk)
  • We investigated whether CNVs constitute a common mechanism of genetic change during adaptation in experimental Caenorhabditis elegans populations. (biomedcentral.com)
  • First, the results demonstrate that adaptation based on multiple genes-such as selection acting on the standing genetic variation-does not entail a huge reproductive cost as suggested by Haldane, provided of course that the population is reproducing sexually. (mcmaster.ca)
  • Overall reduced variability was observed in these genes mainly in those associated with a Th1 immune pattern. (ufrgs.br)
  • Many genes involved in metabolic pathways have been found to contribute to lipid level variability [ 14 , 26 , 27 ]. (cdc.gov)
  • But the studies that link genetic markers with disease focus largely on white European populations and neglect other races and ethnicities, according to an analysis published in the journal Cell on Thursday. (wypr.org)
  • The sickle-cell gene has become common in Africa because the sickle-cell trait confers some resistance to falciparum malaria during a critical period of early childhood, favouring survival of the host and subsequent transmission of the abnormal haemoglobin gene. (who.int)
  • Although a single abnormal gene may protect against malaria, inheritance of two abnormal genes leads to sickle-cell anaemia and confers no such protection, and malaria is a major cause of ill-health and death in children with sickle-cell anaemia. (who.int)
  • They are also well-defined genetic markers em-ployed in population genetic and anthropological studies [1,2]. (who.int)
  • Aside from the genes themselves changing, the genetic markers that act as signposts can get mixed up and rearranged in different populations, according to the authors. (wypr.org)
  • A common theme demonstrated by these analyses is that distinct bacterial clones are responsible for disease outbreaks and increases in infection frequency. (cdc.gov)
  • Sickle-cell anaemia (also known as sickle-cell disorder or sickle-cell disease) is a common genetic condition due to a haemoglobin disorder - inheritance of mutant haemoglobin genes from both parents. (who.int)
  • The frequencies of CNVs in these populations were analyzed by oligonucleotide array comparative genome hybridization, quantitative PCR, PCR, DNA sequencing across breakpoints, and single-worm PCR. (biomedcentral.com)
  • Population genetic study of bacterial pathogens arose largely as an offshoot of research designed to address questions of longstanding interest to students of the molecular evolutionary processes in higher eukaryotic organisms. (cdc.gov)
  • From an evolutionary standpoint "fitness" means "reproductive fitness," or the propagation of distinctive genes from one generation to the next. (amren.com)
  • Ohno [ 1 ] theorized that newly duplicated genes were freed from the constraints of natural selection, implicating a dominant role of genetic drift in their early evolutionary dynamics. (biomedcentral.com)
  • An evolutionary arms race refers to the competition between two evolving populations to outperform each other. (complexityexplorer.org)
  • Deme (pronounced "deem," from the Greek for "people" and originally referring to a political division within ancient Greece) has been used in biology since the 1930s as a term for a local interbreeding population within a species. (rationalwiki.org)
  • Theoretical Population Biology , 32 (1), 90-113. (ncsu.edu)
  • Due to the high rates of origin of spontaneous duplications and deletions, copy-number changes containing the same genes arose readily in independent populations. (biomedcentral.com)