Genes and alleles variation in gene frequency. Medical search. Frequent questions

Several mutation damage prediction scores are available to prioritize variants, but there is currently no application to help investigators to determine the relevance of the candidate genes and variants quickly and visually from population genetics data and deleteriousness scores. (nih.gov)
This application will be particularly useful in investigations of NGS data for new disease-causing genes and variants, by reinforcing or rejecting the plausibility of the candidate genes, and by selecting and prioritizing, the candidate variants for experimental testing. (nih.gov)
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)
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)
Due to the random assignment of genes at conception, genetic variants predate disease development and are not influenced by environmental risk factors. (frontiersin.org)
Background Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series. (bmj.com)
After controlling for the single known major risk allele, the frequency of oligogenic variants was no different between cases and controls. (bmj.com)
Conclusions A priori, individuals with AD, PD-DLB and FTD-ALS are more likely to harbour a known genetic risk factor, and it is the burden of these variants in combination with rare benign alleles that is likely to be responsible for some oligogenic associations. (bmj.com)
1-5 Some of the known risk alleles are common in the general population, raising the possibility that multiple interacting genetic variants might enhance the risk of developing disease or modify the disease phenotype. (bmj.com)
Structural Variants (SVs) caused by the reorganization of the DNA may connect two distal fragments together leading to gene fusions and chimeric proteins when two distant genes are joined into one. (mdanderson.org)
Detects all types of Structural Variants (SVs) down to 5% Variant Allele Fraction for mosaic samples or heterogeneous cancer samples. (mdanderson.org)
A widely accepted working hypothesis is that allelic variants of OR genes may harbor different functional characteristics and hence, may generate different odorant sensitivity phenotypes in different members of the human population [ 16 - 18 ]. (biomedcentral.com)
For the genomic information, the researchers ran single nucleotide polymorphisms (SNP) microarray that interrogated 4,327,108 genetic variants selected from the International HapMap and 1,000 Genomes Projects and targeted genetic variation down to 1% minor allele frequency (MAF). (news-medical.net)
In this study, we screened for pathogenic variants in 32 genes associated with DSDs and central causes of hypogonadism (CHG) in a whole-genome reference panel including 8380 Japanese individuals constructed by Tohoku Medical Megabank Organization. (bvsalud.org)
We identified 45 coding variants with frequencies ≥ 1% in any one ethnic group (43 non-synonymous variants). (biomedcentral.com)
Cataloging and testing of coding variants in coactivator and corepressor genes should continue and may serve as a valuable resource for investigations of other hormone-related phenotypes, such as inter-individual response to hormonal therapies used for cancer treatment and prevention. (biomedcentral.com)
Some cases of early-onset Alzheimer's disease are caused by gene variants (also called mutations) that can be passed from parent to child. (medlineplus.gov)
Researchers have found that this form of the disorder can result from variants in the APP , PSEN1 , or PSEN2 genes. (medlineplus.gov)
Burden tests were performed for protein-truncating and rare missense variants in 15,616 and 18,601 genes, respectively. (cdc.gov)
Associations between protein-truncating variants and breast cancer were identified for the following six genes at exome-wide significance (P? (cdc.gov)
We aim to determine the prevalence of likely pathogenic and pathogenic variants from AF genes with robust evidence in a well phenotyped early-onset AF population. (cdc.gov)
We detected 195 pathogenic/likely pathogenic variants in 59 known POI-causative genes, accounting for 193 (18.7%) cases. (cdc.gov)

After genotyping and applying various filters, researchers focused on three focal populations, pooling samples according to date (prior to DFTD or after DFTD introduction) in an attempt to identify single nucleotide polymorphisms (SNPs) and associated genes that had extreme allele frequency changes in response to DFTD. (reasons.org)
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)
Over many generations, the selection of beneficial traits associated with particular polymorphisms can lead to gradual changes in the frequency of specific genetic polymorphisms in a genetically-isolated population. (fatsoflife.com)
Studies on polymorphisms found in one cluster of closely-located genes coding for fatty acid desaturases (FADS), enzymes that play an important role in the biosynthesis of both omega-6 and omega-3 LCPUFA, are providing an interesting perspective on the interaction between traditional diets and the population genetic history of humans. (fatsoflife.com)
None of these small polymorphisms can be clearly assigned to changes in the amino acid sequence of the FADS enzymes, and are believed to mostly influence the regulation of gene expression. (fatsoflife.com)
Single nucleotide polymorphisms (SNPs) in genes encoding CD36, ICAM-1 and PECAM-1 have been previously correlated with disease protection/susceptibility from different populations but these reports have often been contradictory. (biomedcentral.com)
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)
In this study, we systematically screened the coding exons of steroid hormone receptor coactivator and corepressor genes in a multiethnic panel of women with breast cancer in an attempt to identify and catalogue potentially functional coding polymorphisms that may serve as genetic markers of breast cancer risk. (biomedcentral.com)
This de novo assembly of a red clover transcriptome from leaf material of droughted and non-droughted plants provides a rich source for gene identification, single nucleotide polymorphisms (SNP) and short sequence repeats (SSR). (biomedcentral.com)
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)
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)

Two candidate regions-one on chromosome 2 and one on chromosome 3-were identified and contained nine unique SNPs that had allele frequency changes at or greater than the 97.5 percentile for the population harboring that specific SNP. (reasons.org)
The researchers admit that further investigation is absolutely necessary to identify which genetic changes and which genes may play a functional role in resistance to DFTD, as their findings point merely to disease-responsive SNPs. (reasons.org)
Several SNPs located in the FADS gene cluster are now known to be related to changes in risk for complex and chronic diseases. (fatsoflife.com)
The aim of this study was to investigate the association of SNPs of three adhesion molecule genes, ICAM1 , PECAM1 and CD36 , with severity of falciparum malaria in a malaria-endemic and a non-endemic region of India. (biomedcentral.com)
The frequency distribution of seven selected SNPs of ICAM1 , PECAM1 and CD36 was determined in 552 individuals drawn from 24 populations across India. (biomedcentral.com)
Furthermore, they evaluated the face gene enrichment in 19,277 SNPs of 3,730 genes by applying a hypergeometric test and a 10,000 iterations Monte Carlo simulation. (news-medical.net)

Our findings suggest that common coding variation in these candidate genes do not make a substantial contribution to breast cancer risk in the general population. (biomedcentral.com)
Comparison of gene expression levels between pools and treatments identified candidate genes for further analysis of the genetic basis of drought tolerance in red clover. (biomedcentral.com)

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)
The candidate regions identified in chromosomes 2 and 3 correspond to regions harboring five genes (one on chromosome 2 and four on chromosome 3) associated with immune function or cancer in other mammals. (reasons.org)
The researchers speculate that the cereblon gene on chromosome 2 (a myeloma treatment target in humans) and two genes on chromosome 3, CD146 and THY1 (immune system regulators involved in cell-to-cell communication and cellular adhesion in humans), are likely to be of greatest interest. (reasons.org)

Analysis of the frequencies of these alleles in Europeans showed that the prevalence of the allele for plant-based diets decreased in Europeans until the Neolithic revolution, after which it rose sharply. (sciencedaily.com)

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)

The human ABO blood group was discovered by Karl Landsteiner in 1900 ( Landsteiner, 1900 ) and its mode of inheritance through multiple alleles at a single generic locus was established by Felix Bernstein a quarter century later ( Bernstein, 1925 ). (scialert.net)
The ABO groups are inherited through multiple alleles at one locus, as seen by Bernstein nearly 80 yeas ago ( Bernstein, 1925 ). (scialert.net)
We reveal that repeated ecological and morphological diversification along a common environmental axis is associated with both genome-wide allele frequency shifts and a specific, larger effect, locus, associated with the gene edar . (biorxiv.org)
114 (1997) 83] developed a congenic B6.CAST-+Ahl mouse which carries the wild-type allele from Mus musculus castaneus at the Ahl locus. (cdc.gov)

Measuring autozygosity further provides an assessment of the full effect of deleterious alleles, as individuals that carry greater levels of autozygosity are expected to exhibit decreased fitness ( Charlesworth and Willis 2009 ). (biorxiv.org)
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)
An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity. (lu.se)

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)
Positive Selection of an Indel Polymorphism in the FADS Gene Cluster May be Driving Long-Chain PUFA Biosynthetic Capacity in Specific Human Populations. (fatsoflife.com)
This study reports a 22-bp nucleotide insertion-deletion (indel) genetic polymorphism that may be causally related to the control of gene expression of the fatty acid desaturases, enzymes that control the biosynthesis of long-chain polyunsaturated fatty acids (LCPUFA) from 18-carbon PUFA. (fatsoflife.com)
The polymorphism was present as an insertion in cells derived from a group of Japanese individuals, but was completely absent (a deletion) in others, albeit with a lower frequency (hence called the minor allele). (fatsoflife.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)

Such an extremely quick response indicates, as the researchers observe, that the selection most likely acts on standing genetic variation rather than new mutations. (reasons.org)
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)
To find out whether mutations in any known circadian genes were linked to DSPD, Young- - along with research associate Alina Patke, the first and co-corresponding author of the new paper - collaborated with sleep researchers at Weill Cornell Medical College. (neurosciencenews.com)
These variations can arise from genetic mutations, genetic recombination during reproduction, or other sources of genetic diversity. (darwinism-watch.com)
Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
[ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. (lu.se)

GEP studies also assess non-genetic throughput genomic techniques and the exposures, partly in recognition of the related bioinformatics to support GEN's importance of non-genetic factors in large-scale molecular epidemiology driving cancer incidence, and also to projects and other IARC genomics facilitate accurate assessment of gene- projects. (who.int)

In genetic terms, these combinations are called genotypes and they describe the genes that an offspring inherited from his parents. (scialert.net)
A child receives one of the three alleles from each parent, giving rise to six possible genotypes and four possible blood types (phenotypes) ( Table 2 ). (scialert.net)
The dynamics of genetic variation (variance across different genotypes) and environmental variation (variance across different environments) may be controlled by different mechanisms. (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)

ALFRED is a resource of gene frequency data on human populations supported by the Yale Center for Medical Informatics. (yale.edu)
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)
The frequencies exhibit considerable variation in different geographic locations, reflecting the underlying genetic and ethnic diversity of human populations [3]. (who.int)
The population frequency of the indel (rs66698963) is remarkably different among human populations with the insertion being far more frequent in South Asians, Africans and some East Asian populations, and far less common in European and other East Asian populations. (fatsoflife.com)
The effects on omega-3 LCPUFA homeostasis remain to be reported, but further exploration of indel frequency in populations may significantly augment our understanding of the link between diet and PUFA status in health and disease. (fatsoflife.com)
Susceptibility/resistance of human populations to severe falciparum malaria has been associated with variations in more than 30 genes. (biomedcentral.com)
The researchers also found a gradient in the frequencies of these alleles from north to south since the Neolithic Era, including modern-day populations. (sciencedaily.com)
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)

Cellular response to estrogens is mediated through estrogen receptors (ERα and ERβ), which upon binding to ligand and DNA hormone response elements, recruit coactivator and corepressor proteins that regulate the expression of steroid hormone target genes. (biomedcentral.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)
1 The research is relatively vague in regard to what may actually be providing some Tasmanian devils with resistance to a transmissible form of cancer known as DFTD (devil facial tumor disease), but data points to changes in allele frequencies in two regions of chromosomes 2 and 3. (reasons.org)
The gain and losses of important genes and regulatory elements due to SVs will impact phenotype causing disease such as cancer and sex development disorders. (mdanderson.org)
The CD36 rs1334512 (-53) T allele as well as the TT genotype associated with protection from severe disease (severe versus control, TT versus GG, OR = 0.37, P = 0.004). (biomedcentral.com)
the G allele was a risk factor for malaria in the endemic region, but exhibited significant association with protection from disease in the non-endemic region. (biomedcentral.com)
Plant-based alleles regulate cholesterol levels and have been associated with risk of many diseases, including inflammatory bowel disease, cardiovascular disease, arthritis and bipolar disorder. (sciencedaily.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)
Other cases of early-onset Alzheimer's disease may be associated with changes in different genes, some of which have not been identified. (medlineplus.gov)
Alzheimer's disease is probably related to variations in one or more genes in combination with lifestyle and environmental factors. (medlineplus.gov)
A gene called APOE has been studied extensively as a risk factor for the disease. (medlineplus.gov)
In particular, a variant of this gene called the e4 allele seems to increase an individual's risk for developing late-onset Alzheimer's disease. (medlineplus.gov)
There was a 3.0% diagnostic yield for identifying a likely pathogenic or pathogenic variant across AF genes with robust gene-to-disease association evidence. (cdc.gov)

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)

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)
Young's lab has studied the circadian clock for more than three decades, identifying a number of the genes involved in keeping flies, humans, and other animals on schedule when it comes to eating and sleeping. (neurosciencenews.com)
Analysis of ancient DNA revealed that prior to humans' farming, the animal-based diets of European hunter-gatherers predominantly favored the opposite version of the same gene, which limits the activity of FADS1 enzymes and is better suited for people with meat and seafood-based diets. (sciencedaily.com)

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)
Bionano Optical Genome Mapping directly observes structural variations by linearizing and imaging DNA in its native state using massively parallel Nano-Channels. (mdanderson.org)
The motifs occur approximately 8-28 times per 100 kbp, depending on its frequency in a particular genome. (mdanderson.org)
Using a custom SNP microarray we validated 150 SPGs in a cohort of 468 individuals, with every individual genome averaging 36 disrupted sequence variations, 15 in homozygote form. (biomedcentral.com)
Thus, the research programme gene or genome-wide genotyping of GCS complements that of GEP, studies, as well as sequencing work. (who.int)

Air pollution impacts gene expression and pathways affecting cardio-metabolic and respiratory traits, when controlling for genetic ancestry. (nature.com)
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)
Variation: Within any population, individuals exhibit variation in their heritable traits. (darwinism-watch.com)
Accumulation of Favorable Traits: Over time, as more individuals with advantageous traits survive and reproduce, the frequency of those traits increases in the population. (darwinism-watch.com)
The process of natural selection acts on the variation present within a population, favoring individuals that possess traits better suited to their environment and enabling them to leave more offspring. (darwinism-watch.com)

The population frequency of the allele corresponding to the rs66698963 insertion (allele named I) or deletion (allele named D) was determined from genomic DNA extracted from human samples (blood, breast milk, and placenta) obtained from several participating institutions in the US and Canada (n=211, nearly all from Kansas City), as well as from a group of Asian Indians (n=76). (fatsoflife.com)
Genomic analyses clustered only one couple together per copy number variation (CNVs). (news-medical.net)
One hundred and eighty participants, including 9 BRCA1/2 PV carriers, were asked about their willingness to receive individual genomic results, without revealing the gene name and related disorders, prior to the study. (bvsalud.org)

Association of the ICAM1 rs5498 (exon 6) G allele and the CD36 exon 1a A allele with increased risk of severe malaria was observed (severe versus control, OR = 1.91 and 2.66, P = 0.02 and 0.0012, respectively). (biomedcentral.com)

In 2012, a much larger, 22-base pair long stretch of nucleotides was identified within a part of the FADS-2 gene that is not translated to protein (an intron). (fatsoflife.com)
This genetic variant, termed an indel (insertion/deletion mutation), was found to influence the regulation of the expression levels of both FADS-1 and FADS-2 in a cellular system, with the minor allele in Japanese people being associated with lower expression of the FADS-1 and FADS-2 genes. (fatsoflife.com)

Some SVs, such as deletions and duplications, change the dosage of DNA and are considered copy number variations (CNVs). (mdanderson.org)
Finally, we generated a multi-source compendium of 63 OR loci harboring deletion Copy Number Variations (CNVs). (biomedcentral.com)

The expression of the O allele is recessive to that of A and B, which are said to be co-dominant. (scialert.net)
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 is not surprising given the strong evidence for interaction between myelin and axon gene expression in development and after experimental nerve lesions. (medscape.com)
How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)

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)
Thus, a few years later, when Lev Yampolsky and I (2001) used computer simulations to demonstrate that bias (mutational or developmental) in the introduction of variation is a possible cause of direction in neutral or adaptive evolution, we were showing a causal link that is both 1) a basic principle of population genetics, and 2) a heresy at odds with the professed views of the founders of population genetics. (blogspot.com)
Our findings highlight genetic contributions to fitness, and the importance of effective population size and gene flow to counteract loss of genetic variation in a wild, free-ranging social carnivore. (biorxiv.org)
It is crucial for managers to mitigate factors that significantly reduce effective population size and genetic connectivity, which supports the dispersion of genetic variation that aids in rapid evolutionary responses to environmental challenges. (biorxiv.org)
The researchers speculate that genes in these regions may end up being key in providing Tasmanian devils with resistance to the aggressive and easily transmitted form of cancer that has wiped out 80 percent of the population in just two decades. (reasons.org)
Cell-surface receptors are often characterized by several haplotypic alleles in the population, sometimes with different functional properties. (biomedcentral.com)
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)
Genetic Drift: Genetic drift refers to the random fluctuations in the frequencies of alleles (alternative forms of genes) within a population. (darwinism-watch.com)
How- frequency of ABO and Rh blood groups ever, forf unclear results (158 cases) reverse in the population of Poonch district, Azad typing (crossmatching) was performed for Jammu and Kashmir, with a view to gener- blood group confirmation. (who.int)

Speciation with gene flow often occurs in the form of ecological speciation. (biorxiv.org)
Females in whom preferential inactivation of the non-altered paternal allele occurs can have features of Hunter syndrome. (medscape.com)

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)

The protein made by CRY1 is normally responsible for suppressing some of these genes during certain parts of the cycle. (neurosciencenews.com)
But Young and Patke discovered that the mutation identified in the patient made the CRY1 protein more active than usual, keeping other clock genes switched off for a longer period of time. (neurosciencenews.com)
When any of these genes is altered, large amounts of a toxic protein fragment called amyloid beta peptide are produced in the brain. (medlineplus.gov)

People with the "night owl" variant of this gene have a longer circadian cycle than most, making them stay awake later, the team reported April 6 in Cell . (neurosciencenews.com)

61 Mendelian Diseases, 151 Primary Immunodeficiency Diseases(PID) and 5 DPWG recommeded Essential pharmacogenetic(PGx) genes were analyzed. (researchsquare.com)

As a result, Bionano mapping yields hundreds of times more contiguous assembly than sequencing technologies alone can provide with unparalleled sensitivity for large structural variations (SVs) from 500 bp to mega base pair lengths. (mdanderson.org)

Now concerning the inheritance of the ABO groups, the precise mechanism may change, although the triple allele theory of Bernstein is adequate for all practical purposes. (scialert.net)
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)

Several functional studies have reported that the Ahl gene renders mice more susceptible to noise-induced hearing loss (NIHL) than strains which do not carry this gene [e.g. (cdc.gov)
Functional data from each mouse were aligned with the cytocochleogram using the frequency-place map of Ou et al. (cdc.gov)

As expected for group-living species, mean kinship significantly increased over time, although we found high retention of genetic variation. (biorxiv.org)

which means one copy of the altered gene in each cell is sufficient to result in warfarin sensitivity. (medlineplus.gov)

Natural selection quickly increases in frequency any alleles which confer protection against the exogenous stress. (discovermagazine.com)

These models (like many used in molecular evolution) treat evolutionary change as a recurring origin-fixation process in which new mutant alleles are introduced, and then individually face acceptance or rejection according to a probability function representing the effect of reproductive sorting. (blogspot.com)
The increase in frequency of the mutant gene though is balanced by the fact that mutant homozygotes have decreased fitness. (discovermagazine.com)

But, baked into the cake of how genetics in complex organisms usually works, one allele may often have multiple downstream consequences. (discovermagazine.com)

The FADS1 gene found in these vegetarian farmers produces enzymes that play a vital role in the biosynthesis of omega-3 and omega-6 long-chain polyunsaturated fatty acids (LCPUFA). (sciencedaily.com)

Gene fusions are often major cancer driving events, especially in pediatric cancers and liquid tumors. (mdanderson.org)
Only a limited number of studies have performed comprehensive investigations of coding variation in relation to breast cancer risk. (biomedcentral.com)
Given the established role of estrogens in breast cancer, we hypothesized that coding variation in steroid receptor coactivator and corepressor genes may alter inter-individual response to estrogen and serve as markers of breast cancer risk. (biomedcentral.com)
GeneS and GeneTic profileS ThaT conTribuTe To The developmenT of cancer and elucidaTe how They exerT Their effecT alonG wiTh environmenTal facTorS. (who.int)

Identify genes of interest, their locations, and how SVs impact them for downstream Applications. (mdanderson.org)

These days, smartphones and closed-circuit television (CCTV) cameras use facial recognition software, igniting interest in normal-range face variations. (news-medical.net)
In no iteration of random gene sets did facial genes exceed the number of face genes represented in the 19,277 SNP selection. (news-medical.net)

Results The majority of oligogenic variant combinations consisted of a highly penetrant allele or known risk factor in combination with another rare but likely benign allele. (bmj.com)
Genetic variation in over 50 genes contributes to the risk of developing neurodegenerative diseases. (bmj.com)

Based on characteristics of DFTD, the allele frequency changes in these regions, and localized genes and the homologous gene product function in other mammals, the researchers suggest that these allele changes are indicative of an adaptive immune response to DFTD cells. (reasons.org)

The data highlights the significance of variations in the ICAM1 , PECAM1 and CD36 genes in the manifestation of falciparum malaria in India. (biomedcentral.com)
By performing data-mining from public and private sources we scored genetic variations in 413 intact OR loci, for which one or more individuals had an intact open reading frame. (biomedcentral.com)

These results indicate that, at one month of age, mice carrying two copies of the Ahl gene have an increased susceptibility to TTS from a low-frequency noise before they have any indication of age-related hearing or hair-cell loss. (cdc.gov)

Recent research hints that genetic variations may be the Tasmanian devils' saving grace-as it may be the hallmark of a robust adaptive capacity allowing a species to survive even when threatened beyond the ability to thrive. (reasons.org)

Importantly, the state of plasticity or homeostasis, with respect to either genetic or environmental variation, is not necessarily static and can be modified by both genetic and environmental factors. (nature.com)

Although little intraspecific variation was evident, the marker was polymorphic in slash pine. (researchgate.net)

Anatomy1

Organisms3

Diseases2

Chemicals and Drugs15

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Psychiatry and Psychology1

Phenomena and Processes64

Disciplines and Occupations3

Anthropology, Education, Sociology and Social Phenomena2

Information Science6

Named Groups6

Health Care17

Geographicals3

Variants23

Polymorphisms19

SNPs6

Candidate genes2

Chromosome3

Prevalence1

Specific genes2

Locus4

Deleterious3

Polymorphism5

Mutations7

Genomics1

Genotypes4

Populations8

Proteins1

Disease12

Genotype2

Humans4

Genome6

Traits5

Genomic3

Exon1

FADS2

CNVs2

Expression5

Population9

Occurs2

Phenotypes1

Protein3

Variant of this gene1

Mendelian1

Sequencing1

Inheritance2

Functional2

Significantly1

Sensitivity1

Increases1

Mutant2

Organisms1

Fatty1

Cancer4

Identify1

Facial2

Risk2

Mammals1

Data2

Results1

Genetic variations1

Environmental variation1

Marker1