Mutation linkage disequilibrium. Medical search. Frequent questions

This is one definition of mutation and polymorphism. (tripod.com)
Our study suggests that a polymorphism/mutation in the promoter or regulatory region of PSEN1 rather than the polymorphism in intron 8 of PSEN1 is associated with early onset AD. (ox.ac.uk)
Similar findings existed for CD patients with homozygous mutations in any single-nucleotide polymorphism for FUT2 (homozygous: 41.2%, heterozygous: 25.9%, wild-type: 5.6%, P=0.04). (tau.ac.il)
Single nucleotide polymorphism analysis was used to refine the region which contains the mutations responsible for this trait and to examine the linkage disequilibrium in this region. (edu.au)
Mutation analysis of the TBCE gene of this syndrome was shown to be due to Polymerase chain reaction/single-strand mutations in the TBCE gene in chromosom- conformation polymorphism analysis and al area 1q42-q43 [ 4,5 ]. (who.int)

Genetic mutations of FUT1 and FUT2 genes were analysed by DNA sequencing. (nih.gov)
Blood samples from 331 randomly-selected Chinese donors were analysed with the SNaPshot system to distinguish five known mutations (Se C357T, A385T, G428A, G716A and FUT1 880delTT) in the FUT1 and FUT2 genes. (nih.gov)
Initiation and propagation of tumors reflect underlying genomic alterations such as mutations, polymorphisms, and copy number variations found in genes of multiple cellular pathways. (hindawi.com)
Inherited mutations in a small number of genes account for about five to ten percent of women's cancers.These inherited variations, identified in breast, ovarian, and endometrial cancer susceptibility, can be characterized in the general population by their frequency and the magnitude of their impact upon a patient (Table 1 ).Some inherited variants occur rarely in the general population, but confer large risks to the individual. (hindawi.com)
An example of this class of genes is a mutation in the CHEK2 gene in breast cancer. (hindawi.com)
Despite these advances made in identifying inherited breast cancer susceptibility genes, the vast majority of breast cancers are sporadic, that is, no identifiable mutation in one of the known breast cancer susceptibility genes. (hindawi.com)
Although inherited mutations in a small number of genes account for only about five to ten percent of women's cancers, by far the BRCA1 and BRCA2 gene mutations are the most common examples of this observation (50-70% of familial breast cancers) [ 2 ]. (hindawi.com)
In addition we also find that there is a significant enrichment of genes annotated for disease-causing mutations in the OMIM database, suggesting that in complex diseases such as SLE, such mutations may be involved in subtle or combined phenotypes or could accelerate specific organ abnormalities found in the disease. (frontiersin.org)
Recently, we have implemented and successfully applied a method based on genotype imputation of rare variation, on a set of genes detected by exome sequencing as possible candidates for association to systemic lupus erythematosus (SLE) by mutation in members of Icelandic SLE-multicase families ( 15 ). (frontiersin.org)
Mutations in three genes coding for the amyloid precursor protein ( APP ), presenilin 1 ( PS-1 ), and presenilin 2 ( PS-2 ) account for most cases of early onset, autosomal dominant familial AD (FAD), but only for 2% of all the AD cases. (bmj.com)
A new version of a gene created by a mutation has specific neighbouring genes. (mcgilldaily.com)
We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates. (dukecancerinstitute.org)
Among the 58 genes studied, the majority had one or more segregating mutations (72.9%) that were significantly diverged among the three taxa. (bvsalud.org)

After employing a series of quality controls, we utilize this call set to analyze determinants of STR variation, assess the human reference genome's representation of STR alleles, find STR loci with common loss-of-function alleles, and obtain initial estimates of the linkage disequilibrium between STRs and common SNPs. (biorxiv.org)
Association tests accounting for population structure and familial relatedness are consistent with a proposed model where these alleles are in linkage disequilibrium with a mutation or mutations that contribute to the BEW phenotype and to individual differences in fleece color. (datadryad.org)
Linkage Disequilibrium (LD) was first defined about 100 years ago as the non-random association of alleles at different loci [ 1 ]. (biomedcentral.com)
Rare alleles and mutations that impart a moderate risk of SLE remain undiscovered and cannot be found by GWAS. (medscape.com)

Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy. (medscape.com)
This 24% increase in estimated heritability is largely due to resolving incomplete linkage disequilibrium through the inclusion of additional causal structural variants identified using the graph pangenome. (nature.com)
It would be very unexpected to find rare variants that could have substantial effect sizes and therefore high penetrance contributing to complex traits, being more likely to have mutations with modest effects. (frontiersin.org)
Negative linkage disequilibrium between amino acid changing variants reveals interference among deleterious mutations in the human genome. (academictree.org)
In conclusion, our results suggested that HMGB1 variants are significantly inversely associated with EGFR mutations among NSCLC patients who smoked. (jcancer.org)
G variants within regions affected by excess maternal mutations indicate that the underlying mutational process has persisted in humans for thousands of years. (ox.ac.uk)
About 50 common variants have been shown to modify BC risk for mutation carriers. (ox.ac.uk)
Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. (ox.ac.uk)
We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P -8, at 5 loci, which are not associated with risk in the general population. (ox.ac.uk)

The para-Bombay phenotype results from a variety of mutations in the α-(1,2)-fucosyltransferase gene (FUT1). (nih.gov)
An intronic mutation may well result in a non-functional gene (like the splicing site mutation in CYP21A2 ). (tripod.com)
The other one is that mutation is any variation in the gene that causes an obvious change in phenotype whereas polymorphisms do not cause any obvious phenotypic variation. (tripod.com)
White spotting patterns in mammals can be caused by mutations in the gene KIT, whose protein is necessary for the normal migration and survival of melanocytes from the neural crest. (datadryad.org)
Thus, this study reports the results of a mutation analysis of the coding region of the SLC2A10 gene and the identification of six novel single nucleotide polymorphisms. (diabetesjournals.org)
If the mutation is old, then enough swapping will have happened that the gene appears with all sorts of neighbours. (mcgilldaily.com)
If the mutation is new, then the gene will always be found with the same neighbors, because not much swapping has happened. (mcgilldaily.com)
Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
2013). A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. (antagene.com)
1993). Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. (antagene.com)
2015). Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. (antagene.com)
2011). A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. (antagene.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)

Moreover, significant inverse associations between the CG and CG + GG genotypes of HMGB1 rs2249825 and the EGFR hotspot mutation, an exon 19 in-frame deletion, were also observed among NSCLC patients. (jcancer.org)

The features of modern dog breeds that increase the ease of mapping common diseases, such as reduced heterogeneity and extensive linkage disequilibrium, may also increase the difficulty associated with fine mapping and identifying causative mutations. (upenn.edu)
Next-generation sequencing was used to identify possible causative mutations. (edu.au)

2002). Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. (antagene.com)

Several female malignancies including breast, ovarian, and endometrial cancers can be characterized based on known somatic and germline mutations. (hindawi.com)
Whole-genome sequencing data of individuals from the UK Biobank and Iceland and a somatic mutation barcoding strategy enabled detection of clonal hematopoiesis at scale. (nature.com)

This results in a good compromise between the power to detect causal mutations and the precision of their localization. (lu.se)
Instead, the identified SNP is in linkage disequilibrium with the causal variant. (medscape.com)

There is strong evidence that inherited genetic factors (mutations plus single nucleotide polymorphisms) can play a major role in breast cancer susceptibility [ 1 ]. (hindawi.com)
The aim of this study was to explore potential associations between genetic polymorphisms of HMGB1 and EGFR mutations in a cohort that included 280 patients with NSCLC, some of whom were smokers and others who never smoked. (jcancer.org)
In a population-based series of 102 patients with early onset AD and 118 community controls we examined whether polymorphisms in linkage disequilibrium with intron8 of PSEN1 may explain the association. (ox.ac.uk)
In the non-mutation cases, the weak associations between the polymorphisms in the regulatory region remained. (ox.ac.uk)
We find 108,778 de novo mutations, both single nucleotide polymorphisms and indels, and determine the parent of origin of 42,961. (ox.ac.uk)

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. (ox.ac.uk)
These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers. (ox.ac.uk)

By adopting a method originally designed to detect linkage disequilibrium of DNA mutations, we examined the editomes of ten metazoan species and detected extensive linkage of editing in Drosophila and cephalopods. (univ-lyon1.fr)

The prevalent linkages of editing in these two clades, many of which are conserved between closely related species and might be associated with the adaptive proteomic recoding, are maintained by natural selection at the cost of genome evolution. (univ-lyon1.fr)
To understand how the age and sex of transmitting parents affect de novo mutations, here we sequence 1,548 Icelanders, their parents, and, for a subset of 225, at least one child, to 35× genome-wide coverage. (ox.ac.uk)
G mutation rate that is up to 50-fold greater than the rest of the genome. (ox.ac.uk)
We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. (ox.ac.uk)
Analysis of these large elucidatinG the etioloGical role sites, and also patterns of genetic genome-wide studies also includes a of obeSity and related riSk factorS mutations that are observed in tumours. (who.int)

Heterozygous mutations of FUT1 were identified by TOPO cloning sequencing. (nih.gov)
Patients with rs601338 mutations had higher rates of the primary outcome (homozygous: 46.6%, heterozygous: 28.0%, wild-type: 5.3%, P=0.02). (tau.ac.il)
Mutation of rs601338 was associated with lower rates of penetrating disease (homozygous: 13.3%, heterozygous: 28.0%, wild-type: 52.6%, P=0.05) and particularly in high-risk patients (homozygous: 0%, heterozygous: 37.5%, wild-type: 83.3%, P=0.01). (tau.ac.il)
All of the parents were heterozygous carriers of this mutation. (who.int)

2006). Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. (antagene.com)
In plants, the most dramatic form of mutation is polyploidization, the duplication of the chromosome set. (lu.se)

In Kuwait, no precise data are the only exons where mutations have been available, although some reports have been previously reported [ 5 ]. (who.int)

When mutations confer a net increase in fitness, they are expected to increase in frequency in affected populations [8] , [9] . (prolekarniky.cz)

Parental influence on human germline de novo mutations in 1,548 trios from Iceland. (ox.ac.uk)

Our data confirm the hypothesis that the h2 allele is linked to Se(357, 716), and the concurrence of unique FUT1 and FUT2 mutations is geographically specific. (nih.gov)
FUT2 homozygous nonsense mutations (FUT2M) and subsequent nonsecretor status is associated with Crohn's disease (CD). (tau.ac.il)
Conclusions: FUT2 mutation status is associated with a favorable clinical course in CD. (tau.ac.il)

The multibreed approach increases the number of potentially informative recombination events and reduces the size of the critical haplotype by taking advantage of shortened linkage disequilibrium distances found across breeds. (upenn.edu)
Using either a single affected subject per family or all affected subjects, evidence for excess transmission was found by the Transmission Disequilibrium Test for rs2056202, rs2292813, and a two-locus G*G haplotype. (neurotransmitter.net)

Furthermore, the linkage of editing in coding regions of worms and humans might be overall deleterious, which drives the evolution of DNA sites to escape promiscuous editing. (univ-lyon1.fr)
This demonstrates that sequence diversity in humans results from evolving interactions between age, sex, mutation type, and genomic location. (ox.ac.uk)

The contributions of any single genetic variation or mutation in a population depend on its frequency and penetrance as well as tissue-specific functionality. (hindawi.com)
Overall, these analyses further elucidate the scale of genetic variation beyond classical point mutations. (biorxiv.org)
How exactly do mutations cause genetic variation in bilaterians? (stackexchange.com)

It is considered a rare, benign variant in linkage disequilibrium with a more severe variant. (jupiter.no)

Evidence for linkage was supported by linkage analysis with the two SNPs, with a maximal multipoint nonparametric linkage score of 1.57 and a maximal multipoint heterogeneity lod score of 2.11. (neurotransmitter.net)

Most mutations are not beneficial, leading to weaker or less "fit" individuals who don't have as many offspring. (mcgilldaily.com)
Why is linkage disequilibrium high on either side of a beneficial mutation, but not between sites across the mutation, during a selective sweep? (stackexchange.com)
These changes may increase the frequency of mutations that are beneficial in the new environment. (prolekarniky.cz)
A mutation increasing disease risk can accompany a beneficial mutation through linkage disequilibrium (LD). (prolekarniky.cz)

Such differences caused different mutations to be favoured, and different traits to evolve. (mcgilldaily.com)

In the second stage, the two SNPs in SLC25A12 were further genotyped in 411 autistic families, and linkage and association tests were carried out in the 197 informative families. (neurotransmitter.net)
RESULTS: Linkage and association were observed between autistic disorder and the two SNPs, rs2056202 and rs2292813, found in SLC25A12. (neurotransmitter.net)

1999). CGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh Corgi dog. (antagene.com)

The number of clustered mutations increases faster with the mother's age than with the father's, and the genomic span of maternal de novo mutation clusters is greater than that of paternal ones. (ox.ac.uk)

When excluding PSEN1 mutation cases (n = 6), the intron 8 association was explained by linkage disequilibrium to the dominant PSEN1 mutations. (ox.ac.uk)

Two haplotypes were present in BEW (blue-eyed white) individuals and this suggested that two mutations contribute to this phenotype. (edu.au)

Mutation involves any change in the hereditary material: from a point mutation to a chromosomal loss. (tripod.com)

This work both establishes that the primary cea mutation arose as a single disease allele in a common ancestor of herding breeds as well as highlights the value of comparative population analysis for refining regions of linkage. (upenn.edu)
On multivariable analysis, rs601338 mutation was associated with the primary outcome (odds ratio=3.4, 95% confidence interval: 1.3-8.7, P=0.01), while other parameters were not. (tau.ac.il)

But when a mutation is helpful, it gets passed on to the next generation, mixed into the greater population, and can become common. (mcgilldaily.com)
are in linkage disequilibria with the HLA-drb1 locus in a japanese population. (lu.se)

Regardless of whether there was a single major expansion or two, several DNA studies clearly showed that genetic diversity tends to decrease [ 21 , 22 ] and linkage disequilibrium to increase [ 23 , 24 ] at increasing distances from Africa. (biorxiv.org)

33]). In Labrador retrievers, the recessive eumelanin-lightening liver mutation was associated with lower trainability [32,34]. (researchgate.net)

les analyses génétiques réalisées sur six d'entre eux ont révélé une délétion de 12 bp (155-166 del) dans l'exon 3 localisé en 1q42-43 dans le gène TBCE codant la protéine chaperon E spécifique de la tubuline. (who.int)

In turn, those who survived the epidemics became resistant to the disease, and this was sometimes conferred by new mutations. (mcgilldaily.com)
Measures of linkage disequilibrium (LD) play a key role in a wide range of applications from disease association to demographic history estimation. (biomedcentral.com)

Diversification requires processes that generate diversity (mutation, recombination) and processes that filter this diversity (drift, natural selection). (lu.se)

Altogether, our results suggest that the linkage landscape of A-to-I editing has evolved during metazoan evolution. (univ-lyon1.fr)
The paper's results were obtained by a simple method called linkage disequilibrium. (mcgilldaily.com)

To have a functional consequence, a mutation does not have to be in the coding region. (tripod.com)

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. (ox.ac.uk)

One way to address this problem is by combining data from multiple breeds segregating the same trait after initial linkage has been determined. (upenn.edu)
2013). IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. (antagene.com)
2013). Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. (antagene.com)

The number of de novo mutations from mothers increases by 0.37 per year of age (95% CI 0.32-0.43), a quarter of the 1.51 per year from fathers (95% CI 1.45-1.57). (ox.ac.uk)

Strongly deleterious mutations are a primary determinant of extinction risk due to inbreeding depression. (academictree.org)

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