Genes lod score. Medical search. Frequent questions

Haplotype analysis placed the cataract locus to a 5.0 cM region between D19S902 and D19S867, in close proximity to the L-ferritin light chain gene (FTL) on chromosome 19q13.3. (nih.gov)
Linkage analysis mapped the underlying gene to a region on chromosome 1q22-q23 with a maximum two-point LOD score of 2.036. (nih.gov)
Linkage and comparative mapping studies indicate that the transferred chromosome segment contains a number of candidate genes for hypertension, including genes encoding a brain dopamine receptor and a renal epithelial potassium channel. (jci.org)
These findings demonstrate that BP regulatory gene(s) exist within the differential chromosome segment trapped in the SHR-Lx congenic strain and that this region of chromosome 8 plays a major role in the hypertension of SHR vs. BN-Lx rats. (jci.org)
The gene mutated in this disorder lies within a 3.1 Mb interval containing 33 genes on chromosome 16q23.3-24.1 (chr16:83639061 - 86716445, hg19). (molvis.org)
By performing a whole genome linkage search, we mapped a recessive gene for this disorder to a 6.5 Mb interval on chromosome 16q23.2-24.2. (molvis.org)
A region of homozygosity harboring the neonatal diabetes disease gene on chromosome 10p12.1-p13 was identified (multipoint logarithm of odds score 3.25). (diabetesjournals.org)
It is likely that chromosome 10p12.1-p13 may harbor a maturity-onset diabetes of the young or type 2 diabetes gene. (diabetesjournals.org)
To investigate the possibility that a novel candidate gene for XLMR was disrupted at the X chromosome translocation breakpoint, we mapped the breakpoint using fluorescence in situ hybridisation (FISH). (bmj.com)
Characterisation of breakpoints in patients with apparently balanced constitutional chromosome rearrangements and phenotypic abnormalities has proved an invaluable strategy for identifying disease causing genes, especially those on the X chromosome. (bmj.com)
3- 6 Phenotypic abnormalities seen in cases with apparently balanced chromosome rearrangements have usually been explained by the disruption of a gene at the breakpoint causing the loss of gene function. (bmj.com)
18- 21 Xq28 is a highly gene rich region of the human X chromosome and we focused on the X chromosome breakpoint as the identification of a disrupted gene here would be a rapid way to identify a further candidate gene for X linked mental retardation within Xq28. (bmj.com)
In linkage studies in which multiple related traits (such as obesity, diabetes, and hypertension) are analyzed, it is often of interest to see if several of the traits have linkage signals around a common region, often done by simply visualizing the LOD scores along a chromosome. (biomedcentral.com)
The maximum two-point LOD score based on only the affected individuals was 2.21, at recombination fraction 0, at marker D7S2195 on chromosome 7q. (duke.edu)
The quality and accuracy of the bin map for QTL detection was verified by the mapping of a known gene, pericarp color 1 ( P1 ), which controls the color of the cob, with a high LOD value of 80.78 on chromosome 1. (biomedcentral.com)
High-resolution linkage mapping for susceptibility genes in human polygenic disease: insulin-dependent diabetes mellitus and chromosome 11q. (ox.ac.uk)
Recent studies of the nonobese diabetic mouse (NOD) model of IDDM have suggested the presence, on mouse chromosome 9, of a susceptibility gene linked to the locus encoding the T-cell antigen, Thy-1. (ox.ac.uk)
We have used a set of polymorphic DNA markers from chromosome 11q to investigate this region for linkage to a susceptibility gene in 81 multiplex diabetic pedigrees. (ox.ac.uk)
We were able to exclude the presence of a susceptibility gene (location scores less than -2) throughout greater than 90% of the chromosome 11q homology region, under the assumption that the susceptibility factor would cause greater than 50% of affected sib pairs to share two alleles identical by descent. (ox.ac.uk)
Positional candidates in this region of chromosome 6 were analyzed with respect to a possible role in carcinogenesis and a role in inflammatory response using a new epigenetic gene scoring tool (Myeloid Inflammation Score). (jax.org)
A previous autosome-wide screen identified a nonparametric linkage (NPL) log-likelihood ratio (LOD) score of 2.7 on chromosome 6q26 for the sum of nine withdrawal symptoms. (sri.com)
The authors considered various pathogenetic mechanisms: revertant mosaicism, silencing of a second PTPN11 mutation, genes located on a sex chromosome influencing the phenotype, and epigenetic influences. (medscape.com)

Our aim is to explore approaches to collecting information from multiple sub-clinical traits (e.g., gene expression, protein levels, metabolite measurements) in search for loci responsible for complex diseases. (biomedcentral.com)
Given a particular regulatory/metabolic pathway that is important in the development of a disease, we use the expression levels of genes in the pathway to map the loci affecting the pathway, thus affecting the clinical outcome. (biomedcentral.com)
The heterogeneity LOD (HLOD) at the 6q, 2p and 14q loci in all families was 3.27, 1.66 and 1.24, respectively. (lu.se)
Further studies will be required to confirm these findings, to refine the location of gene responsible for the observed linkage, and to screen the candidate genes targeted at these loci for mutations. (ox.ac.uk)
Since MDDC was recalling the better known XLDC form, determined by mutations of dystrophin, a candidate genes linkage analysis was performed for more than 30 loci where candidate genes coding for structural proteins of the cytoskeleton, the sarcolemma or the extra cellular matrix are localized. (sissa.it)
A previous genome-wide linkage scan identified loci that may be regulators of gene expression: our genome-wide joint linkage and imprinting scan using a variance-components approach found significant signals for linkage. (qxmd.com)
We genotyped 408,273 SNPs and identified expression quantitative trait loci from measurements of 54,675 transcripts representing 20,599 genes in Epstein-Barr virus-transformed lymphoblastoid cell lines. (ox.ac.uk)
Some loci have high LOD scores, such as qT3α / to2-1 with 10.32 LOD score, qT3α2-1 of 9.91 LOD score. (chinbullbotany.com)
RESULTS: For both the microsatellite and SNP markers, linkage analysis suggested the involvement of a locus or loci proximal to the telomeric regions of chromosomes 2q and 7p, with both regions generating a LOD* score of 3.0 using a nonparametric identity by descent relative sharing method. (duke.edu)

Because of cross-species concordance, QTL and their underlying candidate genes can first be identified, cost-effectively, in mice and then the genes can be tested relatively easily in humans and verified in mice. (jax.org)
This mechanism is now well recognized in humans, and the deregulation of imprinted genes has been implicated in a number of diseases. (qxmd.com)
To date, no major causative genes have been identified in humans despite several investigations. (duke.edu)

A genome-wide scan by two-point linkage analysis using more than 400 microsatellite markers in combination with multipoint lod score and haplotype analysis was performed. (nih.gov)
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)
Multipoint analysis based on only the affected individuals gave a maximum LOD score of 4.78, with an approximate 2-LOD support interval from marker D7S512 to marker D7S684. (duke.edu)
Multipoint logarithm of odds (LOD) scores were calculated using parametric and nonparametric methods. (lu.se)

Mutation screening was carried out in the candidate gene by bi-directional sequencing of amplified products. (nih.gov)
Knowledge of which genes (when non-functional) cause which disorders will simplify diagnosis of patients and provide insights into the functional characteristics of the mutation. (wikipedia.org)
Coding regions of these genes are then sequenced until a mutation is discovered or another patient is discovered, in which case the analysis can be repeated, potentially narrowing down the region of interest. (wikipedia.org)
The differences between most disease gene identification procedures are in the second step (where DNA samples are analyzed and screened to determine regions in which the mutation could reside). (wikipedia.org)
Such a small population, possibly created by the founder effect, will have a limited gene pool, and thus any inherited disease will probably be a result of two copies of the same mutation segregating on the same haplotype. (wikipedia.org)
To our knowledge this is the first case of an initiation codon mutation in a human crystallin gene, and only the second report of a CRYBB1 mutation associated with autosomal recessive congenital cataracts. (molvis.org)
These results are consistent with previously published data suggesting that mutation of the antithrombin III structural gene is the cause of inherited antithrombin III deficiency in some families. (bmj.com)
G (His81Gln) mutation in the MPZ gene, which encodes the major integral membrane protein of the peripheral nerve system. (nih.gov)
These observations support a mutation in a basal keratin gene as causing both blistering and pigmentary disorders. (medscape.com)
METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
In lod score calculations, incomplete penetrance of the fra(X) mutation in males and females was taken into account by the computer program LIPED. (mcmaster.ca)
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)
A mutation at SLC6A3 is not causative for TS in the two large families that generated significant negative lod scores (if the parameters of our analyses were correct) and is unlikely to be causative in the family that generated a negative lod score that did not reach significance. (johnshopkins.edu)
Further molecular analysis at the DMD gene level, allowed us to identify in one family a point mutation at the first muscular exonintron boundary, abolishing the splicing of the muscular specific mRNA. (sissa.it)
LEOPARD syndrome may be caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene. (medscape.com)
[ 6 ] In one Bosnian family, five patients had the same recurrent mutation Y279C in the PTPN11 gene, but had different phenotypes and a variable expression of multiple lentigines. (medscape.com)

No variations in sequence were observed in the other 2 families, and negative lod scores excluded linkage to the PTPN11 locus, showing that LEOPARD syndrome is genetically heterogeneous. (medscape.com)

12- 17 However, there is still further allelic heterogeneity within this region as there are additional XLMR families published that map to Xq28 with a significant lod score but do not have abnormalities in any of these genes. (bmj.com)
The horizontal line above the y axis represents a significant LOD score of 0.05 (as determined by permuting the trait values). (jax.org)

By the genetic linkage analysis this study shows that the phenotype hyperlipidemia has possible candidate gene regions on chromosomes 2, 4, 8 and 17. (fu-berlin.de)
Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. (genome.gov)
Conclusions: Chromosomes 2p, 6q and 14q are candidate sites for genes contributing together to high breast cancer risk. (lu.se)

Inherited cataracts demonstrate extreme genetic heterogeneity, with more than 20 genes identified to date. (molvis.org)
Because these traits reflect more immediate effects of the gene in question, we may reduce the confounding effects of environmental factors and the disease genetic heterogeneity. (biomedcentral.com)

Haplotypes within a set of 17 starch biosynthesis/degradation genes were defined, and a particularly high level of haplotype variation was uncovered in the genes encoding sucrose synthase (types I and II) and starch synthase. (biomedcentral.com)
We report haplotyping data for 17 starch biosynthesis/degradation genes demonstrating the broad diversity among H. spontaneum accessions and H. vulgare landraces but rather limited genetic variance in the current elite breeding germplasm by fixing certain haplotypes. (biomedcentral.com)
Using polymorphic microsatellite markers, haplotypes and linkage analysis, the diseased phenotype in MSP001 family was mapped to the LTBP2 gene. (org.pk)

Using DNA probes in a structural study of the antithrombin III gene locus we found no evidence of gene deletion in two British kindreds with inherited antithrombin III deficiency. (bmj.com)
No prior knowledge of gene or gene effects is necessary, but the genetic locus must have sufficient impact on the disease susceptibility to be detectable. (scialert.net)
In 3 families with the fragile-X [fra(X)] syndrome, we have identified a minimum of 4 recombinations in 9 meioses between the syndrome locus and the coagulation Factor IX gene. (mcmaster.ca)
This indicates that the genetic distance between the Factor IX gene and the fra(X) locus is too great for Factor IX probes to be used alone for carrier detection in the fra(X) syndrome. (mcmaster.ca)
This is a set of genes whose expression values are associated with genotype at a common locus. (wisc.edu)
Recent genome-wide searches (GWS) have not revealed any single major locus reminiscent of BRCA1 and BRCA2, indicating that still unidentified genes may explain relatively few families each or interact in a way obscure to linkage analyses. (lu.se)
The data were investigated by maximization of lod scores over genetic models and by multiple-locus affected-sib-pair analysis. (ox.ac.uk)
Theoretical estimates of the power to map susceptibility genes with a high-resolution map of linked markers in a candidate region were made, using HLA as a model locus. (ox.ac.uk)
Power analysis at a LOD score of 3, gave 80% power to locate a single specific locus that accounts for 52% of the total phenotypic variation. (elsevierpure.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)
In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
This family could be an important resource for the identification of a multiple sclerosis susceptibility gene. (ox.ac.uk)
Our linkage scan results suggest that imprinted genes are unlikely to be involved in susceptibility to rheumatoid arthritis. (qxmd.com)
In addition to genes mapping to the major histocompatibility complex (MHC), several lines of evidence point to the existence of other genetic susceptibility factors. (ox.ac.uk)
This single family may be promising for narrowing the search for NTD susceptibility genes. (duke.edu)

Cumulative results show a lod score of -6.2 at θ = 0 and of -3.9 at θ = 0.05 (dominant model, narrow disease definition). (johnshopkins.edu)
Variance components analysis using the program ACT, correcting for proband-wise ascertainment, also showed evidence of linkage (p ≤0.05) at markers close to or within the candidate genes IL- 1α, PTHR1, IL-6, and COLIIA1/VDR. (ox.ac.uk)

Baraitser-Winter Syndrome (B-WS, OMIM #243310, #614583) is a rare, multiple-anomaly genetic disorder caused by mutations in either cytoplasmically expressed actin gene, ACTB (ß-actin) or ACTG1 (Î³-actin). (bvsalud.org)

The second data set was Problem 1 of GAW15, which included single-nucleotide polymorphism genotypes and gene expression data for Centre d'Etude du Polymorphisme Humain pedigrees. (qxmd.com)

Mutations in these genes can include single nucleotide substitutions, single nucleotide additions/deletions, deletion of the entire gene, and other genetic abnormalities. (wikipedia.org)

Linkage was determined by genotyping microsatellite makers and calculating logarithm of the odds (LOD) scores. (molvis.org)
A maximum two point Logarithm of the odds (LOD) score of 4.16 was obtained with marker D14S284 at θ =0. (org.pk)

In addition, this study demonstrated that the clinical phenotypes may be variable with different mutations at the same site in the MPZ gene. (nih.gov)
In collaboration with DeCode Genetics, we have been using gene array technology to separate different asthma phenotypes. (laeknabladid.is)
This is an illustration of permutation test: Click the green button to shuffle the phenotypes and re-draw the LOD curves. (wisc.edu)

Duplication of one or several of the genes within the 650 kb interval is likely to be responsible for the mental retardation phenotype seen in our patient. (bmj.com)
three different genes may cause the same phenotype). (tripod.com)
The LOD score is a measure of association between genotype and phenotype. (wisc.edu)
LOD scores are also colored to indicate the sign of the QTL effect, with red indicating that BB lines have larger phenotype values and blue indicating that AA lines have larger phenotype values. (wisc.edu)
When you hover over a point in the top-left plot, the LOD curves for the corresponding time are shown below, and the phenotype averages and estimated QTL effect (across time) for the corresponding genomic position are shown to the right. (wisc.edu)

One family contributed suggestive LOD scores (LOD 2.63 to 3.03, dominant model) at all these regions, without consistent evidence of a tumour suppressor gene. (lu.se)
Using the program MapMaker/Sibs there was suggestive evidence of linkage between BMD and PTHR1 (maximum LOD score obtained [MLS] 2.7-3.5). (ox.ac.uk)
Two families with suggestive X-linked mode of inheritance underwent linkage analysis which confirmed the association of the disease with the dystrophin gene. (sissa.it)
A maximal NPL LOD score of 3.15, suggestive of significant linkage, was identified at chr6q26 for nicotine withdrawal sensitivity. (sri.com)
An increased risk of relapse, suggestive linkage at chr6q26, and nominally significant association with multiple OPRM1 SNPs were found with Rasch-modeled nicotine withdrawal sensitivity scores in a multiplex smoking pedigree sample. (sri.com)

Analysis of the co-localized genome region has shown that the putative genes are involved in light and hormones and will facilitate peanut growth habit molecular breeding and study of peanut domestication. (frontiersin.org)
We examined variant-level genetic evidence (co-segregation with diabetes and frequency in population) for published putative pathogenic variants in these genes and used burden testing to test gene-level evidence in a MODY cohort (n=1227) compared to population control (UK Biobank, n=185,898). (medrxiv.org)

SNPs that regulate expression of these genes are candidates in the study of degenerative diseases, malignancy, infection and inflammation. (ox.ac.uk)
The expression of these genes were analyzed by qRT-PCR. (chinbullbotany.com)
It is speculated that the high expression of these genes is the reason of why tocopherol and tocotrienol in HZ are higher than in Nekken2. (chinbullbotany.com)

Haplotype analysis of the three families showed a minimal disease-gene region from D7S512 to D7S684, a distance of 11.1 cM and approximately 7.1 Mb. (duke.edu)
The high level of haplotype variation among starch biosynthesis/degradation genes in the progenitors of cultivated barley shows that domestication and breeding have greatly eroded their allelic diversity in current elite cultivars. (biomedcentral.com)

A high density SNP-based genome-wide linkage scan was performed, and causative mutations were determined by sequencing of candidate genes in the linkage disequilibrium region. (nih.gov)
MPZ is well known as a CMT-causative gene with wide phenotypic spectrum. (nih.gov)

To overcome the shortcomings of the candidate gene studies, investigators have applied a genome-wide linkage scan strategy in which regularly spaced markers are traced in families and sibling pairs for segregation with T2DM. (scialert.net)
Naegeli-Franceschetti-Jadassohn (NFJ) syndrome may be associated with a number of markers located in the vicinity of the type I keratin gene cluster on band 17q21. (medscape.com)
In contrast, a highly significant linkage was detected with a number of markers located in the vicinity of the type I keratin gene cluster on band 17q21, with maximum 2-lod scores of 4.16 and 3.717 for the markers D17S1787 and D17S1886, respectively. (medscape.com)
[ 4 ] The genetic defect appears to be a region of the gene encoding the KRT14 nonhelical head (E1/V1) domain located between the microsatellite markers D17S798 and D17S957, which are separated by approximately 26.97 cM. (medscape.com)
Combined analysis of additional members of this family (11 affected individuals) and of two unrelated families (one with 2 affected individuals and the other with 3 affected individuals), with 20 markers on 7q, showed a maximum two-point LOD score of 4.05 at marker D7S500. (duke.edu)
For selected markers and cases, tumour tissue was compared to normal tissue to look for allelic loss indicative of a tumour suppressor gene. (lu.se)
Since the candidate gene approach was unsuccessful, the map refinement of the region was carried out using new genetic markers which became available in the data banks. (sissa.it)

First, molecular events in T2DM pathogenesis have been examined directly by testing the role of sequence variants of specific candidate genes. (scialert.net)
The candidate gene approach focuses on the search for an association between T2DM and sequence variants in or near biologically defined candidate genes which have been chosen based on their known physiological function. (scialert.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)
Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant form of monogenic diabetes, reported to be caused by variants in 16 genes. (medrxiv.org)
Highly polymorphic regions (such as HLA genes) are not represented either due to difficulty with designing primers because of the lack of constant regions flanking the variants. (tripod.com)
All 232 individuals underwent anthropometric and biochemical investigations and genotyped for 14 known common gene variants of modest effect on T2D risk. (elsevierpure.com)
This model could successfully be applied for the future discovery, by deep sequencing, of rare gene variants. (elsevierpure.com)

This showed that the four known genes involved in non-syndromic mental retardation in Xq28, FMR2 , SLC6A8 , MECP2 , and GDI1 , were not involved in the translocation. (bmj.com)
Introduction: A significant proportion of high-risk breast cancer families are not explained by mutations in known genes. (lu.se)

We used three approaches to producing a univariate summary of the expression traits of individual genes in each group: a sample average, principal-components analysis (PCA), and linear discriminant analysis (LDA). (biomedcentral.com)
Data from these define genetic and non-genetic variation, define a measure of heritability for expression of individual genes, and provide the basis for a new method of data reduction for genetical genomics. (biomedcentral.com)

Xq28 appears to be an unstable region of the human genome and genomic rearrangements are recognised as major causes of two single gene defects, haemophilia A and incontinentia pigmenti, which map within Xq28. (bmj.com)
The top-left plot is a "heat map" of the LOD scores for each time point at each genomic position. (wisc.edu)
Genomic imprinting is a mechanism in which the expression of a gene copy depends upon the sex of the parent from which it was inherited. (qxmd.com)
However, little information has been gathered to date regarding the genomic location of drought-regulated genes, either expressed throughout plant development or at late reproductive stages influencing seed yield and quality. (biomedcentral.com)

If enough of the genome sequence is known, that region is searched for candidate genes. (wikipedia.org)
Without the aid of the whole-genome sequences, pre-genomics investigations looked at select regions of the genome, often with only minimal knowledge of the gene sequences they were looking at. (wikipedia.org)
With the advent of modern laboratory techniques such as High-throughput sequencing and software capable of genome-wide analysis, sequence acquisition has become increasingly less expensive and time-consuming, thus providing significant benefits to science in the form of more efficient disease gene identification techniques. (wikipedia.org)
Using a new and powerful technology in the form of a genome-wide chip that genotypes up to hundreds of thousands of SNPs, Genome-Wide Association Studies (GWAS) have recently led to the discovery of a group of novel genes that were reproducibly associated with T2DM risk. (scialert.net)
The presumed gene count of 100,000 for human genome drastically went down to around 20,000 after the completion of Human Genome Project. (tripod.com)
However, for expression level of TGFBR3 gene, we found a point-wise p-value of 0.03 for imprinting, but increase in the LOD score did not meet the required threshold to reliably identify imprinting as the correct mode of inheritance in genome-wide linkage scans. (qxmd.com)
A genome-wide association study of global gene expression. (ox.ac.uk)
We executed genome-wide association scans for these traits and found peak lod scores between 3.68 and 59.1. (ox.ac.uk)

The cumulative maximum lod score calculated from these data and from data previously reported was 2.75 at a recombination frequency of 20% (theta = 0.20). (mcmaster.ca)
A cumulative lod score value of 3.69 was obtained with the polymorphic marker D9S153. (sissa.it)

Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)
CONCLUSIONS: A strong association of autism with SNPs within the SLC25A12 gene was demonstrated. (neurotransmitter.net)

There are multiple major QTLs associated with the content of different conformations, and some V E biosynthesis genes are within the intervals, e.g. (chinbullbotany.com)
The number of QTLs and the scores of LOD are large, which provides a molecular basis for further screening and cultivating rice varieties with high V E content also conductive to clarify the molecular regulation mechanism of rice V E biosynthesis through QTLs. (chinbullbotany.com)

Subsequently, the candidate genes which map within the identified interval were analyzed. (sissa.it)

Prospective association analysis based on core drought-regulated genes may simplify the process of identifying favourable alleles, and help to understand the genetic basis of the response to terminal drought. (biomedcentral.com)

A maximum two-point lod score of 6.37 at theta=0.00 was obtained with marker D19S879. (nih.gov)
The lod score for linkage within the larger Scottish kindred was 3.1 (theta = 0). (bmj.com)

Cotton earliness-related QTLs and QTL coincidence regions will provide useful materials for QTL fine mapping, gene positional cloning and MAS. (biomedcentral.com)

In addition, although a number of genetic causes of autosomal dominant pulverulent cataracts have been identified (including CRYBB1 ) this is the first gene to have been implicated in autosomal recessive nuclear pulverulent cataract. (molvis.org)
Dominant" means that a single copy of the mutated gene (from one parent) is enough to cause the disorder. (genome.gov)
By contrast, an autosomal dominant disorder requires only a single copy of the mutated gene from one parent to cause the disorder. (genome.gov)

Two MYB transcription factor genes, GRMZM2G325907 and GRMZM2G108892, which might regulate plant cell wall metabolism are the candidate genes for qPH10 . (biomedcentral.com)
Using the inbred mouse as a model organism, QTL mapping has become a very important tool for finding the genes that regulate complex human diseases, including atherosclerosis, diabetes, obesity, asthma and hypertension. (jax.org)

Earlier studies using a candidate gene approach, family linkage studies and gene expression profiling uncovered a number of T2DM genes, but the genetic basis of common T2DM remained unknown. (scialert.net)

There is a strong history of type 2 diabetes in carriers of the disease gene. (diabetesjournals.org)
He has been instrumental in the discovery of multiple gene-disease associations for monogenic diabetes and hyperinsulinism. (exeter.ac.uk)

However, linkage analysis between a common DNA polymorphism and the antithrombin III deficiency trait showed that the defect lies at or close to the antithrombin III structural gene. (bmj.com)
We have created a global map of the effects of polymorphism on gene expression in 400 children from families recruited through a proband with asthma. (ox.ac.uk)

We performed gene-agnostic screening of the non-coding regions to discover new molecular causes of congenital hyperinsulinism. (exeter.ac.uk)
Molecular studies have proven that LEOPARD syndrome and Noonan syndrome are allelic disorders caused by different missense mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at band 12q24.1. (medscape.com)

A polygenic model is supported, suggesting the joint effect of genes in contributing to breast cancer risk to be rather common in non-BRCA1/2 families. (lu.se)

In the past two decades, QTL analyses have identified well over 2000 QTL associated with such diseases, 1,2,3 and the genes underlying these QTL are being identified at a faster pace than ever. (jax.org)
Joint linkage and imprinting analyses of GAW15 rheumatoid arthritis and gene expression data. (qxmd.com)

Subsequently good candidate genes were screened for mutations by direct sequencing. (molvis.org)

Disease gene identification is a process by which scientists identify the mutant genotypes responsible for an inherited genetic disorder. (wikipedia.org)
The advent of modern-day high-throughput sequencing technologies combined with insights provided from the growing field of genomics is resulting in more rapid disease gene identification, thus allowing scientists to identify more complex mutations. (wikipedia.org)
Disease gene identification techniques often follow the same overall procedure. (wikipedia.org)
Provided that all individuals are affected with the same disease resulting from a manifestation of a deletion of a single copy of the same gene, all individuals will contain one region where their control sample is heterozygous but the mutant sample is homozygous - this region will contain the disease gene. (wikipedia.org)
This is then repeated for multiple families, thus generating a small, overlapping fragment, which theoretically contains the disease gene. (wikipedia.org)
Homozygous blocks in the genomes of affected individuals can then be laid on top of each other, and the overlapping region should contain the disease gene. (wikipedia.org)

We first grouped mRNA transcripts according to their functions annotated in biological process of gene ontology (GO). (biomedcentral.com)
The most highly heritable traits were markedly enriched in Gene Ontology descriptors for response to unfolded protein (chaperonins and heat shock proteins), regulation of progression through the cell cycle, RNA processing, DNA repair, immune responses and apoptosis. (ox.ac.uk)

7 LTBP2 expression pattern in the anterior segment of the eyes and reports regarding identification of pathogenic mutations of LTBP2 gene in the primary congenital glaucoma (PCG), 7 Weill-Marchesani syndrome (WMS) and Marfan syndrome5 patients demonstrate LTBP2 involvement in different eye disorders. (org.pk)

Future research is needed to develop rigorous methods in mapping of genes affecting the expression of a group of transcripts. (biomedcentral.com)
To avoid confusion between the genes we are trying to map and the genes whose expression levels are used as traits, we will call the expression levels "traits" of "transcripts", as we will talk about functions of the transcripts. (biomedcentral.com)
As of the July 2013, the total number of genes (including pseudogenes and non-coding RNA genes) is around 58,000 with the total number of transcripts reaching almost 200,000 ( Gencode ). (tripod.com)

Ein maximaler LOD-Score von 4,20 wurde für die Marker D7S471 und D7S501 erzielt. (uni-wuerzburg.de)
When gender was used as a covariate, a LOD score of 5.4 was computed with the peak marker being positioned at rs13478727, 43.8 Mbp. (jax.org)

A SNP association with a trait is usually attributed to the changes in the activity of the gene where the SNP is located. (tripod.com)

this finding indicates that the gene for NFJ syndrome is not located in the epidermal differentiation complex, the type II keratin cluster, or the desmosomal cadherin cluster, respectively. (medscape.com)

Importantly, this has revealed a new disease mechanism for non-coding mutations that cause inappropriate expression of a disallowed gene. (exeter.ac.uk)

Exacerbated Grip84/cg7716-linked developmental aberration versus single mutations strongly suggests interactive or coinciding gene functions. (bvsalud.org)

By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from each parent) to cause the disorder. (genome.gov)

Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds. (bmj.com)

It is thought that QTL genes are key regulators of interacting biochemical pathways, 3,4 and thus may be potential targets for therapeutic intervention. (jax.org)

Anatomy26

Diseases13

Chemicals and Drugs3

Analytical, Diagnostic and Therapeutic Techniques and Equipment13

Psychiatry and Psychology5

Phenomena and Processes56

Anthropology, Education, Sociology and Social Phenomena4

Information Science2

Named Groups4

Health Care9

Geographicals3

Chromosome22

Loci9

Humans3

Multipoint4

Mutation17

Negative lod scores1

Significant lod score2

Chromosomes3

Heterogeneity2

Haplotypes3

Locus9

Susceptibility6

0.052

Caused by mutations1

Single nucleotide p1

Abnormalities1

Logarithm2

Phenotypes3

Phenotype5

Suggestive5

Putative2

Expression of these genes3

Haplotype2

Causative2

Markers7

Variants7

Known genes2

Individual genes2

Genomic4

Genome8

Cumulative2

SNPs2

Biosynthesis2

Interval were analyzed1

Alleles1

Theta2

Positional1

Dominant3

Regulate2

Candidate gene approach1

Diabetes2

Polymorphism2

Molecular2

Polygenic1

Analyses2

Subsequently1

Disease gene6

Ontology2

Pathogenic1

Transcripts3

Marker2

Trait1

Syndrome1

Mutations that cause1

Functions1

Autosomal1

Kindreds1

Regulators1