• Genetic studies have repeatedly implicated the DYX2 locus, specifically the genes DCDC2 and KIAA0319 , in RD, with recent studies suggesting they also influence LI, verbal language, and cognition. (springer.com)
  • We have narrowed the interval containing the gene causing BBS on chromosome 16 to a 1.5 Mb interval and are analyzing trapped exons as possible candidate genes for BBS. (bgu.ac.il)
  • The human β-globin locus is composed of five genes located on a short region of chromosome 11, responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Haemoglobin. (wikipedia.org)
  • Expression of all of these genes is controlled by single locus control region (LCR), and the genes are differentially expressed throughout development. (wikipedia.org)
  • When chromosome profiles were affected, these alterations were extended to flanking cancer driver genes. (sequentiabiotech.com)
  • The region on Chromosome 17 provides a compelling target within which to identify novel genes underlying CAD. (ox.ac.uk)
  • The genetic susceptibility locus in RPS9/LILRB3 lies within the leukocyte receptor complex gene cluster on chromosome 19q13.4, and the disease risk variant in this locus correlates with reduced expression of multiple genes including the inhibitory leukocyte immunoglobulin-like receptor gene LILRB3 (P = 2.29 × 10 -8 ). (johnshopkins.edu)
  • Further study needs to be done to test which of these genes is mutated in patients with RP linked to the RP28 locus. (iisc.ac.in)
  • Exclusion of two candidate genes, Spnb-2 and Dcd, for the wobbler spinal muscular atrophy gene on proximal mouse chromosome 11. (uni-bielefeld.de)
  • Based on these data and on already published data, the implicated genes at all three GWAS loci are promising candidates for EA/TEF development. (lu.se)
  • In conclusion, the results of our study contribute to a better understanding on the underlying genetic architecture of ET/TEF with the identification of three risk loci and candidate genes. (lu.se)
  • Searching that area on Chromosome for possible candidate genes, we identified Spondin 1 as candidate. (cdc.gov)
  • To resolve phylogenetic relationships among ries of bacterial clonal complexes by using concatenated isolates, we sequenced 68 isolates from Europe and North sequences of housekeeping genes when within-loci and America at 1 chromosomal locus (16S-23S ribosomal RNA between-loci recombinations are infrequent ( 5 ). (cdc.gov)
  • A minimum of 29 genes contribute to collagen protein structure, and these genes are located on 15 different human chromosomes, genetically coding for no less than 19 identifiable forms of collagen molecules. (medscape.com)
  • Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17. (ox.ac.uk)
  • Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p. (ox.ac.uk)
  • Genome-wide association studies have identified a region on chromosome 9p that is associated with coronary artery disease (CAD). (ox.ac.uk)
  • We here investigated overlap at the genome-wide level and in individual loci between depression, coronary artery disease and cardiovascular risk factors. (plos.org)
  • We used the bivariate causal mixture model (MiXeR) to quantify genome-wide polygenic overlap and the conditional/conjunctional false discovery rate (pleioFDR) method to identify shared loci, based on genome-wide association study summary statistics on depression (n = 450,619), coronary artery disease (n = 502,713) and nine cardiovascular risk factors (n = 204,402-776,078). (plos.org)
  • ConjFDR identified 79 unique loci associated with depression and coronary artery disease or cardiovascular risk factors. (plos.org)
  • Loci associated with increased risk for depression were also associated with increased risk of coronary artery disease and higher total cholesterol, low-density lipoprotein and c-reactive protein levels, while there was a mixed pattern of effect direction for the other risk factors. (plos.org)
  • Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13. (ox.ac.uk)
  • Here we show that three of these SNPs, mapping to chromosome 10p15 (rs4750316), 12q13 (rs1678542) and 22q13 (rs3218253), are also associated (trend P = 4 x 10(-5), P = 4 x 10(-4) and P = 4 x 10(-4), respectively) in a validation study of 4,106 individuals with rheumatoid arthritis and an expanded reference group of 11,238 subjects, confirming them as true susceptibility loci in individuals of European ancestry. (ox.ac.uk)
  • The PROCARDIS study recruited 2,658 affected sibling pairs (ASPs) with onset of CAD before age 66 y from four European countries to map susceptibility loci for CAD. (ox.ac.uk)
  • Genotyping data were subjected to rigorous quality control measures and subsequently analyzed to discover genetic susceptibility loci for Takayasu arteritis. (johnshopkins.edu)
  • Results We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10 -9 ), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10 -8 ), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10 -10 ). (johnshopkins.edu)
  • Conclusion Our findings indicate novel genetic susceptibility loci for Takayasu arteritis and uncover potentially important aspects of the pathophysiology of this form of vasculitis. (johnshopkins.edu)
  • Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. (bvsalud.org)
  • Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. (bmj.com)
  • In this context, we developed a recombinant inbred line (RIL) mapping population (Yuanza 9102 × Xuzhou 68-4) with 195 individuals and used to map quantitative trait loci (QTLs) associated with three important pod features, namely pod length, pod width and hundred-pod weight. (icrisat.org)
  • We have identified chromosomes with a xi 2-xi 1 rather than a xi 2-psi xi 1 arrangement by genomic mapping and oligonucleotide analysis. (ox.ac.uk)
  • Genetic linkage between SLS and several microsatellite markers, OarJMP8, McM214, OarJMP12, and BL1038, was detected, thereby mapping the SLS locus to the telomeric end of ovine Chromosome (Chr) 6. (illinois.edu)
  • Genetic loci were functionally annotated using FUnctional Mapping and Annotation (FUMA). (plos.org)
  • We then performed genome-wide mapping of the IL1beta results and found a significant marker (quantitative trait locus) on distal chromosome 7. (cdc.gov)
  • CytoTest FISH probes are manufactured with genomic DNA obtained either from microdissected human chromosomes or cloned DNA fragments, depending on the probe type. (cambio.co.uk)
  • A similar effect on spikelet number was detected in the distal region of chromosome 1AL in common wheat (T. aestivum L. (cas.cz)
  • In the majority of cases the numbers of loci were significantly lower in the centromeric regions and tended to increase in the distal regions. (bvsalud.org)
  • The level of duplicated loci in this group was 24% with most of these loci being localized toward the distal regions. (bvsalud.org)
  • Using SNP data to impute alleles at classic HLA loci, we have conducted an integrated analysis of HL risk within the HLA region in 582 early-onset HL cases and 4736 controls. (ox.ac.uk)
  • Recombination within the human embryonic xi-globin locus: a common xi-xi chromosome produced by gene conversion of the psi xi gene. (ox.ac.uk)
  • Significant linkage was found on chromosome 19p for a series of microsatellite markers, with a maximum two-point LOD score of 3.59 at θ = 0.0 for marker D19S878. (ucc.ie)
  • The disorder was tested for linkage to known 14 adRP and 22 arRP loci using microsatellite markers. (iisc.ac.in)
  • Our results suggest that the transient reduction in inter-allelic distance and increase in pairing frequency of homologous loci after DSB result in partial chromatin reorganisation of interphase nuclei and that AtRAD54 contributes to the subcellular movement of homologous loci in the HR repair pathway. (nature.com)
  • The high resolution fine-map of the BBS2 locus facilitated the narrowing of the disease gene locus to a 1.5 Mb region. (bgu.ac.il)
  • We examined single nucleotide polymorphisms (SNPs) at the 3q25.31 locus associated with newborn adiposity. (asoi.info)
  • Haplotype construction and analysis of recombination events narrowed the SPG12 locus to a 16.1-cM region between markers D19S868 and D19S902. (nih.gov)
  • Experiments using NILs homozygous for chromosomes with recombination events within the 0.8 cM Eps-A(m)1 region showed that the differences in number of spikelets per spike were linked to the differences in heading time controlled by the Eps-A(m)1 locus. (cas.cz)
  • Recombination events, identified by haplotype analysis, define a genetic region of 6.57 cM on chromosome 19p13.3, corresponding to an interval of 2.5 Mb. (ucc.ie)
  • To accomplish this, we developed a marker panel densely covering the 1.4 Mb DYX2 locus and assessed association with reading, language, and IQ measures in subjects from the Avon Longitudinal Study of Parents and Children. (springer.com)
  • Genetic linkage analysis with marker loci indicated the major locus for eosinophilia was located at the end of the q arm region of Chromosome 19 (between D19Rat8 and telomere). (mcw.edu)
  • A genetic locus is a specific position on a chromosome where a gene or genetic marker is located. (usda.gov)
  • The major site for mutations leading to autosomal dominant polycystic kidney disease (ADPKD) is at the PKD1 locus, previously mapped to 16p13. (ox.ac.uk)
  • The RP28 locus was previously mapped to a 16 cM region between D2S1337 and D2S286 in a single Indian family. (iisc.ac.in)
  • The dual strategy of utilizing insulator sequences and integration at the constitutive chromosome 13 locus ensures appropriate transgene expression. (ca.gov)
  • The genetic homogeneity of ospC -A isolates was confi rmed agent, Borrelia burgdorferi , a spirochete that parasitizes by sequences at 6 additional chromosomal housekeeping vertebrates, is transmitted by hard-bodied ticks through- loci ( gap, alr, glpA, xylB, ackA, and tgt ). (cdc.gov)
  • The earliness per se locus Eps-A(m)1 was recently mapped within a 0.8 cM interval on chromosome 1A(m)L of diploid wheat Triticum monococcum L., and it was shown that its effect was modulated by temperature. (cas.cz)
  • Three major QTLs, detected in at least three environments, were found to be co-localized to a 3.7 cM interval on chromosome A05, and they were qPLA05.7 for pod length (16.89-27.84% PVE), qPWA05.5 for pod width (13.73-14.12% PVE), and qHPWA05.6 for hundred-pod weight (13.75-26.82% PVE). (icrisat.org)
  • Conclusions This study identified three major consistent and stable QTLs for pod size and weight which were co-localized in a 3.7 cM interval on chromosome A05. (icrisat.org)
  • Chromatin Insulator Elements Block Transgene Silencing in Engineered hESC Lines at a Defined Chromosome 13 Locus. (ca.gov)
  • In an initial genomewide scan, we genotyped a total of 416 markers (398 autosomal, 18 X-chromosome) with an average spacing of less than 10 cM, spanning the genome. (rti.org)
  • An additional 14 markers were genotyped in a high-density panel to follow-up on an identified region of interest on chromosome 11p. (rti.org)
  • There is now evidence supporting linkage or association of chromosome 11 markers with alcohol dependence, illegal drug abuse and dependence, and cigarette smoking. (rti.org)
  • In a second study, these loci were examined with a dense panel of grid-tightening markers in an independent set of families (1,194 CAD and 344 MI ASPs). (ox.ac.uk)
  • Three additional probes have now been mapped within an existing array of genetic markers flanking this locus. (ox.ac.uk)
  • Two large pedigrees segregating for the SLS mutation were established, and a genome scan with genetic markers from previously published genome maps of cattle and sheep was used to map the locus causing SLS. (illinois.edu)
  • Landmark probe orders and comparative maps of wheat , rice , and barley were produced on the basis of corresponding rice BAC/PAC and genetic markers that mapped on chromosomes 6 and 8 of rice . (bvsalud.org)
  • Genetic loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have been mapped to chromosomes 2p, 8q, 12q, 14q, and 15q. (nih.gov)
  • Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16. (ox.ac.uk)
  • The 3q25.31 locus strongly associated with newborn adiposity had no significant association with childhood adiposity suggesting that its impact may largely be limited to fetal fat accretion. (asoi.info)
  • To facilitate evolutionary and forensic studies of DNA polymorphisms on the Y chromosome, we devised a multiplex amplification procedure for short-tandemrepeat (STR) loci. (ku.edu)
  • Censored locus caused by poor amplification success. (cdc.gov)
  • Results QTL analysis using the phenotyping data generated across four environments in two locations and genotyping data on 743 mapped loci identified 15 QTLs for pod length, 11 QTLs for pod width and 16 QTLs for hundred-pod weight. (icrisat.org)
  • Chromosomes are normally visible under a light microscope only during the metaphase of cell division (where all chromosomes are aligned in the center of the cell in their condensed form). (wikipedia.org)
  • During metaphase the X-shaped structure is called a metaphase chromosome, which is highly condensed and thus easiest to distinguish and study. (wikipedia.org)
  • MCMC oligogenic SA identified three models of transmission for WID, which could be assigned to two distinct linkage peaks on chromosomes 12 and 15. (nih.gov)
  • The chromosome 9 region we identified as possibly linked to cigarette smoking in anxiety families, was previously identified as significantly linked to PD in Icelandic pedigrees. (rti.org)
  • Multiple Hodgkin lymphoma-associated loci within the HLA region at chromosome 6p21.3. (ox.ac.uk)
  • These data suggest that multiple independent loci within the HLA class II region contribute to the risk of developing early-onset HL. (ox.ac.uk)
  • Somatic cell hybrids containing derivative chromosome 16s were used to construct a physical map of the region. (ox.ac.uk)
  • Cosmid overlap cloning of the D16S84 region allowed a t(16;1) translocation breakpoint to be mapped at the molecular level, orientating the extended D16S84 locus with respect to the chromosome. (ox.ac.uk)
  • Haplotype analysis in this family has further narrowed the MCR for the RP28 locus to a 1.06 cM region between D2S2225 and D2S296. (iisc.ac.in)
  • To date, linkage analysis has identified nine RLS loci, but no specific causative gene has been reported. (ucc.ie)
  • The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). (bvsalud.org)
  • We also offer a very wide range of chromosome painting probes from Cytotest™ which whole chromosomes, chromosome arms and terminal bands, sub-telomeric probes, chromosome counting probes, locus probes and oncology probes. (cambio.co.uk)
  • One hundred nineteen EST probes that hybridized to three fragments and mapped to the three group 7 chromosomes were designated landmark probes and were used to construct a consensus homoeologous group 7 map. (bvsalud.org)
  • The diagnosis of ACD is based on histopathological evaluation of lung biopsy or autopsy tissue or genetic testing of FOXF1 on chromosome 16q24.1. (researchgate.net)
  • FOXF1 on chromosome 16q24.1. (researchgate.net)
  • Previous genome-wide association studies (GWAS) demonstrated strong association of a locus on chromosome 3 (3q25.31) with newborn sum of skinfolds, a measure of overall adiposity. (asoi.info)
  • This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. (lu.se)
  • Taken together, these results indicate a locus for efficiency and accuracy of RWR on chromosome 13, and a complex model for inheritance of RWR accuracy with loci on chromosomes 12 and 15. (nih.gov)
  • Walter Sutton (left) and Theodor Boveri (right) independently developed the chromosome theory of inheritance in 1902. (wikipedia.org)
  • Aided by the rediscovery at the start of the 1900s of Gregor Mendel 's earlier work, Boveri was able to point out the connection between the rules of inheritance and the behaviour of the chromosomes. (wikipedia.org)
  • In his famous textbook The Cell in Development and Heredity , Wilson linked together the independent work of Boveri and Sutton (both around 1902) by naming the chromosome theory of inheritance the Boveri-Sutton chromosome theory (the names are sometimes reversed). (wikipedia.org)
  • It was revealed that homologous loci kept a constant distance in nuclei of A. thaliana roots in general growth. (nature.com)
  • We also found that DNA double-strand breaks (DSBs) induce the approach of the homologous loci with γ-irradiation. (nature.com)
  • Furthermore, AtRAD54, which performs an important role in the homologous recombination repair pathway, was involved in the pairing of homologous loci with γ-irradiation. (nature.com)
  • These results suggest that homologous loci approach each other to repair DSBs and AtRAD54 mediates these phenomena. (nature.com)
  • Here, we examined chromatin dynamics and arrangement in living roots of A. thaliana with DNA damage, focusing our attention on the distance between homologous loci using the lacO /LacI-EGFP system. (nature.com)
  • We revealed that the homologous loci kept a constant three-dimensional distance in the nucleus using live-cell imaging with a bacterial operator/repressor system. (nature.com)
  • Moreover, the distance between two homologous loci in the interphase nucleus was shortened by γ-irradiation, which induces DNA double-strand breaks (DSBs). (nature.com)
  • We found that AtRAD54, which performs an important role in the homologous recombination (HR) repair pathway, was involved in the approach of two homologous loci under γ-irradiation. (nature.com)
  • Most cases of MCL are associated with chromosome translocation t(11;14)(q13;q32). (medscape.com)
  • This translocation involves the immunoglobulin heavy-chain gene on chromosome 14 and the BCL1 locus on chromosome 11. (medscape.com)
  • Our findings support the notion that the major anxiety disorders, including phobias and panic disorder, are complex traits that share at least one susceptibility locus. (qxmd.com)
  • Identification of the gene causing BBS on chromosome 16 could aid in the identification of the other BBS loci and could help in the understanding of RP and polygenic disorders such as obesity and hypertension. (bgu.ac.il)
  • A large antisense non-coding RNA gene (ANRIL) collocates with the high-risk haplotype, is expressed in tissues and cell types that are affected by atherosclerosis and is a prime candidate gene for the chromosome 9p CAD locus. (ox.ac.uk)
  • A chromosome bin map of 2148 expressed sequence tag loci of wheat homoeologous group 7. (bvsalud.org)
  • The objectives of this study were to develop a high-density chromosome bin map of homoeologous group 7 in hexaploid wheat ( Triticum aestivum L.), to identify gene distribution in these chromosomes , and to perform comparative studies of wheat with rice and barley . (bvsalud.org)
  • We mapped 2148 loci from 919 EST clones onto group 7 chromosomes of wheat . (bvsalud.org)
  • A weaker signal for SWE on chromosome 2q occurred in the same location as a significant linkage peak seen previously in a scan for phonological decoding. (nih.gov)
  • We completed a genomewide linkage scan to map loci increasing risk for cigarette smoking in a set of families originally identified because they segregate panic disorder (PD). (rti.org)
  • To our knowledge, this is the first genome-wide linkage analysis to map, and replicate, a CAD locus. (ox.ac.uk)
  • [1] [2] These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation . (wikipedia.org)
  • We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. (lu.se)
  • However, the LD structure of the locus suggests that associations within TDP2 , ACOT13 , and C6orf62 are capturing a previously reported risk variant in KIAA0319 . (springer.com)
  • Conclusions: We identified evidence for two loci increasing risk for cigarette smoking that map to chromosomes 9 and 11. (rti.org)