Locus chromosomes. Medical search. Frequent questions

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)
Genes Chromosomes Cancer;57(3): 140-149, 2018 03. (bvsalud.org)
The region on Chromosome 17 provides a compelling target within which to identify novel genes underlying CAD. (ox.ac.uk)
Tumor susceptibility is an inherited, polygenic trait in SWR females, minimally involving an oncogenic Granulosa cell tumor susceptibility (Gct) locus on chromosome (Chr) 4 (Gct1), and two GC tumor susceptibility modifier genes mapped to distinct regions of Chr X (Gct4 and Gct6). (jax.org)
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)
Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
Chromosome 7 likely contains 900 to 1,000 genes that provide instructions for making proteins. (medlineplus.gov)
Some individuals with FOXP2 -related speech and language disorder have a deletion that removes a small segment of chromosome 7, including the FOXP2 gene and several neighboring genes. (medlineplus.gov)
Additional features that are sometimes associated with FOXP2 -related speech and language disorder, including delayed motor development and autism spectrum disorders, likely result from changes to other genes on chromosome 7. (medlineplus.gov)
For example, in affected individuals with a deletion involving chromosome 7, a loss of FOXP2 is thought to disrupt speech and language development, while the loss of nearby genes accounts for other signs and symptoms. (medlineplus.gov)
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)
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)

Co-localization of major quantitative trait loci for pod size and weight to a 3.7 cM interval on chromosome A05 in cultivated peanut (Arachis hypogaea L. (icrisat.org)
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)
Interaction between blood pressure quantitative trait loci in rats in which trait variation at chromosome 1 is conditional upon a specific allele at chromosome 10. (mcw.edu)

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)
To prove the existence of an epistatic interaction we have analyzed congenic strains for chromosome 1 and 10 carrying high blood pressure QTL alleles from the spontaneously hypertensive rat on a normotensive background of the Wistar-Kyoto (WKY) rat. (mcw.edu)
Additionally, a double congenic strain was developed with both chromosome 1 and 10 high blood pressure QTL alleles on the WKY background. (mcw.edu)

We undertook a genomewide linkage screen of a large family with ADPHSP, for which linkage at all previously identified ADPHSP loci was excluded. (nih.gov)
All three methods of analysis identified a strong linkage signal for SWE on chromosome 13q. (nih.gov)
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)
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)
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)
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)
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)
To date, linkage analysis has identified nine RLS loci, but no specific causative gene has been reported. (ucc.ie)
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)
In a first study, involving a genome-wide linkage screen, tentative loci were mapped to Chromosomes 3 and 11 with the CAD phenotype (1,464 ASPs), and to Chromosome 17 with the MI phenotype (739 ASPs). (ox.ac.uk)
To our knowledge, this is the first genome-wide linkage analysis to map, and replicate, a CAD locus. (ox.ac.uk)
The disorder was tested for linkage to known 14 adRP and 22 arRP loci using microsatellite markers. (iisc.ac.in)
Linkage to an autosomal recessive locus RP28 on chromosome 2p14-p15 was positive with a maximum two-point lod score of 3.96 at theta=0 for D2S380. (iisc.ac.in)
Conclusions: The present data confirmed linkage of arRP to the RP28 locus in a second Indian family. (iisc.ac.in)
Strong linkage was observed with markers located on Chromosome (Chr) 12, in a 2-cM interval between D12Mit136 and D12Mit153. (pasteur.fr)
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)

In an F2 cross with C57BL/6, the phenotype could not be associated with a single locus. (pasteur.fr)

Analysis of markers on chromosome 19q gave a peak pairwise LOD score of 3.72 at D19S420, allowing assignment of a novel ADPHSP locus (which we have termed "SPG12") to this region. (nih.gov)
Haplotype construction and analysis of recombination events narrowed the SPG12 locus to a 16.1-cM region between markers D19S868 and D19S902. (nih.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)
Colorectal cancer susceptibility loci as predictive markers of rectal cancer prognosis after surgery. (bvsalud.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)

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)

Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. (bmj.com)
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)
Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17. (ox.ac.uk)
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)
11 SNPs exceeded genome-wide significance with the strongest association with rs12913832 SNP on chromosome 15, mapping to HERC2 gene (p=6.94x10-14). (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)
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)
We took advantage of the robust paternal effect with a recombinant male progeny testing strategy to resolve the Gct4 locus interval to 1.345 million base (Mb) pairs. (jax.org)
A novel autosomal recessive NSHI locus, DFNB44, was mapped to a 20.9 cM genetic interval on chromosome 7p14.1-q11.22, according to the Marshfield genetic map, in a consanguineous Pakistani family. (elsevierpure.com)

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)
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)

Previously, we have found evidence that the presence of a blood pressure quantitative trait locus (QTL) on chromosome 1 is conditional upon the allele status of chromosome 10. (mcw.edu)
The Pluridigite phenotype thus results from the combination of a Twist mutant allele and at least two additional loci. (pasteur.fr)

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)
Based on a previous GWAS study, 14 DA associated loci and flanking regions were selected for NGS (6,996,180 base pairs). (cdc.gov)

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)

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)

We examined single nucleotide polymorphisms (SNPs) at the 3q25.31 locus associated with newborn adiposity. (asoi.info)
We focused on SNPs within or near TACR1/LOC105374811 (chromosome 2) and CTNNA3/DNAJC12 (chromosome 10). (cdc.gov)

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)
Less commonly, FOXP2 -related speech and language disorder results from a rearrangement of the structure of chromosome 7 (such as a translocation) or from inheriting two copies of chromosome 7 from the mother instead of one from each parent (a phenomenon called maternal uniparental disomy or maternal UPD, which is described in more detail with Russell-Silver syndrome, below). (medlineplus.gov)
In some cases, Greig cephalopolysyndactyly syndrome results from a rearrangement (translocation) of genetic material between chromosome 7 and another chromosome. (medlineplus.gov)
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)

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 results demonstrated that methylation abnormalities of multiple imprinted loci occurred in 35% of the cases, but that they were associated with either chromosome aberrations or normal chromosome profiles. (sequentiabiotech.com)

Chromatin Insulator Elements Block Transgene Silencing in Engineered hESC Lines at a Defined Chromosome 13 Locus. (ca.gov)

The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 7. (medlineplus.gov)
These chromosomal changes involve a region of the short (p) arm of chromosome 7 that contains the GLI3 gene. (medlineplus.gov)

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)

7q11.23 duplication syndrome, a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities, results from an extra copy of a region on the long (q) arm of chromosome 7. (medlineplus.gov)
Abnormalities of chromosome 7 are responsible for some cases of Greig cephalopolysyndactyly syndrome, a disorder that affects development of the limbs, head, and face. (medlineplus.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)

The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). (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)

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)

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)

[4] Before this happens, each chromosome is duplicated ( S phase ), and both copies are joined by a centromere , resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. (wikipedia.org)

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)
A similar effect on spikelet number was detected in the distal region of chromosome 1AL in common wheat (T. aestivum L. (cas.cz)
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)
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)
These changes involve a region of the long (q) arm of chromosome 7 containing the FOXP2 gene. (medlineplus.gov)

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)

Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. (bvsalud.org)

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)

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)
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)

We found that two of the loci most strongly linked with colorectal cancer (CRC) risk , 8q24 ( upstream of MYC) and 18q21 (in the intron of SMAD7), as well as 20q13 (in the intron of LAMA5), are tightly associated with the prognosis of rectal cancer patients . (bvsalud.org)

Chromosome X loci and spontaneous granulosa cell tumor development in " by Ann M Dorward, Edward S Yaskowiak et al. (jax.org)
Chromosome X loci and spontaneous granulosa cell tumor development in SWR mice: epigenetics and epistasis at work for an ovarian phenotype. (jax.org)
Dorward A, Yaskowiak E, Smith K, Stanford K, Shultz KL, Beamer W. Chromosome X loci and spontaneous granulosa cell tumor development in SWR mice: epigenetics and epistasis at work for an ovarian phenotype. (jax.org)

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)

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)

We previously localized a Quantitative Trait Locus for HPFH in an extensive Asian-Indian kindred to chromosome 6q23. (biomedcentral.com)

[5] In animal cells, chromosomes reach their highest compaction level in anaphase during chromosome segregation . (wikipedia.org)

Two copies of chromosome 7, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
It remains unclear how having two maternal copies of chromosome 7 affects the activity of the FOXP2 gene. (medlineplus.gov)

[1] [2] These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation . (wikipedia.org)

Anatomy64

Organisms12

Diseases23

Chemicals and Drugs27

Analytical, Diagnostic and Therapeutic Techniques and Equipment25

Psychiatry and Psychology1

Phenomena and Processes176

Disciplines and Occupations3

Technology, Industry, Agriculture3

Information Science4

Health Care3

Genes20

Quantitative trai3

ALLELES3

Linkage16

Single locus1

Markers8

Susceptibility Locus1

Mapping5

Interval6

Human2

ALLELE2

GWAS3

Gene locus1

Recombination events1

SNPs2

Translocation5

Previously mapped2

Sequences2

Aberrations1

Transgene1

Chromosomal2

Autosomal dominant2

Fetal1

Abnormalities2

QTLs1

Causative1

FOXF12

Probes1

Genome1

Centromere1

Region7

Inheritance4

Dyslexia1

Onset1

Homologous9

Cancer1

Tumor3

Humans1

Amplification2

Trait1

Segregation1

Copies2

Significant1