Locus chromosome mapping. Medical search. Frequent questions

Short tandem repeat polymorphisms (STRPs) and single strand conformational polymorphisms (SSCPs) were identified in YACs, cosmids, and genes within the BBS2 interval and ordered using both genetic and physical mapping data. (bgu.ac.il)
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 region on Chromosome 17 provides a compelling target within which to identify novel genes underlying CAD. (ox.ac.uk)
Exclusion of two candidate genes, Spnb-2 and Dcd, for the wobbler spinal muscular atrophy gene on proximal mouse chromosome 11. (uni-bielefeld.de)
Linkage disequilibrium (LD) analysis has been promoted as a method of mapping disease genes, particularly in isolated populations, but has not yet been used for genome-screening studies of complex disorders. (umn.edu)
The results also support previously reported possible localizations (obtained from a separate collection of patients) of BP-I-susceptibility genes at two distinct sites on this chromosome. (umn.edu)
however, only two disease-causing genes, SOS1 and REST , inducing HGF have been identified at two loci, GINGF1 and GINGF5, respectively. (nature.com)
Here, based on a family pedigree with 26 members, including nine patients with HGF, we identified double heterozygous pathogenic mutations in the ZNF513 (c.C748T, p.R250W) and KIF3C (c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. (nature.com)
16 Among these loci, "son of sevenless homologue 1" ( SOS1 , OMIM 182530) and "RE1 silencing transcription factor" ( REST , OMIM 600571), which are HGF-related pathogenic genes, have been identified as associated with GINGF1 and GINGF5, respectively. (nature.com)
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)
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)
In contrast, interactions between genes and the environment cannot usually be studied using conventional mapping populations in which each animal is unique. (nervenet.org)
Based on a dataset encompassing more than 500 Dobermanns, the disease was associated with two nearby genomic loci, where changes were identified in genes that affect the functioning, energy metabolism and structure of the heart muscle. (news-medical.net)
Among the numerous genes in the loci, two, namely RNF207 and PRKAA2, demonstrated structural variation, which could have a detrimental effect on the functioning of the genes and cause heart failure. (news-medical.net)
Searching that area on Chromosome for possible candidate genes, we identified Spondin 1 as candidate. (cdc.gov)
Using RNA-Seq-guided gene predictions, we find that most mating and meiosis genes are conserved and that clades contain either the MTLa or MTLalpha mating loci. (cdc.gov)

Quantitative trait locus (QTL) mapping locates and estimates the effect of genetic loci that regulate quantitative traits. (jax.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)

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)

A number of families with rare pleiotropic obesity syndromes have been studied by linkage analysis and chromosomal loci for Cohen's syndrome, 8 Alström's syndrome, 9 and at least four for Bardet-Biedl syndrome 10-12 have been mapped so far, although the precise molecular defects are not yet known. (bmj.com)

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)

Common variants in UMOD have also been demonstrated in large genome-wide association studies (GWAS) to confer independent risk for both hypertension and kidney disease illustrating the shared risk for both phenotypes within this locus (see the GWAS in Nephrology team description for more). (medscape.com)

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)
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 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)
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)
Forty-eight patients with BP-I were genotyped for markers spaced at ~6-cM intervals across chromosome 18. (umn.edu)
117 autosomal markers and 6 markers on the X chromosome were screened. (jax.org)
Genetic markers on chromosome 15 were excluded due to proximity to the Sox10 mutation. (jax.org)
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)
A set of 490 markers that were typed in all constituent RI sets were used as anchor loci to assemble high-resolution framework maps. (nervenet.org)
Specific markers on chromosome 19 were found in some families with hemiplegic migraine. (medscape.com)

To date, linkage analysis has identified nine RLS loci, but no specific causative gene has been reported. (ucc.ie)
To our knowledge, this is the first genome-wide linkage analysis to map, and replicate, a CAD locus. (ox.ac.uk)
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)

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)

The Mouse Phenome Database (MPD) is particularly useful for helping investigators select the most appropriate strains to cross in a QTL mapping project. (jax.org)
Recombinant inbred (RI) strains of mice are an important resource used to map and analyze complex traits. (nervenet.org)
The final consensus maps are based on 1578 microsatellite loci and these maps have a cumulative length of approximately 1400 cM after adjustment for recombination frequencies of RI strains. (nervenet.org)
Genomes of individuals strains typically incorporate 45-55 recombinations between parental chromosomes. (nervenet.org)
We provide two-locus correlograms that can be used to detect and correct for non-syntenic association and to reduce error rates in QTL mapping studies that exploit RI strains. (nervenet.org)
Recombinant inbred (RI) strains have been used to map a wide range of Mendelian loci and quantitative traits (Taylor, 1989). (nervenet.org)
Recently, RI strains have also been used to map QTLs that that are responsible for biometric variation in the architecture of the mouse CNS (Belknap et al. (nervenet.org)
A third advantage of RI strains is that genotypes generated by different groups using a variety of methods can be pooled to generate high-density linkage maps. (nervenet.org)
Whooping cough (pertussis), primarily caused by Bordetella pertussis, has resurged in the United States, and circulating strains exhibit considerable chromosome structural fluidity in the form of rearrangement and deletion. (cdc.gov)
The C57BL/6J (B6) and DBA/2J (D2) inbred strains of mice exhibit an age-related hearing loss (AHL) due to a recessive gene (Ahl) that maps to Chromosome 10. (cdc.gov)
The present study demonstrates segregation for the putative Ahl gene and mapping of such a gene to Chromosome 10, consistent with other independent mapping of Ahl for AHL in 10 strains of mice [Johnson et al. (cdc.gov)

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)

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)
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)

Linkage studies in bipolar disorder (BPD) suggest that a susceptibility locus exists on chromosome 18p11. (lww.com)

Special treatment of the X chromosome was utilized in this analysis to account for sex chromosome segregation behavior. (jax.org)

The 3-unit support interval ranged from marker D7S2209 to marker D7S2435, spanning a 30.1 Mb region on the sequence-based physical map. (elsevierpure.com)
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)
2. Composite interval mapping was performed using WinQTLCartographer ver. (usda.gov)

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)
A genetic locus is a specific position on a chromosome where a gene or genetic marker is located. (usda.gov)

Association mapping has highlighted a further four genomic areas of interest. (ucc.ie)

Current limitations of LD screening for identifying loci for complex traits are discussed, and recommendations are made for future research with these methods. (umn.edu)

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)

With the recent advances in molecular genetics and the availability of genetic maps, we have witnessed the emergence of genomics into clinical veterinary practice. (vin.com)

In this study, this precise mapping information was used to characterize the effect of the Eps-A(m)1 region on both duration of different developmental phases and spikelet number. (cas.cz)
Another QTL identified was on Chromosome Gm18, in a region which has been demonstrated to provide SCN and SDS resistance in many studies (rhg1/Rfs2). (usda.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)
The pituitary adenylate cyclase-activating polypeptide/adenylate cyclase-activating polypeptide 1 (pituitary) ( PACAP/ADCYAP1 ) gene maps to this region. (lww.com)
The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)
These studies all provided strong evidence of a susceptibility region in chromosome 15, with an extremely consistent measure of effect between the studies (Fig 1). (who.int)

This locus has previously been identified as a modifier of Sox10 Dom . (jax.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)

Genetic loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have been mapped to chromosomes 2p, 8q, 12q, 14q, and 15q. (nih.gov)

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)
Quantitative trait loci analyses (log of the odds=15) indicated association of the genetic factor within a few centiMorgan of the best evidence for Ahl [Johnson et al. (cdc.gov)

We mapped 2148 loci from 919 EST clones onto group 7 chromosomes of wheat . (bvsalud.org)

Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17. (ox.ac.uk)
Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease. (jax.org)

Three quantitative trait loci (QTL) were identified across multiple years and/or populations. (usda.gov)
QTL mapping in humans is difficult, time consuming, expensive, hampered by ethical problems and compromised by populations that are too small, too genetically diverse and subject to uncontrollable environments. (jax.org)

We studied chromosome structure in complete genome sequences from 167 Bordetella species isolates, as well as 469 B. pertussis isolates, to gain a generalized understanding of rearrangement patterns among these related pathogens. (cdc.gov)

Haplotype analysis, linkage disequilibrium, and homozygosity mapping indicated that HLA-DQ/DR is the major IGAD1 locus, and suggest the autoimmune pathogenesis of IgAD/CVID. (lu.se)

Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. (nih.gov)
Il s'agit de la première série de cas du syndrome de Sanjad-Sakati confirmés génétiquement en Jordanie. (who.int)

The purpose of this study is to fine-map and further define the chromosome 16q13 BBS locus (BBS2). (bgu.ac.il)
This study provides evidence of a novel RLS locus and provides further evidence that RLS is a genetically heterogenous disorder. (ucc.ie)
Chromosome 18 was chosen because a previous genome-screening linkage study of two Costa Rican families had suggested a BP-I locus on this chromosome. (umn.edu)
Results of the current study suggest that LD methods will be useful for mapping BP-I in a larger sample. (umn.edu)
The resulting chromosome structural fluidity presents both challenges and opportunity for the study of Bordetella respiratory pathogens.IMPORTANCE Bordetella pertussis is the primary agent of whooping cough (pertussis). (cdc.gov)
In this study, we analyze chromosome structure variation in several Bordetella species to gain a generalized understanding of rearrangement patterns in this genus. (cdc.gov)

The gene for human PF4 is located on human chromosome 4 . (wikidoc.org)
To map the mechanisms of aggressiveness we aimed to investigate changes in protein phosphorylation across WHO grades of human meningiomas. (nature.com)

Here, we analyze near complete genome assemblies for the four C. auris clades and three related species, and map intra- and inter-species rearrangements across the seven chromosomes. (cdc.gov)

Resolving the Pathogenesis of Anaplastic Wilms Tumors through Spatial Mapping of Cancer Cell Evolution. (lu.se)

240 copies of IS481, IS elements appear less numerous in other species and yield less chromosome structural diversity through rearrangement. (cdc.gov)
The chromosome of B. pertussis has previously been shown to exhibit considerable structural rearrangement, but insufficient data have prevented comparable investigation in related species. (cdc.gov)

A chromosome bin map of 2148 expressed sequence tag loci of wheat homoeologous group 7. (bvsalud.org)
Identification of landmark ESTs and development of consensus maps may provide a framework of conserved coding regions predating the evolution of wheat genomes . (bvsalud.org)

Ednrb (Sox10m1) at 54 cM on mouse Chromosome 14 showed significant linkage to aganglionosis (LOD=13.8) and total affected gut length (LOD=13.7). (jax.org)

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)
An additional 49 probes that mapped to 7AS, 7DS, and the ancestral translocated segment involving 7BS also were designated landmarks. (bvsalud.org)

Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. (bmj.com)

A modifier of Sox10 Dom mapped to 15 cM - 23 cM on mouse Chromosome 5 and is designated Agln1(Sox10m3) (aganglionosis modifier 1). (jax.org)
Agln2(Sox10m2) (aganglionosis modifier 2) mapped to 80 cM on mouse Chromosome 3. (jax.org)
Agln3 (Sox10m4)(aganglionosis modifier 3) mapped to 4 cM on mouse Chromosome 8 with LOD=6.3 for aganglionosis and LOD=7.1 for total affected gut length. (jax.org)
Agln4 (Sox10m5)(aganglionosis modifier 4) mapped to 42 cM on mouse Chromosome 11 with LOD=6.9 for aganglionosis and LOD=6.9 for total affected gut length. (jax.org)
Strong linkage to gut length was detected at 22 cM on mouse Chromosome 5 (LOD=6.31). (jax.org)
Linkage to gut length in females mapped to 48 cM on mouse Chromosome 18 (LOD=3.54). (jax.org)
Suggestive linkage to gut length mapped to 57 cM on mouse Chromosome X (LOD=3.33). (jax.org)
The increased role of QTL mapping and favored status of the inbred mouse in that role, are due to the improvement and development of genetic research tools (many of them pioneered by The Jackson Laboratory) to manipulate the mouse genome. (jax.org)
Most QTL have been mapped in model organisms such as the mouse and the rat. (jax.org)
In addition, powerful databases like the Mouse Genome Informatics (MGI) database, the JAX® Mice database and the Mouse Phenome Database - all maintained at The Jackson Laboratory - are constantly improving to facilitate QTL mapping in the mouse. (jax.org)

Note to the Reader Please cite this work as: Williams RW, Gu J, Qi S, Lu L (2001) The genetic structure of recombinant inbred mice: High-resolution consensus maps for complex trait analysis. (nervenet.org)

Whole genome scan of the 19 autosomes and X chromosome was performed on (C57BL/6J-Sox10 Dom x C3H/HeJ)F2 intercross animals using single nucleotide polymorphisms (SNPs) spaced ~18 cM apart. (jax.org)
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)

Here, we characterize the relationship of the DYX2 locus with RD, LI, and IQ. (springer.com)

As part of an NCI-led initiative to fol ow- chromosomes 5 and 15 up on results from GWA studies of cancer, the TRICL consortium was established and started work in 2010. (who.int)

Anatomy55

Organisms6

Diseases20

Chemicals and Drugs21

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Psychiatry and Psychology1

Phenomena and Processes150

Disciplines and Occupations3

Technology, Industry, Agriculture1

Information Science4

Health Care1

Genes16

QUANTITATIVE TRAIT2

Susceptibility loci1

Chromosomal loci1

Distal3

Phenotypes1

Markers13

Linkage analysis3

Gene locus1

Strains11

Autosomal recessive1

Recombination events2

Bipolar disorder1

Segregation1

Interval3

Marker2

Genomic1

Complex traits1

Phenotype1

Genetics1

Region6

Previously been identified1

Triticum1

Hereditary1

Analyses2

Clones1

Identifies2

Populations2

Sequences1

Disequilibrium1

Syndrome2

Study6

Human2

Analyze1

Pathogenesis1

Rearrangement2

Wheat2

Significant1

Probes2

Physical1

Mouse10

Analysis1

Scan2

Characterize1

Results1