Deletion chromosome mapping. Medical search. Frequent questions

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 1 likely contains 2,000 to 2,100 genes that provide instructions for making proteins. (medlineplus.gov)
Researchers have identified several possible tumor suppressor genes in the deleted region of chromosome 1, and more research is needed to understand what role these genes play in neuroblastoma development. (medlineplus.gov)
Mutations in these genes can include single nucleotide substitutions, single nucleotide additions/deletions, deletion of the entire gene, and other genetic abnormalities. (wikipedia.org)
An analysis of microarray gene expression profiling data available for ACC shows several genes with significant transcriptional downregulation that map to these areas of genetic deletion. (nih.gov)
Analysis of the gene space of 5DS suggested an increasing gradient of genes organized in islands towards the telomere, with the highest gene density of 5.17 genes/Mb in the 0.67-0.78 deletion bin, 1.4 to 1.6 times that of all other bins. (biomedcentral.com)
In order to improve cultivated wheat, genes and traits of agricultural importance need to be positioned accurately on chromosomes and closely linked markers identified to allow rapid selection in breeding programs. (usda.gov)
This is a pre-requistied to complete sequencing of this chromosomes and identifying the important genes that can be used to improve modern wheat cultivars. (usda.gov)
His current work is focused on two broad goals: (1) mapping variants and genes that confer risk to human disease, with ongoing projects focused on coronary artery disease and cardiometabolic traits in unique and underrepresented populations, and (2) developing methods for the detection and interpretation of human genome variation, with an emphasis on structural variation and other difficult-to-detect forms, and on comprehensive trait association in human disease studies. (yale.edu)
Medical researchers have shown that HSP can be caused by mutations to a number of various genes, many of which have been mapped to specific chromosomes. (disabled-world.com)
A number of these genes have been mapped to specific locations on different chromosomes. (disabled-world.com)
The cnr gene of S. typhimurium positively hybridized with DNA at 13 min on the E. coli chromosome where the nfsB and nfnB genes of E. coli are mapped. (unboundmedicine.com)
These results suggest that the cnr gene of S. typhimurium is a counterpart of the nfsB and nfnB genes of E. coli, and that the newly constructed cnr-deletion strains are useful to assess the role of nitroreductases in the metabolic activation of mutagenic nitro compounds. (unboundmedicine.com)
This map will facilitate identification of genes and exploration of QTL for plant architecture in maize. (biomedcentral.com)
Prader-Willi syndrome (PWS) is caused by a loss of genes normally expressed only from the paternal chromosome 15. (fpwr.org)
Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder caused by lack of inherited genes from fathers on chromosome 15. (fpwr.org)
At Stellenbosch University the leaf and stripe rust resistance genes Lr54 and Yr37 were transferred from Aegilops kotschyi to chromosome 2DL of wheat. (sun.ac.za)
Genes and Chromosomes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic. (msdmanuals.com)
The potential for understanding human genetics increased greatly when the scientists behind the Human Genome Project successfully identified and mapped all the genes on human chromosomes in 2003. (msdmanuals.com)

7- 9 All reported mutations are single nucleotide alterations leading to splice site, missense, nonsense, or frameshift mutations, or intra-exonic deletions and insertions of up to four nucleotides, which have been detected through exonic PCR amplifications and sequencing. (bmj.com)
There can be deletions, insertions, missense or nonmutations, and so on that lead to clinical phenotype. (medscape.com)
Most large genomes contain thousands of large structural variants (SVs), repetitive regions composed of identical or similar stretches of sequences, mobile elements such as transposons, large insertions, deletions, translocations, and inversions up to millions of bases, with even partial or entire chromosomes altered. (mdanderson.org)

These deletions are somatic mutations, which means they occur during a person's lifetime and are present only in the cells that become cancerous. (medlineplus.gov)
The presence of inactivating mutations, together with the deletion of the normal copy of the ATM gene in some patients with T-PLL, B-CLL, and MCL, establishes somatic inactivation of the ATM gene in the pathogenesis of lymphoid malignancies, and strongly suggests that ATM functions as a tumour suppressor. (bmj.com)
Angelman syndrome (AS) is an epileptic encephalopathy with microcephaly, absent speech, ataxia, and inappropriate laughter mapped to chromosome 15q11 and ascribed to deletion, uniparental disomy, and mutations of either the imprinting centre or the UBE3A gene. (bmj.com)
MECP2 mutations in females included missense (R106W) or nonsense mutations (R255X, R270X) or frameshift deletion (803delG), which involved either the methyl binding domain or the transcription repression domain of the protein (table 2 ). (bmj.com)
We previously characterized the cystinosis gene, CTNS, and identified pathogenic mutations in patients with infantile nephropathic cystinosis, including a common, approximately 65 kb deletion which encompasses exons 1-10. (embl.de)
Out of 25 patients with infantile nephropathic cystinosis, 12 have two severely truncating mutations, which is consistent with a loss of functional protein, and 13 have missense or in-frame deletions, which would result in disruption of transmembrane domains and loss of protein function. (embl.de)
The features of modern dog breeds that increase the ease of mapping common diseases, such as reduced heterogeneity and extensive linkage disequilibrium, may also increase the difficulty associated with fine mapping and identifying causative mutations. (upenn.edu)
When patients with heterozygous deletion of 13q14.3 were analysed for mutation of either clone 1 or 2:2, the majority did not have mutations demonstrated within the retained allele. (ucl.ac.uk)

In five cases with p16 gene deletion, homozygous deletion was detected. (iiarjournals.org)
Loss of function of the p16 gene has been reported to occur mainly by homozygous deletion, mutation or aberrant DNA methylation of the promoter of the region ( 5 - 8 ). (iiarjournals.org)
Sequence analysis revealed that all affected dogs share a homozygous deletion of 7.8 kb in the NHEJ1 gene. (upenn.edu)
All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. (who.int)

rather, they are most often located on different chromosomes or far apart on the same chromosome. (biorxiv.org)

The genetics of chromosome pairing and meiotic recombination is complicated by the allopolyploid nature of many crops, a widespread feature in the plant kingdom 3 . (nature.com)

1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. (medlineplus.gov)

Our method of genotyping deletions on chromosome 7B relied on a model-based clustering algorithm (Mclust) to accurately predict the presence or absence of a given genomic sequence in a deletion line. (usda.gov)
This information is based on mapping of SMART genomic protein database to KEGG orthologous groups. (embl.de)
The aim of the work described in this thesis was to define the region of minimal deletion at chromosome 13q14.3 in our patients with B-cell CLL and to then isolate and characterise candidate tumour suppressor gene cDNAs from this genomic region. (ucl.ac.uk)
The exons of clone 1 span a genomic distance of over 450kb with exons 2, 3 and 4 lying within our minimal region of deletion. (ucl.ac.uk)

The AT locus was mapped to the chromosomal region 11q22-23 using genetic linkage analysis in the late 1980s and the causative gene was identified by positional cloning several years later. (bmj.com)
To identify the disease locus we carried out a genomewide linkage search using an early access version of the GeneChip Mapping 10K Xba Array. (diabetesjournals.org)
We found that the locus D17S829 was homozygously deleted in 23 out of 70 patients, and identified a novel gene, CTNS, which mapped to the deletion interval. (embl.de)
The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
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)

Only 61 (0.06%) of the markers displayed identifiable non-Mendelian transmission and neither of the two males typed were assigned a heterozygous state for any of the 178 single nucleotide polymorphisms (SNPs) mapping to the X chromosome. (diabetesjournals.org)

WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. (embl.de)
Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4 (4p16.3). (embl.de)
Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. (medscape.com)
A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. (medscape.com)
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. (medscape.com)
Wolf-Hirschhorn syndrome results from the deletion of the distal short arm of chromosome 4. (medscape.com)
Most phenotypic manifestations in this syndrome reflect a contiguous gene syndrome, leading to a phenotypic map of chromosome arm 4p. (medscape.com)
The former Pitt-Rogers-Danks syndromes, caused by overlapping 4p deletions, are now considered to be a part of Wolf-Hirschhorn syndrome. (medscape.com)
Three different categories of the Wolf-Hirschhorn syndrome phenotype are defined and generally correlate with the extent of the 4p deletion. (medscape.com)
The second and far more frequent category is identified by large deletions that average 5-18 Mb and cause the widely recognizable Wolf-Hirschhorn syndrome phenotype. (medscape.com)
The third clinical category results from a very large deletion that exceeds 22-25 Mb, causing a severe phenotype that can hardly be defined as typical Wolf-Hirschhorn syndrome. (medscape.com)
Prenatal mortality rate of Wolf-Hirschhorn syndrome is not significantly augmented because 4p deletions are not reported as an increase in spontaneous abortions. (medscape.com)
Il s'agit de la première série de cas du syndrome de Sanjad-Sakati confirmés génétiquement en Jordanie. (who.int)
Down Syndrome (Trisomy 21) Down syndrome is a chromosome disorder caused by an extra chromosome 21 that results in intellectual disability and physical abnormalities. (msdmanuals.com)
Down syndrome is caused by an extra chromosome 21. (msdmanuals.com)
Turner Syndrome Turner syndrome is a sex chromosome abnormality in which girls are born with one of their two X chromosomes partially or completely missing. (msdmanuals.com)
Turner syndrome is caused by the deletion of part. (msdmanuals.com)

The nature of the protein motifs, the expression pattern and its mapping to the critical region led us to propose WHSC1 as a good candidate gene to be responsible for many of the phenotypic features of WHS. (embl.de)
Examination of the phenotypic impact of network perturbation across 14 environmental conditions using deletion mutant data from the baker's yeast Saccharomyces cerevisiae suggests that fitness in diverse environments is impacted by orthologous gene neighborhood and connectivity. (biorxiv.org)
This deletion may affect plant phenotypic characteristics and a strategy to replace the deleted region in recombinant #74 is proposed. (sun.ac.za)
A large deletion several megabases (Mb) in length, easily detected using conventional chromosome analysis, is usually associated with severe phenotypic expression, including multiple malformations. (medscape.com)

The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 1. (medlineplus.gov)
1q21.1 microdeletion is a chromosomal change in which a small piece of the long (q) arm of chromosome 1 is deleted in each cell. (medlineplus.gov)
Even within the group 6 bins, rice chromosomal blocks identified by 1-6 wheat ESTs were homologous to up to 11 rice chromosomes . (bvsalud.org)
[ 1 ] They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. (medscape.com)

Materials and Methods: To investigate both the presence of numerical abnormalities of chromosome 9 and p16 gene alterations in ovarian cancer, we studied 28 cases by the fluorescence in situ hybridization (FISH) technique using a DNA p16 probe and an a-satellite probe specific for chromosome 9. (iiarjournals.org)
Ten putative translocation recombinants were identified following the screening of 159 hemizygous testcross F1 plants with three microsatellite markers specific for chromosome arm 2DL. (sun.ac.za)

We have utilized 31 DNA probes which map to the WAGR deletion region, together with six reference loci and 13 WAGR-related deletions, to subdivide this area into 16 intervals. (johnshopkins.edu)
Delineation, by specific probes, of multiple intervals above and below the critical region and of five intervals within the overlap area provides a framework map for molecular characterization of WAGR gene loci and of deletion boundary regions. (johnshopkins.edu)
In wheat, a complex allohexaploid that has a diploid-like behaviour, meiotic recombination between homoeologous or alien chromosomes is suppressed through the action of several loci. (nature.com)
Genetic and cytogenetic studies have revealed the presence of several pairing homoeologous ( Ph ) loci that ensure wheat behaves as a diploid during meiosis, with only homologous chromosomes of the same sub-genome (AA, BB or DD) pairing and recombining. (nature.com)
While H does not occur in a chromosome region that corresponds with the location of Rht8, it does not rule out the possibility that they could be orthologous loci. (sun.ac.za)
Of the 5154 restriction fragments detected by 882 ESTs , 2043 (loci) were localized to group 6 chromosomes and 806 were mapped on other chromosome groups. (bvsalud.org)
The number of loci mapped was greatest on chromosome 6B and least on 6D. (bvsalud.org)
The 264 ESTs that detected orthologous loci on all three homoeologs using one restriction enzyme were used to construct a consensus physical map. (bvsalud.org)

Analysis of the irradiation-mutant ph2a in comparison to the syntenic region on rice chromosome 1 estimated the deletion to be at least 80 Mb in size 22 , but more likely to span a 120 to 125 Mb region 23 on the terminal portion of 3DS. (nature.com)
Ordering of 80 contigs along the deletion bins of chromosome arm 5DS revealed small-scale breaks in syntenic blocks. (biomedcentral.com)

Identity by descent (IBD) mapping generally uses single nucleotide polymorphism (SNP) arrays to survey known polymorphic sites throughout the genome of affected individuals and their parents and/or siblings, both affected and unaffected. (wikipedia.org)
The construction of BAC-based physical maps of individual chromosomes reduces the complexity of this allohexaploid genome, enables elucidation of gene space and evolutionary relationships, provides tools for map-based cloning, and serves as a framework for reference sequencing efforts. (biomedcentral.com)
Here, we provide a chromosome-specific view into the organization and evolution of the D genome of bread wheat, in comparison to one of its ancestors, revealing recent genome rearrangements. (biomedcentral.com)
In the absence of a finished quality genome sequence, insights into wheat genome structure and function have been accumulating through survey sequencing of individual chromosomes or chromosome-specific Bacterial Artificial Chromosome (BAC) libraries. (biomedcentral.com)
Bread wheat (Triticum aestivum L.) has a large, complex and highly repetitive genome which is challenging to assemble into high quality pseudo-chromosomes. (usda.gov)
As part of the international effort to sequence the hexaploid bread wheat genome by the international wheat genome sequencing consortium (IWGSC) we are focused on assembling a reference sequence for chromosome 7B. (usda.gov)
Optical Genome Mapping is non-sequencing technology capable of analyzing large eukaryotic genomes and their structural features at a high resolution by evaluation of patterns generated by fluorophore tags labeled to specific sequence motifs within extremely long DNA molecules, of more than 300 kb (3, 4). (mdanderson.org)
View the service pricing schedule for more information about Optical Genome Mapping pricing. (mdanderson.org)
Bionano Optical Genome Mapping directly observes structural variations by linearizing and imaging DNA in its native state using massively parallel Nano-Channels. (mdanderson.org)
One copy of the human genome contains about 3 billion nucleotides, which are distributed among 23 chromosomes. (genome.gov)
Insertion/deletion variants reflect extra or missing DNA nucleotides in the genome, respectively, and typically involve fewer than 50 nucleotides. (genome.gov)
Our results demonstrated a relatively high degree of collinearity between the genetic map and the B73 reference genome. (biomedcentral.com)

An extremely complex form of SVs called chromothripsis, in which dozens to hundreds of breakpoints on one or more chromosomes are involved, was originally reported in different types of cancers as well as in germlines genomes causing developmental and neuronal disorders. (mdanderson.org)
Both of these copy number adjustable regions are separated by way of a correspond and repeat to two SDs each with >99.5% identity where the breakpoints from the recurrent 2 Mbp deletions had been originally forecasted to take place3. (sciencepop.org)
The 882 ESTs were physically mapped to 25 regions (bins) flanked by 23 deletion breakpoints. (bvsalud.org)

2001) found that more than 99.5% of disease alleles causing familial dysautonomia (223900) in Ashkenazi Jewish individuals carried a donor splice site mutation (IVS20+6T-C) which leads to deletion of exon 20 from mRNA. (coriell.org)

Molecular and functional mapping of the piebald deletion complex on mouse chromosome 14. (jax.org)
However, the low density of molecular markers in existing genetic maps has limited the efficiency and accuracy of QTL mapping. (biomedcentral.com)
In addition three microsatellite markers that mapped to recombinant #74 provided a useful recessive molecular marker system to detect Lr54/Yr37. (sun.ac.za)
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. (medscape.com)

The physical map of 5DS was comprised of 164 contigs, of which 45 were organized into 21 supercontigs, covering 176 Mb with an N50 value of 2,173 kb. (biomedcentral.com)
A total of 3,671 sequence contigs and scaffolds were mapped to deletion bins on wheat chromosome 7B providing a foundation for developing high-resolution integrated physical map for this chromosome. (usda.gov)
Chinese spring deletion lines, a total of 3,671 sequence contigs and scaffolds (~7.8 % of chromosome 7B physical length) were mapped into nine deletion bins. (usda.gov)
Validation of the bin mapping results suggested a high accuracy of the assignment of 7B sequence contigs and scaffolds to the 7B deletion bins. (usda.gov)

ZIP4 is a ZMM protein involved in homologous recombination and may act as a hub through physical interactions with components of the chromosome axis and other ZMMs 19 . (nature.com)

Homozygosity/Autozygosity mapping is a powerful technique, but is only valid when searching for a mutation segregating within a small, closed population. (wikipedia.org)
Some people with IAHSP experience a deletion mutation in their ALS2 gene, located on the long arm of chromosome 2 at 2q33.2. (disabled-world.com)
The reason for the observed defective assembly in E. coli is probably not some unidentified mutation in the plasmid DNA because the same plasmid preparation complemented a B. subtilis sdhCAB deletion strain [7]. (lu.se)

The physical distribution of ESTs was uneven on chromosomes with a tendency toward higher densities in the distal halves of chromosome arms . (bvsalud.org)

Evaluation of the 10 recombinants with four 2DS-specific microsatellite markers revealed a large deletion of this chromosome arm in recombinant #74. (sun.ac.za)

In this study, we constructed the first comprehensive physical map of wheat chromosome arm 5DS, thereby exploring its gene space organization and evolution. (biomedcentral.com)
Deletion mapping of homoeologous group 6-specific wheat expressed sequence tags. (bvsalud.org)
To localize wheat ( Triticum aestivum L.) ESTs on chromosomes , 882 homoeologous group 6-specific ESTs were identified by physically mapping 7965 singletons from 37 cDNA libraries on 146 chromosome , arm , and sub- arm aneuploid and deletion stocks. (bvsalud.org)

In all cases, the p16 gene deletion was observed. (iiarjournals.org)
Conclusion: Numerical aberrations of chromosome 9 and p16 gene deletion are common findings in ovarian cancer. (iiarjournals.org)
Among the methods used for cytogenetic evaluation was the FISH technique for p16 gene deletion. (iiarjournals.org)

Three markers (D12S1713, D12S2196, D12S398) are contiguous and define a 6.84 Mb region of deletion at 12q13.11-q13.13. (nih.gov)
Two other markers (D12S2078, D12S1628) are also contiguous and define a 4.5 Mb region of deletion at 12q24.32-q24.33. (nih.gov)
Using further cDNA library screening techniques and RACE PCR to characterise this cDNA, a second candidate tumour suppressor gene cDNA was also isolated from the region of deletion. (ucl.ac.uk)
The third exon of this clone also lies within our minimal region of deletion. (ucl.ac.uk)

As a result, Bionano mapping yields hundreds of times more contiguous assembly than sequencing technologies alone can provide with unparalleled sensitivity for large structural variations (SVs) from 500 bp to mega base pair lengths. (mdanderson.org)

Some SVs, such as deletions and duplications, change the dosage of DNA and are considered copy number variations (CNVs). (mdanderson.org)

The stripe rust resistance gene (Yr37) was mapped by screening hemizygous TF2 progeny of the 10 recombinants with Puccinia striiformis pathotype 6E22A+. (sun.ac.za)

Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs) and representing approximately 8 percent of the total DNA in cells. (medlineplus.gov)
Costantini M, Clay O, Auletta F, Bernardi G. (2006) An isochore map of human chromosomes . (szn.it)
This article on a gene on human chromosome 9 is a stub . (wikidoc.org)
On the other hand duplicate number expresses for CNP�� range between 5-12 with 72% of human beings displaying a diploid duplicate amount of 8 with four Emtricitabine of the copies mapping somewhere else on chromosome 15. (sciencepop.org)

G-banded karyotype showing deletion of 4p, derived from the mother, with balanced translocation (4p;8p). (medscape.com)

Results: Numerical abnormalities of chromosome 9 were found in all studied cases. (iiarjournals.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)
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)
The vast majority of cases are sporadic, but rare familial forms have allowed the disease gene to be mapped to chromosome Xq28. (bmj.com)

The aim of the present study was to determine the significance of this tumor suppressor gene for ovarian tumorigenesis, investigating both numerical aberrations of chromosome 9 and p16 gene alterations in 28 cases of ovarian tumors, by the fluorescence in situ hybridization (FISH) technique. (iiarjournals.org)
Almost every chromosome is affected by numeric or structural aberrations. (neurotransmitter.net)

Two isoforms are encoded by transcript variants of this gene.In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. (prosci-inc.com)
Insertion/deletion variants are less frequent than SNVs but can sometimes have a larger impact on health and disease (e.g., by disrupting the function of a gene that encodes an important protein). (genome.gov)
One of the most common types of insertion/deletion variants are tandem repeats (also known as microsatellites). (genome.gov)

Deletion of the terminal band (4p16.3) is essential for full expression of the phenotype. (medscape.com)

It is linked to the TBCE gene on chromosome 1q42-43 which encodes for the tubulin-specific chaperone E protein [2-4]. (who.int)

a) PCR-based amplification of randomly selected bin mapped sequences (b) comparison with previously mapped ESTs and (c) comparison with a 7B genetic map developed in the present study. (usda.gov)
Fifty-eight percent of these ESTs were present on rice chromosome 2 and the remaining were on other rice chromosomes . (bvsalud.org)

In addition to microsatellite markers, RAPDs, RGAs, AFLPs and SCAR markers were genetically mapped to the translocation and further resolved the recombinants into three size categories. (sun.ac.za)
Other changes in chromosome 4 can involve a ring structure or translocation. (medscape.com)

The three remaining markers, D12S1056 at 12q14.1, D12S1051 at 12q23.1 and D12S1636 at 12q23.3 define smaller regions of deletion. (nih.gov)
In this study a method of accurately placing thousands of markers onto chromosome intervals was evaluated. (usda.gov)
A high-density genetic map was constructed using 4183 bin markers (100-Kb intervals with no recombination events). (biomedcentral.com)
The total genetic distance covered by the linkage map was 1545.65 cM and the average distance between adjacent markers was 0.37 cM with a physical distance of about 0.51 Mb. (biomedcentral.com)
Using known markers from the area, a physical map was constructed of the deleted region. (ucl.ac.uk)
52% of our patients were shown to have deletion of 13q14.3 when tested by Southern blotting techniques for loss of markers from this region. (ucl.ac.uk)

Here, an ultra-high density accurate linkage map for a set of maize RILs was constructed using a GBS strategy. (biomedcentral.com)
The first genetic linkage map of maize was constructed in 1986 based on restriction fragment length polymorphisms (RFLP) in the F 2 mapping population of a cross between H427 and 761 [ 7 ]. (biomedcentral.com)

A region of shared homozygosity on chromosome 10p13-p12.1 was identified in the three affected individuals. (diabetesjournals.org)

The WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) region has been assigned to chromosome 11p13 on the basis of overlapping constitutional deletions found in affected individuals. (johnshopkins.edu)
Factors involved in prediction of prognosis include the extent of the deletion, the occurrence of complex chromosome anomalies, and the severity of seizures. (medscape.com)

We then use the multibreed approach to fine-map Collie eye anomaly (cea), a complex disorder of ocular development that was initially mapped to a 3.9-cM region on canine chromosome 37. (upenn.edu)

The creation of ultra-high density genetic maps using large populations of advanced recombinant inbred lines (RILs) is an efficient way to identify QTL for complex agronomic traits. (biomedcentral.com)
Such an evaluation needs to be done under commercial growing conditions and should involve the comparison of near-isogenic bulks with and without recombinant chromosome #74. (sun.ac.za)

Interestingly, pQTL10, which influences all three of these traits, was stably detected in three environments on chromosome 10 within an interval of 14.6 Mb. (biomedcentral.com)

To aid the integration of these two types of maps, we have constructed a high-density deletion bin map of chromosome 7B. (usda.gov)
Plant architecture attributes, such as plant height, ear height, and internode number, have played an important role in the historical increases in grain yield, lodging resistance, and biomass in maize ( Zea mays L . ). Analyzing the genetic basis of variation in plant architecture using high density QTL mapping will be of benefit for the breeding of maize for many traits. (biomedcentral.com)
GBS has been a powerful tool for SNP discovery and high-density genetic map construction. (biomedcentral.com)
Using this high-density bin map, 35 QTL affecting plant architecture, including 14 for plant height, 14 for ear height, and seven for internode number were detected across three environments. (biomedcentral.com)

The first is composed of a small deletion (≤3.5 Mb) that is usually associated with a mild phenotype, lacking major malformations. (medscape.com)
The core phenotype maps within the terminal 1.9 Mb region of chromosome 4p. (medscape.com)

Two copies of chromosome 1, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
A 1q21.1 microduplication is a copied (duplicated) segment of genetic material at position q21.1 on one of the two copies of chromosome 1 in each cell. (medlineplus.gov)
Cells containing two copies of each chromosome are called "diploid. (genome.gov)

In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. (prosci-inc.com)
DAZAP1 is a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL.In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. (prosci-inc.com)

Data suggest that the p16 gene, located in the short arms of chromosome 9, may play a role in ovarian carcinogenesis. (iiarjournals.org)
The use of long molecules allows repetitive regions and other regions that are complicated to map, to be spanned more easily than with short molecules, leading to the creation of maps that may cover the hole arm of a chromosome (3). (mdanderson.org)
The majority of the families where the link has been established are associated with the SPG4 gene location on the short arm of chromosome 2. (disabled-world.com)
Cooper H, Hirschhorn K. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. (medscape.com)
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. (medscape.com)
Deficiency on the short arms of a chromosome No. 4]. (medscape.com)

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

We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. (who.int)

Herein, we report biallelic deletions in SOX10, a gene associated with Waardenburg syndromes type II and IV. (nih.gov)

Most mammals are diploid , but some organisms have either one set or more than two sets of each chromosome. (genome.gov)

Anatomy58

Organisms8

Diseases21

Chemicals and Drugs26

Analytical, Diagnostic and Therapeutic Techniques and Equipment32

Psychiatry and Psychology1

Phenomena and Processes156

Disciplines and Occupations1

Technology, Industry, Agriculture1

Information Science4

Genes20

Insertions3

Mutations8

Homozygous deletion4

Different chromosomes1

Genetics1

1p36 deletion1

Genomic4

Locus5

SNPs1

Syndrome17

Phenotypic4

Chromosomal4

Specific for chromosome2

Loci8

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Genome12

Breakpoints3

Alleles1

Molecular4

Contigs4

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Mutation3

Distal1

Large deletion1

Wheat3

Gene Deletion3

Region of deletion4

Pair1

Duplications1

Hemizygous1

Human4

Karyotype1

Abnormalities1

Disease gene3

Aberrations2

Variants3

4p16.31

Encodes1

ESTs2

Translocation2

Markers6

Linkage2

Homozygosity1

Anomalies2

Disorder1

Recombinant2

Interval1

High-density4

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Copies3

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Short6

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Mammals1