Loci to chromosome 6 by fluorescence in situ hybridization chromosomes human pair 6. Medical search. Frequent questions

Two of the DXS732-specific YACs were shown by fluorescent in situ hybridisation (FISH) analysis to bridge the (X;9) translocation breakpoint. (ox.ac.uk)
Further cytogenetic study using standard metaphase fluorescent in situ hybridization (FISH) technique was applied to cultured lymphocytes from peripheral blood, hybridized using green control probe specific to 9q21 loci, and red DMRT1 probe specific to 9p24.3 loci. (biomedcentral.com)
To date, B chromosome dosage in maize has mostly relied on cytogenetic analyses such as chromosome staining or fluorescent in situ hybridization (FISH). (biomedcentral.com)

Xq28 appears to be an unstable region of the human genome and genomic rearrangements are recognised as major causes of two single gene defects, haemophilia A and incontinentia pigmenti, which map within Xq28. (bmj.com)
Genome wide association studies, fluorescence in situ hybridization, comparative genomic hybridization, and candidate gene studies have enumerated genetic contributors to cancers in women. (hindawi.com)
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)
Bread wheat ( Triticum aestivum L.) originated from a spontaneous hybridization between the cultivated tetraploid wheat Triticum turgidum L. (2n = 4x = 28, AABB genome) and the wild diploid grass Aegilops tauschii Coss. (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)
The sequencing of the zebra finch Taeniopygia guttata genome, in combination with targeted bacterial artificial chromosome (BAC) sequencing, has allowed us to characterize an MHC from a highly divergent and diverse avian lineage, the passerines. (biomedcentral.com)
Cytogenetic (FISH) evidence and the genome assembly itself place core MHC genes on as many as four chromosomes with TAP and Class I genes mapping to different chromosomes. (biomedcentral.com)

Almost every chromosome is affected by numeric or structural aberrations. (neurotransmitter.net)
Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. (biomedcentral.com)
Chromosome 9 aberrations involving the terminal end of p arm, such as terminal p deletions or ring chromosomes have been reported to cause 46,XY DSD. (biomedcentral.com)
However, a thorough understanding of the molecular mechanisms that lead to MCA/MR as a result of chromosome aberrations is often lacking. (biomedcentral.com)
Chromosome aberrations can affect one or more genes in a complex manner, such as by changing the regulation of gene expression, by disrupting exons, and by creating fusion genes. (biomedcentral.com)
Here, we review current methods for breakpoint identification and their impact on the interpretation of chromosome aberrations in patients with MCA/MR. In addition, we discuss opportunities to dissect disease mechanisms based on large-scale genomic technologies and studies in model organisms. (biomedcentral.com)
Finally, we summarize the possible molecular consequences of chromosome aberrations for gene expression and function, and we discuss approaches for identification and unraveling the molecular determinants of congenital disease phenotypes. (biomedcentral.com)
In a control cohort of 68 human lymphocytes, telomere length and telomere aberrations were age-dependent and showed high inter-individual variation. (metasystems-probes.com)
Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (who.int)

The main part deals with examples of modern FISH-applications, highlighting unique possibilities of the approach, like the possibility to study individual cells and even individual chromosomes. (frontiersin.org)

Ordering of 80 contigs along the deletion bins of chromosome arm 5DS revealed small-scale breaks in syntenic blocks. (biomedcentral.com)
CGH array revealed a deletion around 1.25 Mb at 9p24.3 loci [arr 9p24.3(204,193-1,457,665)× 1] and three duplications around 13 Mb [9p24.3p22.3(1,477,660-14,506,754)× 3] near the breakage point that formed the ring chromosome 9. (biomedcentral.com)
[ 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)
Wolf-Hirschhorn syndrome results from the deletion of the distal short arm of chromosome 4. (medscape.com)
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)
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)

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)
DNA probes from DXS732 and DXS453, identified as the closest flanking marker loci to the EDA locus, were used to identify homologous Yeast Artificial Chromosome (YAC) clones. (ox.ac.uk)
In heterokaryotypic individuals (those that are heterozygous for an inversion) recombination within the inverted region is largely suppressed, either because homologous pairing is partially inhibited or because crossovers give rise to unbalanced gametes (carrying deletions or duplications) which will lead to the death of the zygote [ 1 ]. (biomedcentral.com)

Genetic polymorphisms range in size from single nucleotides (SNPs) to large scale insertions, deletions, or rearrangements that span several millions of base pairs [ 1 , 2 ]. (biomedcentral.com)
Much of this DNA hypomethylation is in 1qh, 9qh, and 16qh, regions that are the site of whole-arm deletions, chromatid and chromosome breaks, stretching (decondensation), and multiradial chromosome junctions in mitogen-stimulated lymphocytes. (biomedcentral.com)

The frequency of these rearrangements is high enough to be detected upon routine cytogenetic examination of metaphase chromosomes. (biomedcentral.com)
Mosaic) aneuploidies and chromosomal rearrangements are a frequent cause of idiopathic MCA/MR. Starting in 1959 with the identification of trisomy-21 as the genetic basis of Down syndrome [ 10 ], microscopic observation of metaphase chromosomes has for several decades been the method of choice for detecting chromosome abnormalities in MCA/MR patients. (biomedcentral.com)

Characterisation of breakpoints in patients with apparently balanced constitutional chromosome rearrangements and phenotypic abnormalities has proved an invaluable strategy for identifying disease causing genes, especially those on the X chromosome. (bmj.com)
3- 6 Phenotypic abnormalities seen in cases with apparently balanced chromosome rearrangements have usually been explained by the disruption of a gene at the breakpoint causing the loss of gene function. (bmj.com)
This review emphasizes the potential of analysing chromosomal rearrangements as a means to rapidly define candidate disease loci for further investigation. (neurotransmitter.net)
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. (biomedcentral.com)
ICF (OMIM #24242860) is a rare autosomal recessive disease that involves agammaglobulinemia or hypoglobulinemia with B cells as well as DNA rearrangements targeted to the centromere-adjacent heterochromatic region (qh) of chromosomes 1 and/or 16 (and sometimes 9) in mitogen-stimulated lymphocytes. (biomedcentral.com)
Possible approaches for cytogenomic assessment of couples with balanced chromosome rearrangements and problems like reproductive failures were considered and suggested as useful part of effective genetic counseling. (metasystems-probes.com)

Comparative genomic hybridisation (CGH) was used to screen 76 vestibular schwannomas from 76 patients (66 sporadic and 10 NF2 related) to identify other chromosome regions that may harbour genes involved in the tumorigenesis. (bmj.com)

Replication studies in the mother and daughter showed a skewed X inactivation pattern in lymphocytes, with the normal X chromosome preferentially inactivated. (bmj.com)

Dual color fluorescence in situ hybridization on metaphase and interphase chromosomes verified the relative order of some of the BACs and helped to orient them accurately in the contigs. (uaeu.ac.ae)

To investigate the possibility that a novel candidate gene for XLMR was disrupted at the X chromosome translocation breakpoint, we mapped the breakpoint using fluorescence in situ hybridisation (FISH). (bmj.com)
Intriguingly, we found that the X chromosome breakpoint in the daughter could not be defined by a single breakpoint spanning genomic clone and further analysis showed a 650 kb submicroscopic duplication between DXS7067 and DXS7060 on either side of the X chromosome translocation breakpoint. (bmj.com)

however, they require fixation of cells and high-temperature treatment for hybridisation. (nature.com)
We determine a comprehensive map of lineage-specific lncRNAs in human dermal lymphatic and blood vascular endothelial cells (LECs and BECs), combining RNA-Seq and CAGE-Seq. (nature.com)
B chromosomes are classified as dispensable genomic components tolerated by cells, which are transmitted to progeny despite providing no benefit in most cases. (biomedcentral.com)
The ability of parabens to promote the appearance of multiple cancer hallmarks in breast epithelium cells provides grounds for regulatory review of the implication of the presence of parabens in human breast tissue. (metasystems-probes.com)

The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
Genetic loci implicated in hereditary, familial, and sporadic breast cancer susceptibility. (hindawi.com)
Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important factor. (biomedcentral.com)

The clinical presentation of the subject that mimics Turner syndrome highlights the importance of cytogenetic analysis to detect the possibility of ring chromosome 9. (biomedcentral.com)
Currently, assessing the number of B chromosomes in maize largely depends on cytogenetic analyses, which are laborious and time-consuming. (biomedcentral.com)
The protocol significantly improves the efficiency of B chromosome number assessment in maize compared to cytogenetic approaches. (biomedcentral.com)

Most phenotypic manifestations in this syndrome reflect a contiguous gene syndrome, leading to a phenotypic map of chromosome arm 4p. (medscape.com)

18- 21 Xq28 is a highly gene rich region of the human X chromosome and we focused on the X chromosome breakpoint as the identification of a disrupted gene here would be a rapid way to identify a further candidate gene for X linked mental retardation within Xq28. (bmj.com)
The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing. (metasystems-probes.com)

A short introduction how cytogenetics and molecular cytogenetics were established is followed by technical aspects of fluorescence in situ hybridization (FISH). (frontiersin.org)
This review is about "molecular cytogenetics" including 1) the historical perspective of its development from cytogenetics, 2) technical aspects, 3) available probe sets, and 4) variants and applications of the basic fluorescence in situ hybridization (FISH) approach. (frontiersin.org)

Fluorescence in situ hybridisation (FISH) and immunofluorescence staining has been mainly used to analyse the gene localization and chromatin distribution in nuclei of A. thaliana . (nature.com)
Different variants of FISH can be used to retrieve information on genomes from (almost) base pair to whole genomic level, as besides only second and third generation sequencing approaches can do. (frontiersin.org)
Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, parental origin determination FISH (POD-FISH), FISH to resolve the nuclear architecture, multicolor-FISH (mFISH) approaches, among other applied in chromoanagenesis studies, Comet-FISH, and CRISPR-mediated FISH-applications. (frontiersin.org)
It is expected that hybridization of these two kinds of fish will result in F 1 hybrids with improved characteristics, such as faster growth rate, stronger resistance, and high-quality meat, which are of great significance in fish genetic breeding. (biomedcentral.com)
This includes both karyotyping of banded chromosomes and, since the nineties of the last century, also fluorescence in situ hybridization (FISH). (biomedcentral.com)

The protection of centromeric cohesin by SGO1 maintains the sister chromatid cohesion that resists the pulling forces of microtubules until all chromosomes are attached in a bipolar manner to the mitotic spindle. (cbinsights.com)
or maize ( Zea mays )] paracentric inversions often do not cause reduced fertility in females because the dicentric chromatid is preferentially passed into the second polar body [ 6 , 9 ]. (biomedcentral.com)

Despite having similar gene order and content, the equine region covered by the contigs appears to be distinctly smaller than the corresponding region in human (3.3 Mb vs. 5.5-6 Mb) because the latter harbors a host of repetitive elements and gene families unique to humans/primates. (uaeu.ac.ae)
Y chromosome harbors male‑specific genes, which either solely or in cooperation with their X-counterpart, and independent or in conjunction with sex hormones have a considerable impact on basic physiology and disease mechanisms in most or all tissues development. (biomedcentral.com)

In particular, a distinction between those inversions which cover both chromosome arms and thus include the centromere (pericentric inversions) and those which are restricted to a single chromosome arm (paracentric inversions) has often been made [ 9 ]. (biomedcentral.com)
Note that the instability is not in the centromere itself, but rather in the region adjacent to the centromere (qh), predominantly in chromosomes 1 and 16. (biomedcentral.com)
The studies of B chromosomes of maize also significantly aided our understanding of centromere functions [ 12 ] and transmission of univalents during meiosis [ 5 , 8 , 7 ]. (biomedcentral.com)

This universal approach can be modified for chromosome number detection in other species, not only for the B chromosome but also for any other chromosome in aneuploid constitution. (biomedcentral.com)

5, 6 The NF2 gene is a tumour suppressor, as corroborated by studies showing complete inactivation of the gene in more than 60% of schwannomas, either by mutation in both alleles or by loss of one allele and mutation in the other. (bmj.com)
Their X homologs excessively escape X chromosome inactivation, thus researchers classified them as dose-sensitive and haplolethal genes. (biomedcentral.com)

Moreover, ZNF217 recruited EZH2 to the EPB41L4A-AS2 locus and suppressed the expression of EPB41L4A-AS2 by epigenetically increasing H3K27me3 enrichment. (cancerindex.org)
Sex determination and development in males occurs during the embryonic period, and is initiated by the expression of SRY gene located on the short arm of the Y chromosome. (biomedcentral.com)
In addition, the in situ expression of VGLL3 in the GC tissues was determined by immunohistochemistry (IHC), and the patients were accordingly classified into the high and low expression groups. (researchgate.net)

X-degenerate sequences are single copy and broadly expressed genes which were evolved from ancestral autosomes to generate sex chromosomes. (biomedcentral.com)
The X-transposed region is a result of a recent X-to-Y transposition that has preserved 99% similarity to their X chromosome sequences. (biomedcentral.com)

The human Y chromosome is male specific, constitutively haploid and largely escapes meiotic recombination. (biomedcentral.com)
The human Y chromosome is a haploid male-specific chromosome. (biomedcentral.com)

nature structural & molecular biology Abstract In the early stages of mitosis, cohesin is released from chromosome arms but not from centromeres. (cbinsights.com)
Understanding the molecular mechanisms underlying Y chromosome-related diseases can have a significant impact on the prevention, diagnosis, and treatment of diseases. (biomedcentral.com)

On the other hand, pericentric inversions often lead to decreased fertility in females [ 6 , 7 ], which may also explain the preponderance of polymorphic paracentric over pericentric inversions in species like Drosophila spp. (biomedcentral.com)

In 1986, the NF2 gene was mapped to chromosome 22, and in 1993, two groups independently isolated the gene and named its encoding protein merlin or schwannomin. (bmj.com)
Duplex PCR using primers based on the chromosome (Y) in accordance with the sex-determining gene DEAD-box Y-linked protein (DBY) simultaneously used with BMC1009 locus were amplified as an internal control per each reaction. (aejournal.ir)

Cohesion at centromeres is protected by Shugoshin (SGO1) 11 , 12 , 13 , 14 , giving rise to the typical X-shaped structure of human chromosomes. (cbinsights.com)

Hybridization can combine parental advantages and result in offspring with traits superior to those of the parents, such as faster growth rate, stronger disease resistance, and higher survival rate. (biomedcentral.com)

The occurrence is about 6 per 1000 in Asia, 10-20 per 1000 in Europe and USA and about 40 per 1000 in Africa [ 8 , 15 ]. (biomedcentral.com)

The NF2 gene is a tumour suppressor on chromosome 22. (bmj.com)

It is well documented that telomere dysfunction plays a significant role in the initiation of genomic instability during carcinogenesis in human breast cancer. (metasystems-probes.com)

It is here suggested that the word "cytogenomics" should rather be used with the goal to paraphrase a new field of research in genomics and diagnostics in human genetics, with an integrative and comprehensive view. (frontiersin.org)

SGO1-cohesin binding is maintained until the formation of microtubule-kinetochore attachments and is required for faithful chromosome segregation and the maintenance of a stable karyotype. (cbinsights.com)
The hybrids were diploids with 48 chromosomes and had the same karyotype formula as their parents. (biomedcentral.com)
However, in some accessions, the karyotype is "enlarged" by the presence of so-called supernumerary B chromosomes [ 18 ]. (biomedcentral.com)

B chromosomes have been the target of countless studies due to their dispensability, making them an attractive tool for studying their impact on the host plant, acting as a mediator for introducing new traits [ 13 ]. (biomedcentral.com)

abstract = "A total of 207 BAC clones containing 155 loci were isolated and arranged into a map of linearly ordered overlapping clones over the proximal part of horse chromosome 21 (ECA21), which corresponds to the proximal half of the short arm of human chromosome 19 (HSA19p) and part of HSA5. (uaeu.ac.ae)

The results are reliable, there are two bands 280-310 (polymorphic band) and 180 base pairs (bp) in male deer and 280-310 (polymorphic band) base pairs (bp) in female deer showed. (aejournal.ir)

A panel of somatic cell hybrids and X-linked hypohidrotic ectodermal dysplasia (EDA) patient-derived cell lines, containing different rearranged X chromosomes, have been used to refine the physical map of the Xq12-q13.1 region. (ox.ac.uk)
This map subdivides the region into at least 6 mapping-intervals. (ox.ac.uk)
This terminal region of chromosome 9p (9p24.3 region) contains 3 types of DMRT genes ( DMRT1 - 3 ). (biomedcentral.com)
About 95% of the Y chromosome is composed of the male-specific region of the Y chromosome (MSY), and the other 5% is two pseudoautosomal regions (PAR1 and PAR2) in two ends of this chromosome (Fig. 1 ). (biomedcentral.com)
The core phenotype maps within the terminal 1.9 Mb region of chromosome 4p. (medscape.com)
Multicolor banding, chromosomal microarray analysis, chromosome microdissection with reverse painting, and single-copy sequencing of the rearranged chromosome were performed to determine the length and position of the inverted region as well as to rule out a genetic imbalance at the breakpoints. (metasystems-probes.com)

The characteristic of the B chromosome is its irregular inheritance. (biomedcentral.com)
6 ]). These chromosomes are not essential and to maintain themselves in the population, they exploit a non-Mendelian mode of inheritance-in plants, most commonly through post-meiotic non-disjunction in the gametophyte [ 14 ]. (biomedcentral.com)

As maize is one of the most important crops worldwide, research on the maize B chromosome has been pioneering in the field. (biomedcentral.com)
In this study, we report a rapid and straightforward protocol for determining the number of B chromosomes in maize plants. (biomedcentral.com)
We developed a droplet digital PCR assay using specific primers and a TaqMan probe for the B-chromosome-linked gene and a single-copy reference gene on maize chromosome 1. (biomedcentral.com)
In this context, droplet digital PCR (ddPCR) offers an elegant solution to simplify the assessment of B chromosomes not only in maize but also in many other species. (biomedcentral.com)

Simultaneous assessment of aneuploidy, polymorphisms, and mitochondrial DNA content in human polar bodies and embryos with the use of a novel microarray platform. (takarabio.com)

Mammalian Y chromosome originated from an ancestral autosome about 300 million years ago is a degenerated X-chromosome [ 16 ]. (biomedcentral.com)

Some insect species have evolved mechanisms to reduce the cost of embryo mortality but humans have not. (biomedcentral.com)

Polymorphism at MHC loci facilitates binding of a diversity of pathogens and this evolutionary selection pressure is thought to contribute to the high genetic variation in MHC loci [ 1 ]. (biomedcentral.com)

Here we present the X-ray crystal structure of a segment of human SGO1 bound to a conserved surface of the cohesin complex. (cbinsights.com)

Studies demonstrated that the Y chromosome is not a 'genetic wasteland' and can be a useful genetic marker for interpreting various male-specific physiological and pathophysiological characteristics. (biomedcentral.com)
In this review, the involvement of Y chromosome genes in male-specific diseases such as prostate cancer and the cases that are more prevalent in men, such as cardiovascular disease, neurological disease, and cancers, has been highlighted. (biomedcentral.com)
In this article, the role of Y chromosome in male-specific diseases (male infertility and prostate cancer (PC), and the ones which primarily affect men such as cardiovascular diseases, inflammatory diseases, and various types of cancers has been reviewed (Fig. 2 ). (biomedcentral.com)

The clones form two contigs - each corresponding to the respective human chromosomes - that are estimated to be separated by a gap of ∼200 kb. (uaeu.ac.ae)
Direct cosmid-cosmid hybridisation analysis placed subsets of these clones within four different cosmid contigs. (ox.ac.uk)

Anatomy62

Organisms8

Diseases22

Chemicals and Drugs35

Analytical, Diagnostic and Therapeutic Techniques and Equipment37

Psychiatry and Psychology1

Phenomena and Processes160

Disciplines and Occupations2

Technology, Industry, Agriculture1

Information Science4

Health Care2

Fluorescent3

Genome8

Aberrations9

Individual chromosomes1

Deletion6

Homologous11

Deletions2

Metaphase chromosomes2

Rearrangements6

Comparative1

Lymphocytes1

Interphase1

Translocation breakpoint2

Cells4

Susceptibility3

Cytogenetic3

Phenotypic1

Breakpoint2

Cytogenetics2

FISH5

Chromatid2

Harbors2

Centromere3

Detection1

Inactivation2

Expression3

Sequences2

Haploid2

Molecular2

Drosophila1

Protein2

Centromeres1

Survival Rate1

Occurrence1

Suppressor1

Breast cancer1

Genomics1

Karyotype3

Traits1

Abstract1

Base pairs1

Region6

Inheritance2

Maize4

Assessment1

Ancestral1

Mechanisms1

Genetic variation1

Segment1

Male3

Contigs2