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  • genetic
  • Despite significant progress in identifying accumulated genetic abnormalities contributing to the malignant phenotype of colon cancer cells ( 1 , 2 ), a more detailed understanding of colon carcinoma generation and progression is needed. (aacrjournals.org)
  • This affects only certain segments of the human genetic complement, including PWS and Angelman syndrome on chromosome 15q. (pwsausa.org)
  • A genetic linkage map shows the relative locations of specific DNA markers along the chromosome. (lsu.edu)
  • In this way, it breaks down unneeded DNA molecules or fragments that may be generated during genetic material in preparation for cell division, DNA repair, cell death, and other processes. (wikipedia.org)
  • An extra or missing chromosome is a common cause of genetic disorders, including some human birth defects. (wikipedia.org)
  • Although, the extended translocation of mtDNA fragments and their co-amplification with free mitochondrial DNA has been problematic in the diagnosis of mitochondrial disorders, in the study of population genetics, and phylogenetic analyses, scientists have used NUMTs as the genetic markers to figure out the relative rate of nuclear and mitochondrial mutation and recreating the evolutionary tree. (wikipedia.org)
  • aberration
  • After the last time of radiation exposure, all the mice were employed for the determination of the body mass (BM) observation, forced swim test (FST), the open field test (OFT), the chromosome aberration (CA), the peripheral blood cells parameters analysis, the sperm abnormality (SA), the lymphocyte transformation test (LTT), and the histopathological studies. (hindawi.com)
  • Illumina
  • For example, a barcoded Illumina paired-end sequencing (BIPES) approach was used to assess microbial diversity by sequencing the 16S V6 tag. (wikipedia.org)
  • Library construction proceeds as normal for Illumina paired-end sequencing. (wikipedia.org)
  • characteristic
  • Though symptoms of Turner's syndrome vary depending on the severity of the chromosomal abnormality, characteristic traits include very short stature and loss or lack of ovarian function. (beltina.org)
  • Examples of these types of markers include (1) restriction fragment length polymorphisms (RFLPs), which reflect sequence variations in DNA sites that can be cleaved by DNA restriction enzymes, and (2) variable number of tandem repeat sequences, which are short repeated sequences that vary in the number of repeated units and, therefore, in length (a characteristic easily measured). (lsu.edu)
  • Each species has a characteristic number of chromosomes. (encyclopedia.com)
  • rearrangements
  • Their study revealed the chromosome rearrangements and CNV of MCF7 human cancer cells at a 150kb resolution, which is much more accurate compared to both CGH and spectral karyotyping at that time. (wikipedia.org)
  • In most cases, the changes in copy number seen on array-CGH profiles reflected cumulative chromosome rearrangements. (biomedcentral.com)
  • In order to interpret ("decode") complex CGH profiles and to describe the underlying chromosome rearrangements, additional information is required. (biomedcentral.com)
  • Large numbers of complex rearrangements in localised regions of single chromosomes or chromosome arms (showed by high density and clustered breakpoints) which suggests that chromosomes need to be condensed e.g. in mitosis for chromothripsis to occur. (wikipedia.org)
  • This suggest that the rearrangements took place at a time that both parental copies of the chromosome were present and hence early on the development of the cancer cell. (wikipedia.org)
  • retinal
  • The main features of this syndrome involve retinal abnormalities so type XVIII collagen may play an important role in retinal structure and in neural tube closure. (bio-rad.com)
  • Optically correctable, but continuous, deterioration of visual acuity due to extensive multifocal microvascular abnormalities and retinal neovascularization leading, ultimately, to a loss of vision. (wikipedia.org)
  • Allele
  • In 2015, it was found that chromothripsis can also be curative: a woman who had WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome, an extremely rare autosomal dominant combined immunodeficiency disease, found her symptoms disappeared during her 30s after chromothripsis of chromosome 2 deleted the disease allele. (wikipedia.org)
  • segregation
  • Mendel's first principle, segregation , is the direct result of the separation of homologous chromosomes during anaphase I of meiosis. (tripod.com)
  • Past methods have been used to track the inheritance patterns of chromatids on a per-strand basis and elucidate the process of non-random segregation: Pulse-chase experiments have been used for determining the segregation patterns of chromosomes in addition to studying other time-dependent cellular processes. (wikipedia.org)
  • Despite this, most neocentromeres are still able to carry out the functions of normal centromeres in regulating chromosome segregation and inheritance. (wikipedia.org)
  • In some cases, segregation of these chromosomes result in partial trisomy, and at other times, a partial tetrasomy. (wikipedia.org)
  • humans
  • The most frequent aneuploidy in humans is trisomy 16, although fetuses affected with the full version of this chromosome abnormality do not survive to term (it is possible for surviving individuals to have the mosaic form, where trisomy 16 exists in some cells but not all). (wikipedia.org)
  • sperm
  • During meiosis, when germ cells divide to create sperm and egg (gametes), each half should have the same number of chromosomes. (wikipedia.org)
  • restriction
  • Circles are subsequently fully digested with a second restriction enzyme (such as EcoRI) to generate a large number of fragments. (wikipedia.org)
  • One suggestion for overcoming these problems would be to combine the two methods, i.e. to construct a jumping library from DNA fragments digested partially with a commonly cutting restriction enzyme and completely with a rare cutting restriction enzyme and circularizing them into plasmids cleaved with both enzymes. (wikipedia.org)
  • This filling-in reaction worked by destroying the specific cohesive ends (resulting from restriction digests) of the DNA fragments that were nonligated and noncircularized, thus preventing them from cloning into the vectors, in a more energy-efficient and accurate manner. (wikipedia.org)
  • halves
  • It is interesting that despite having identical sequences in two halves of the chromosome, the neocentromere is only formed once. (wikipedia.org)
  • sequence
  • Fluorescent in situ hybridization (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only those parts of the chromosome with a high degree of sequence complementarity. (wikipedia.org)
  • After mapping is completed, the next step is to determine the base sequence of each of the ordered DNA fragments. (lsu.edu)
  • Rejoining of fragments require very minimal or even no sequence homology and consequently suggesting that nonhomologous or microhomologous repair mechanisms such as non-homologous end joining (NHEJ) and microhomology-mediated break induced repair (MMBIR) dominate double stranded break repair and are involved in modelling the chromothriptic landscape, opposed to homologous recombination which requires sequence homology. (wikipedia.org)
  • Variable mapping resolutions are obtainable by adjusting the amount of sequence overlap between probes, or the amount of known base pairs between probe sequences, as well as probe length. (wikipedia.org)
  • single
  • Non-invasive prenatal screening (NIPS) for fetal chromosome abnormalities is based on either massively parallel sequencing [ 5 - 11 ] or analysis of single nucleotide polymorphism (SNP) patterns [ 12 , 13 ] from cfDNA in maternal serum. (biomedcentral.com)
  • Clonal populations of bacteria, each population maintaining a single artificial chromosome, are stored in various laboratories around the world. (wikipedia.org)
  • In living organisms, DNA does not usually exist as a single molecule, but instead as a pair of molecules that are held tightly together. (wikipedia.org)
  • The most widely accepted and straightforward model for chromothripsis is that within a single chromosome, distinct chromosomal regions become fragmented/shattered almost simultaneously and subsequently rejoined in an incorrect orientation. (wikipedia.org)
  • Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome. (wikipedia.org)
  • Two solutions were suggested: either screening junction fragments with a given probe or adding a second size-selection step after the ligation to separate single circular clones (monomers) from clones ligated to each other (multimers). (wikipedia.org)
  • detect
  • Inversions and translocations are relatively easy to detect by an invalid pair of sequenced-end. (wikipedia.org)
  • It was developed by biomedical researchers in the early 1980s and is used to detect and localize the presence or absence of specific DNA sequences on chromosomes. (wikipedia.org)
  • partial
  • However, this could create problems with circularizing the DNA fragments since these fragments would be very long, and would also lose the flexibility in choice of end points that one gets in partial digests. (wikipedia.org)
  • maternal
  • Non-invasive prenatal screening (NIPS) for fetal chromosome abnormalities using cell-free deoxyribonucleic acid (cfDNA) in maternal serum has significantly influenced prenatal diagnosis of fetal aneuploidies since becoming clinically available in the fall of 2011. (biomedcentral.com)
  • strands
  • In experiments used to study non-random chromosome assortment, stem cells are labeled or "pulsed" with a nucleotide analog that is incorporated in the replicated DNA strands. (wikipedia.org)
  • At this point the chromosomes are composed of nascent strands with BrdU in place of thymidine and the original template strands are primed for DNA sequencing library preparation. (wikipedia.org)
  • The nitrogenous bases of the two separate polynucleotide strands are bound together, according to base pairing rules (A with T and C with G), with hydrogen bonds to make double-stranded DNA. (wikipedia.org)
  • proteins
  • Alterations in gene expression, the redistribution of existing proteins, and the assembly of new protein complexes can be stimulated by a variety of DNA lesions and mismatched DNA base pairs. (jove.com)
  • FANCA proteins are involved in inter-strand DNA cross-link repair and in the maintenance of normal chromosome stability that regulates the differentiation of haematopoietic stem cells into mature blood cells. (wikipedia.org)
  • nucleotide
  • In experiments used to study non-random chromosome assortment, stem cells are labeled or "pulsed" with a nucleotide analog that is incorporated in the replicated DNA strands. (wikipedia.org)
  • The RNAi pathway is found in many eukaryotes, including animals, and is initiated by the enzyme Dicer, which cleaves long double-stranded RNA (dsRNA) molecules into short double-stranded fragments of ~20 nucleotide siRNAs. (wikipedia.org)
  • Exogenous dsRNA initiates RNAi by activating the ribonuclease protein Dicer, which binds and cleaves double-stranded RNAs (dsRNAs) in plants, or short hairpin RNAs (shRNAs) in humans, to produce double-stranded fragments of 20-25 base pairs with a 2-nucleotide overhang at the 3' end. (wikipedia.org)
  • Synapsis
  • Causes include the following: Losses from translocation Chromosomal crossovers within a chromosomal inversion Unequal crossing over Breaking without rejoining For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop. (wikipedia.org)
  • Sequence
  • Fluorescent in situ hybridization (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only those parts of the chromosome with a high degree of sequence complementarity. (wikipedia.org)
  • In the eventual analysis, these fragments were put into order by digesting a copy of each fragment into still smaller fragments using sequence-specific endonucleases, measuring the size of each small fragment using size-exclusion chromatography, and using that information to determine where the large fragments overlapped one another. (wikipedia.org)
  • Variable mapping resolutions are obtainable by adjusting the amount of sequence overlap between probes, or the amount of known base pairs between probe sequences, as well as probe length. (wikipedia.org)
  • base
  • For instance, the DNA in the largest human chromosome, chromosome number 1, consists of approximately 220 million base pairs and would be 85 mm long if straightened. (wikipedia.org)
  • The DNA samples (which are 25-80 base pairs in length) are then placed on slides to be observed under microscope. (wikipedia.org)
  • Beside the lack of specific growth factor, studies have shown that something as small as base pair differences between amphibian and human Hox analogs play a crucial role in human inability to reproduce limbs. (wikipedia.org)
  • protein
  • Deletion of a number of pairs that is not evenly divisible by three will lead to a frameshift mutation, causing all of the codons occurring after the deletion to be read incorrectly during translation, producing a severely altered and potentially nonfunctional protein. (wikipedia.org)
  • Common
  • common multigene haplotypes are generally the result of descent by common ancestry (share a recent common ancestor for that segment of the chromosome). (wikipedia.org)
  • size
  • Transgenic DRPLA mice demonstrated several neuronal abnormalities including a reduction in the number and size of dendritic spines as well as in the area of perikarya and diameter of dendrites. (wikipedia.org)