*  Comparative genomic hybridization analysis of adrenocortical t...
Comparative genomic hybridization analysis of adrenocortical tumors.: Comparative genomic hybridization (CGH) is a molecular cytogenetic technique that allows t
*  A luminescence switch-on assay for the detection of specific gene deletion using G-quadruplex DNA and silver nanoclusters -...
Gene deletion is a kind of DNA mutation that results in a part of the DNA being absent. Cytogenetically visible deletions occur in 1 in approximately every 7000 live births, and human disorders caused by chromosomal deletions include the cri du chat syndrome and the Prader-Willi syndrome.1 The phenotypic effects of deletions depend on the size of deletion, which can range from 5 bp to 2 bp, and the location of the deleted sequences on the genome. It has been reported that the resulting defect might be more drastic if more genes are involved with the larger gene deletion.2 In consideration of the important role of gene deletion as a causative agent and as an indicator of diseases, it is of crucial importance to develop sensitive and efficient methods for gene deletion detection. Typical methods for the detection of gene deletions include capillary ...
*  Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation. -...
A 300 base pair deletion near the 3'-end of the gene encoding Type II (cartilage) collagen has been implicated in the pathogenesis of perinatal lethal osteogenesis imperfecta. We have found similar deletions occurring at a high frequency in normal Asian Indian and West Indian populations generated by a length polymorphism just beyond the 3'-end of the gene. We suggest that this polymorphism provides an alternative explanation of the original results.
*  Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. - PubMed - NCBI
Clin Genet. 2011 Nov;80(5):435-43. doi: 10.1111/j.1399-0004.2010.01578.x. Epub 2010 Nov 29. Case Reports; Research Support, Non-U.S. Gov't
*  FISH assay development for the detection of p16/CDKN2A deletion in malignant pleural mesothelioma | Journal of Clinical...
We demonstrate that FISH for p16/CDKN2A deletion can be a clinically useful marker to confirm a diagnosis of malignancy, particularly in biopsies with limited material that lack definitive evidence of invasion. Moreover, we determined cut-off values for homozygous and hemizygous p16/CDKN2A deletion by FISH on routine FFPE tissue sections and tested our assay using equivocal cases. To confirm the accuracy of the assay, a third MYC probe was used to verify samples showing a homozygous deletion pattern, thereby avoiding potential false positive results. Using the established criteria, we show that hemizygous deletion alone may occur in mesothelioma and is, in and of itself, sufficient for the diagnosis of malignancy.. The establishment of cut-off values for detecting deletions in FFPE material requires special consideration because sectioning creates truncation artifacts; therefore cut-offs need to be higher than in samples ...
*  Discovery of significant variants containing large deletions in the 5'UTR of human hepatitis C virus (HCV) | Virology Journal |...
We have previously reported the isolation of HCV from infected patients and in vitro replication of these isolates [10]. A molecular analysis of CIMM-HCV for possible subtypes and quasispecies was recently performed which showed that the isolated HCV had only minor sequence changes compared to patient HCV [11].. A patient with unique deletions is the subject of this study. This patient had not yet undergone therapy, and therefore the deletions found in the patient were not induced by treatment. Deletions of up to 18 bases in the 5'UTR, along with additions of up to 40 bases have previously been reported [12], and deletions of up to 2 kb have been found in the protein coding region of HCV [13]. The deletions of 113 or 116 bp in patient 313 were limited to the region between two strings of C's in the 5'UTR. Domains IIIa through IIIc, which are missing in these deletions, are thought to be bound by the right ...
*  Clinical Genetic Testing for Patients With Autism Spectrum Disorders | Articles | Pediatrics
Results: Karyotype yielded abnormal results in 19 of 852 patients (2.23% [95% confidence interval (CI): 1.73%-2.73%]), fragile X testing was abnormal in 4 of 861 (0.46% [95% CI: 0.36%-0.56%]), and CMA identified deletions or duplications in 154 of 848 patients (18.2% [95% CI: 14.76%-21.64%]). CMA results for 59 of 848 patients (7.0% [95% CI: 5.5%-8.5%]) were considered abnormal, which includes variants associated with known genomic disorders or variants of possible significance. CMA results were normal in 10 of 852 patients (1.2%) with abnormal karyotype due to balanced rearrangements or unidentified marker chromosome. CMA with whole-genome coverage and CMA with targeted genomic regions detected clinically relevant copy-number changes in 7.3% (51 of 697) and 5.3% (8 of 151) of patients, respectively, both higher than karyotype. With the exception of recurrent deletion and duplication of chromosome 16p11.2 and 15q13.2q13.3, most copy-number ...
*  Plus it
By comparison with data reported previously for Western prostate cancers (4, 11-13), we have identified genomic alterations common in both populations, including gains of 7 and 8q, and losses of 6q14.1-22.1, 8p, 13q12.3-31.1, and 16q12.1-24.3. However, the frequency of 6q14.1-22.1 (27 of 39) and 13q12.3-31.1 (28 of 39) deletions detected in this study were greater than that previously reported for Western cancers (4, 12, 13). Tumor suppressor genes RB, BRCA2, and KLF5 are located at 13q12.3-31.1 and candidate tumor suppressor genes at 6q14.1-22.1 have been suggested but not yet confirmed (4, 14). In Western populations, 6q15 and 6q21 deletions characterize certain subgroups of prostate cancer (4, 14). The roles of these genes at 6q14.1-22.1 and 13q12.3-31.1 in Chinese prostate cancer development should therefore be investigated.. Surprisingly, in the Chinese samples, we found low frequencies of two common genomic changes observed in Western samples: deletion ...
*  Deletion mapping
Salmonella typhimurium can use ethanolamine as a sole carbon or nitrogen source if vitamin B12 is available. A large number of ethanolamine utilization (eut) mutants have been isolated (Roof and Roth. 1988. J. Bacteriol. 170: 3855-3863). Some of the eut mutants are unable to use ethanolamine as a carbon or nitrogen source (N-C-) and some of the eut mutants are unable to use ethanolamine as a carbon source but can still use ethanolamine as a nitrogen source (N+C-). The position of the (N+C-) mutations was determined by mapping against the eut deletions shown in the following figure. The results are shown in the following table (+ indicates that the mutation can repair the deletion and - indicates that the mutation cannot repair the deletion). ...
*  DiGeorge Syndrome | Regional Medical Center
Learn more about DiGeorge Syndrome at Regional Medical Center of San Jose DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
*  DiGeorge Syndrome | Portsmouth Regional Hospital
Learn more about DiGeorge Syndrome at Portsmouth Regional Hospital DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
*  What is Chromosome 18q-? - Caring In the Chaos
Chromosome 18Q- or Distal 18q affects the long arm of the chromosome and means there is a deletion of information on the long arm of the 18th Chromosome.
*  What care and support is available for those with deletion 22q11 syndrome? - Health Awareness
As many as 60,000 people in the UK could have the rare genetic condition 22q11 deletion syndrome, but are not getting the medical care and support they need.
*  Schizophrenia Patients May Now Be Able To Make 'Voices In The Head' Quieter : Science : iTech Post
Researchers used a mouse model that mimics 22q11 deletion syndrome, also known as DiGeorge syndrome. People with this syndrome are more likely to develop psychiatric conditions, including Schizophrenia.
Exposure of normal mouse spleen cells in vitro to highly 125I-labeled dinitrophenyl (DNP)-protein carrier conjugates specifically inactivated cells able to mount an immune response to that hapten after in vivo challenge. The deletion was hapten specific and independent of the radioactive carrier to which the hapten was bound. DNP-binding cells were inactivated by radioactivity that was not part of the hapten, but was solely confined to the carrier moiety. The deletion of the anti-DNP response lasted 2-3 wk and could be specifically inhibited.. ...
*  New clinical study evaluates first drug to show improvement in subtype of autism
One copy of the q13 portion of chromosome 22 is either missing or otherwise mutated in SHANK3 deficiency, also known as Phelan-McDermid Syndrome or 22q13 Deletion Syndrome (22q13DS). The area in question contains the gene SHANK3, and there is overwhelming evidence that it is the loss of one copy of SHANK3 that produces the neurological and behavioral aspects of the syndrome. The SHANK3 gene is key to the development of the human nervous system, and loss of SHANK3 can impair the ability of neurons to communicate with one another ...
*  Mother's of Toddlers with speech delays Group Posts - CafeMom
CafeMom is a community where moms come together to get advice and support on topics like pregnancy, health, fashion, food, entertainment, and more.
*  CalBean Birthday! - Surprisingly Special
Calvin turned 4!! And I'm calling this my 22q awareness post for this month :) My oldest son, Calvin, was born with 22q11.21 Deletion Syndrome - meaning that he is missing a teeny tiny section of genes on his 22nd chromosome. 22q DS is not all that uncommon, and has gone by several different names…
*  BMIQ16 Gene - GeneCards
Complete information for BMIQ16 gene (Uncategorized), Chromosome 16p11.2 Deletion Syndrome, 220kb, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
*  BIS101 HW6 F08 Engebrecht - Deletions x Point mutations 1 2 3 4 5 1 2 3 4 5 1 a 2 b 3 c 4 d 5 e 2 The following DNA is part of...
View Notes - BIS101 HW6 F08 Engebrecht from BIS 101 at UC Davis. Deletions x Point mutations 1 2 3 4 5 1 2 3 4 5 1 - - - - + a + - - + + 2 - - + + b + + - + - 3 - - - c - + - - + 4 - + d - - - + + 5
*  What causes myeloma cancer? | Reference.com
As of 2015, the cause of the majority of myeloma cancers is not known, but progress is being made in understanding how mutations in DNA turn tumor suppressor genes on and off, explains the American...
*  22q and motor difficulties - developing new therapies - News - Cardiff University
Researchers at Cardiff University discuss their research into developing new therapies for people with 22q11.2 Deletion Syndrome.
*  NZOZ Genos Sklep
The DiGeorge N25 Chromosome Region Probe is a Dual Color, directly labeledprobe for detection of the D22S75 locus. The SpectrumGreen LSI controlprobe (22q13) identifies the presence of both 22 chromosomes. The D22S75locus is located within the DiGeorge/VCFS critical region. The N25 probe isknown to contain the N25 locus ...
*  Biology-Online • View topic - Gene deletion
And they even used system where they could remove the selection gene easily. The strain was uracil or thymine dependent and they used some gene recovering this. Thus after transformation it was able to grow without U/T (I'm not sure which one). However, if they added 5-fluoro-uracil, it produced some toxic product and thus only fungi lacking the selection gene survived ...
*  clonal deletion - oi
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