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The Future
Published in James Sherifi, General Practice Under the NHS, 2023
Point of care investigations will become more available as technology drives down the cost of machines. The same will apply to patients monitoring their chronic conditions. Patients will be encouraged to undertake genome mapping once the wider ethical issues have been overcome.
Mapping and sequencing: From gene to genome
Published in Peter S. Harper, The Evolution of Medical Genetics, 2019
A number of the major lay societies were strong supporters of gene mapping initiatives, sensing that, once a gene relevant to ‘their’ disease was localised, this represented an important step towards its isolation and hopefully towards therapy. Disease associations in the UK that made significant contributions include the Cystic Fibrosis Foundation, the Muscular Dystrophy Campaign and the Tuberous Sclerosis Society. Many patients also gave key samples that helped the mapping process. These efforts, as mentioned above, progressively produced ‘islands’ on the genome that became extensively mapped, and later sequenced; it could even be argued that these might have eventually coalesced to give a sequence of the entire genome if there had been no overall Human Genome Project. At any rate, these initiatives deserve greater recognition than they have received.
Molecular Genetics and Diagnostic Testing
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
The Southern blotting technique is most useful for assessment of large segments of DNA measuring several kilobases in size. The technique was initially used to detect RFLPs for linkage analysis in gene mapping and for parentage and forensic testing. It is currently used in diagnostic laboratories to detect large alterations in gene structure, such as large expansions of trinucleotide repeats and large inversions and deletions.
The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study
Published in Expert Review of Molecular Diagnostics, 2023
Dinh-Toi Chu, Mai Vu Ngoc Suong, Hue Vu Thi, Thuy-Duong Vu, Manh-Hung Nguyen, Vijai Singh
Currently, because BRCA1/2 test is extremely expensive, it is only available to patients whose family members have had a history of ovarian cancer or who want to be tested, so the gene bank of disease is still very inadequate [71]. By completing the BRCA1/2 gene mapping and performing the BRCA1/2 gene test combined with transcriptional gene profiling, unnecessary medical costs, and testing time can be reduced. Moreover, the reliability will be increased, and early screening will help us to target patients at early risk of OC and provide appropriate treatment. Comprehensive population testing, especially for those with a family history of OC, should be considered over the next few years for possible clinical management of ovarian cancer patients. Patients found to have BRCA gene mutations should be closely monitored and given the earliest possible treatment.
Potential of CRISPR/Cas system in the diagnosis of COVID-19 infection
Published in Expert Review of Molecular Diagnostics, 2021
V. Edwin Hillary, Savarimuthu Ignacimuthu, S. Antony Ceasar
CRISPR/Cas system is an RNA-guided endonuclease (RGEN)-based nucleic acid detecting tool that has changed the field of genomics, genome modification, gene therapy, and genome mapping [32,33]. The CRISPR and Cas proteins are adaptive immune systems against bacteria and archaea [34,35]. The CRISPR loci consist of a CRISPR array separated by a unique spacer sequence (30–40 bases). Adjacent to the CRISPR array, many Cas genes were discovered which encode the effector enzymes of the CRISPR system. The CRISPR-mediated immunity consists of three phases: (1) adaptation, (2) CRISPR RNA (crRNA) maturation, and (3) interference [36]. CRISPR/Cas system is divided into two classes based on the composition of the interference complex, namely Class 1 that includes types I, III, and IV, and Class 2 that includes types II, V, and VI [37,38]. Class 1 system utilizes crRNA with multi-effector complex to cleave target genome sequence, whereas the Class 2 system utilizes single multi-domain Cas protein with crRNA for interference (Table 1) [39]. In these classes, the type II CRISPR system has been widely adopted by the scientific community for more accurate and rapid diagnosis of infections [40–42]. Recently, CRISPR/Cas12 and Cas13 systems have been used in the diagnosis of human infections including bacteria and viruses [8].
Diagnostic markers for glaucoma: a patent and literature review (2013-2019)
Published in Expert Opinion on Therapeutic Patents, 2019
Mutations in the myocilin gene called p. Q368X were detected by restriction fragment length polymorphism (RFLP) analysis. RFLP exploits variations in homologous DNA sequences, known as polymorphisms, to distinguish individuals, populations, or species, or to pinpoint the locations of genes within a sequence. In RFLP analysis, a DNA sample is digested into fragments by one or more restriction enzymes, and the resulting restriction fragments are then separated by gel electrophoresis according to their size. Undoubtedly, RFLP analysis has been an important early tool for genome mapping, localization of genes for genetic disorders, determination of risk for disease, and paternity testing. However, restriction analysis is a relatively expensive and time-consuming method, which might last over 3 days. As a result, faster and cheaper DNA sequencing technologies have been developed nowadays which made RFLP obsolete.