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A Survey of Newer Gene Probing Techniques
Published in Victor A. Bernstam, Pocket Guide to GENE LEVEL DIAGNOSTICS in Clinical Practice, 2019
Human minisatellite and microsatellite probes have also proved useful in the analysis of genomic differences between tumors and unaffected tissues. These are reflected in the intensity of hybridization bands and in the emergence of novel bands detectable in tumor material, these differences appearing to be tumor specific rather than tissue specific.
Genomic Instability During Aging of Postmitotic Mammalian Cells
Published in Alvaro Macieira-Coelho, Molecular Basis of Aging, 2017
The comprehensive data do not firmly support mutations, sequence rearrangements, deletions, or amplifications occurring in the nuclear genome to any appreciable extent in aging postmitotic cells. Sequence changes probably do take place in senescent cells, but in the absence of replication they are unique for the cells that harbor them and are therefore quantitatively insignificant in a tissue. However, there is hope on the horizon for measuring somatic mutations due to the advent of transgenic mice and other model systems. The use of the transgenic mouse strains, developed by Vijg and associates240–244 to test some aspects of somatic mutation theories of aging, has already been discussed and will not be repeated here. This is also true for methods devised to analyze genomic instability of hypervariable minisatellite sequences.204–212 Lastly, there are PCR-based strategies that might bring positive results to studies of sequence rearrangement, deletions, and point mutations in nondividing cells.237
Enterocytozoon bieneusi
Published in Dongyou Liu, Laboratory Models for Foodborne Infections, 2017
Hirotake Mori, Aongart Mahittikorn
Nucleic-acid-based detection methods are more sensitive and specific than microscopy, and therefore have been widely applied.24,87 The most commonly used method is polymerase chain reaction (PCR). In PCR, the target pathogen DNA is bound by a specific set of primers, and the original few copies of DNA are amplified across several orders of magnitude, generating millions of copies of a particular DNA sequence. Molecular diagnostic tests for microsporidia are not routinely available in clinical diagnostic laboratories despite being widely used in research settings. PCR diagnosis of E. bieneusi was first reported by Zhu and colleagues.88 PCR methods can also be used for more in-depth analyses, such as genotypic identification at the subspecies level. The primers generally used for the diagnosis of E. bieneusi target the small and large subunits and internal transcribed spacer (ITS) region of the rRNA gene. The ITS region in particular has been used in many studies for detecting and genotyping E. bieneusi because of the high degree of sequence diversity in this region. Although the ITS sequence remains the gold standard for the analysis of E. bieneusi, additional gene markers are being sought and, more recently, a multilocus sequence typing assay targeting three microsatellite and one minisatellite markers has been developed.23,89
History of radiation genetics: light and darkness
Published in International Journal of Radiation Biology, 2019
Minisatellite DNA consists of tandem repeats of 10 to 100 bp core sequences and can form 500 to 20,000 bp-long blocks. These are located in many places in the human genome and are known to be highly polymorphic. Their spontaneous mutation rate is unusually high, and this has made them attractive sequences for geneticists to study in order to overcome problems associated with the poor statistical powers of their studies which often derive from a small number of mutants. In 1996, Dubrova et al. reported that the minisatellite mutation rate in offspring born to parents who resided in highly contaminated areas after the Chernobyl accident was elevated two-fold (Dubrova et al. 1996) and this finding generated intense discussions. However, studies by other researchers were at variance with the Dubrova results; e.g. in the offspring of A-bomb survivors (Kodaira et al. 2004), in children of Chernobyl clean-up workers (Livshits et al. 2001), and in children born to cancer survivors who were treated with radiation (Tawn et al. 2011) (see Bouffler et al. 2006 for review). Similar repeat sequence blocks are known in mice and are called expanded simple tandem repeat loci. Here too, a basic discordance exists regarding the optimum stage for mutation induction in male germ cells; namely, either pre-meiotic spermatogonia (Dubrova et al. 1998) or post-meiotic spermatids (Sadamoto et al. 1994; Fan et al. 1995). Mutations at microsatellite loci (repeats of a short sequence block composed of a few bases) are not observed following parental exposures to radiation (e.g. A-bomb survivors and their offspring: Kodaira et al. 2010).
Role of the mucins in pathogenesis of COPD: implications for therapy
Published in Expert Review of Respiratory Medicine, 2020
Federica Lo Bello, Antonio Ieni, Philip M. Hansbro, Paolo Ruggeri, Antonino Di Stefano, Francesco Nucera, Irene Coppolino, Francesco Monaco, Giovanni Tuccari, Ian M. Adcock, Gaetano Caramori
The human MUC8 gene is located on chromosome 12q24.3 in a sub-telomeric chromosomal location and has 5 exons and 4 introns. It has 6 different (polymorphic) minisatellites, termed MUC8-MS1 to -MS6 that are meiotically stable and subject to Mendelian inheritance, each with 2 different alleles [61]. In a case-control study performed on COPD patients (n = 123, FEV1/FVC post-bronchodilator <0.70) and control subjects (n = 229, 109 females, average age 59.5 years) there was a significant association between the presence of a MUC8-MS5 minisatellite polymorphism, represented by the presence of short alleles (2/2 repeats), and the risk of COPD [63].
Assessment of chimerism and immunomodulation to prevent post-transplantation relapse in childhood acute myeloblastic leukemia: is it the right approach?
Published in Pediatric Hematology and Oncology, 2020
Elie Cousin, Emmanuel Oger, Jean-Hugues Dalle, Yves Bertrand, Sophie Pertuisel, Cecile Pochon, Claire Galambrun, Pauline Simon, Benedicte Bruno, Catherine Paillard, Pascale Schneider, Pierre Rohrlich, Régis Peffault de La Tour, Claire Freycon, Jean-Francois Eliaou, Gilbert Semana, Philippe Jonveaux, Severine Drunat, Pierre Bordigoni, Virginie Gandemer
Forty-seven of 65 patients were tested by PCR for informative minisatellite regions and 12 by Taqman-based quantitative PCR. The cumulative incidence of relapse was significantly higher if the last chimerism was MC rather than CC (p = 0.005) (Figure 2A). Kinetics of chimerism for the relapsed patients is detailed in Figure 2B. The median interval between the last CC and relapse was 13.5 days [2-138]. The predicted probability of relapse based on the last chimerism level, was a weak prognostic factor of relapse (Figure 2C).