Search results for "Chromosome aberration"
showing 10 items of 160 documents
Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterization
2006
Methods presently employed for detection of large rearrangements have several drawbacks, such as the amount of sample and time required, technical difficulty, or the probability of false-negative carriers. Using the low-density-lipoprotein receptor (LDLR) gene, whose mutations are responsible for familial hypercholesterolemia (FH), we have developed a procedure to detect large rearrangements in this gene based on semiquantitative PCR, with important improvements as compared to previous methods. Our method covers the complete LDLR gene and introduces an internal control in the reaction. The procedure discriminates the four different large rearrangements (two deletions and two insertions) tha…
Eradicating Mosquitoes using Translocations
1969
CHROMOSOMAL translocations have been suggested1,2 as useful mechanisms for genetic control: translocation heterozygotes produce fewer offspring because some of their gametes do not receive a full chromosomal complement. The resultant semisterility has been observed in many plants and animals, chiefly after irradiation or other treatments of laboratory stocks but only rarely in natural populations. Spontaneous translocations originating in a field population are usually eliminated3 quickly because of the lower productivity they confer on the heterozygotes. They can become fixed in all members of a population only if it is small and isolated4.
Eradicating Mosquitoes using Translocations: a First Field Experiment
1972
THEORETICAL considerations have led to the assumption that chromosomal translocations with ensuing semisterility could be used to control pests1–3. Inversions could have the same effect in animals and plants in which crossing over occurs in both sexes4. Many translocations of different type and with various degrees of sterility have been produced in the mosquito Culex pipiens5–8. Preliminary laboratory experiments with these translocations have shown that a cage population can be diminished and finally exterminated after a few generations by the release of translocation heterozygotes into the population9.
Inherited semisterility for control of harmful insects. I. Productions of semisterility due to translocation in the mosquito,Culex pipiens L., by X-r…
1971
In Anbetracht der theoretischen und in einem Freilandexperiment bereits erwiesenen Moglichkeit der Bekampfung von Schadinsekten durch Freilassung semisteriler Tiere wurde die Produktion von Translokationen und damit verbundener Semisterilitat bei der StechmuckeCulex pipiens untersucht. Die Totalrate der erzeugten Translokationen liegt bei Stechmucken im Vergleich zuDrosophila auffallend hoch. Es besteht offenbar eine Korrelation zwischen der Gesamtlange der Chromosomen und der Translokationsrate.
Genetic disorders and periodontal health: A literature review
2009
Periodontal diseases include a group of infl ammatory diseases characterized by progressive destruction of the periodontium. Dental plaque is the initiator of periodontal disease, but disease severity and response to treatment are determined predominantly by host-based risk factors. Genetic disorders can modify the host defense mechanisms or infl uence the homeostasis of the periodontium during childhood, thus increasing patients’ susceptibility to periodontal disease. The periodontal manifestations of these disorders may persist into adulthood. When dealing with periodontal problems, particularly in children and adolescents, it is advisable to establish a differential diagnosis of periodon…
Micronucleus frequencies and clonogenic cell survival in TK6 cells exposed to changing dose rates under controlled temperature conditions.
2014
In most exposure scenarios the dose rate of exposure is not constant. Despite this, very little information exists on the possible biological effects of exposing cells to radiation under the conditions of a changing dose rate. The current study highlights interesting effects following exposure under these conditions.We constructed a new exposure facility that allows exposing cells inside an incubator and used it to irradiate human lymphoblastoid TK6 cells both after a moderate (0.48 Gy) and a high (1.1 Gy) dose, where the change in dose rate was, respectively, ≈ 17-fold (2.2-37 mGy/min) and ≈ 39-fold (2.7-106 mGy/min). Clonogenic survival and micronuclei (MN) induction were the chosen endpo…
MICRODISSECTION AND DOP-PCR-BASED REVERSE CHROMOSOME PAINTING AS A FAST AND RELIABLE STRATEGY IN THE ANALYSIS OF VARIOUS STRUCTURAL CHROMOSOME ABNORM…
1996
Reverse chromosome painting has become a powerful tool in clinical genetics for the characterization of cytogenetically unclassifiable aberrations. In this report, the application of a sensitive and rapid procedure for the complete and precise identification of four different de novo structural chromosome abnormalities is presented. These chromosome rearrangements include a marker derived from chromosome 3(cen-q11), an interstitial deletion of chromosome 13 [del(13)(q14q22)], an unbalanced translocation [46,XY, -4, +der(4)t(4;8)(p 15.2;p21.1)] leading to Wolf-Hirschhorn syndrome, and a partial inverted duplication in conjunction with a partial deletion of chromosome 5p [46,XX, -5, +der(5)(:…
In vitro cytogenetic and genotoxic effects of curcumin on human peripheral blood lymphocytes
2012
International audience; Curcumin has shown a wide range of properties such as anti-inflammatory and anti-carcinogenic properties. Many of these effects, mainly the anti-carcinogenic effect, could be linked to its anti-oxidant effects. Nevertheless, some studies suggest that this natural compound possesses both pro- and anti-oxidative effects and that curcumin could be a genotoxic agent for some cell lines. We evaluated the genetic damage induced by curcumin to human lymphocytes exposed to increasing concentrations (0-50 μg/ml) of curcumin. Biomarkers such as chromosome aberrations (CAs) and sister chromatid exchange (SCE) were analyzed. In addition to the cytogenetic analysis, the effect of…
Bleomycin genotoxicity alteration by glutathione and cytochrome P-450 cellular content in respiratory proficient and deficient strains of Saccharomyc…
1999
The genotoxic effects of the antiblastic drug bleomycin were studied in the D7 strain of Saccharomyces cerevisiae and on its derivative mitochondrial mutant rho degree at different cellular concentrations of two drug metabolizing systems, glutathione (GSH) and cytochrome P-450. Bleomycin mutagenic activity was evaluated as frequencies of mitotic gene conversion, reversion and total aberrations under different physiological conditions. In the D7 strain, petite mutant induction was also detected. This is important due to the role of the mitochondrial genome in cancer induction, ageing and degenerative diseases. Both strains showed higher convertant than revertant induction. At high cytochrome…
Compromised repair of radiation-induced DNA double-strand breaks in Fanconi anemia fibroblasts in G2
2020
Fanconi anemia (FA) is a rare chromosomal instability syndrome with various clinical features and high cancer incidence. Despite being a DNA repair disorder syndrome and a frequently observed clinical hypersensitivity of FA patients towards ionizing radiation, the experimental evidence regarding the efficiency of radiation-induced DNA double-strand break (DSB) repair in FA is very controversial. Here, we performed a thorough analysis of the repair of radiation-induced DSBs in G1 and G2 in FA fibroblasts of complementation groups A, C, D1 (BRCA2), D2, E, F, G and P (SLX4) in comparison to normal human lung and skin fibroblasts. γH2AX, 53BP1, or RPA foci quantification after X-irradiation was…