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1

Molecular methods for rapid detection of aneuploidy

100%
Dudarewicz L., Holzgreve W., Jeziorowska A., Jakubowski L., Zimmermann B.
Journal of Applied Genetics
|
2005
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vol. 46
|
issue 2
207-215
EN
Rapid molecular biological methods for prenatal diagnosis of the most common aneuploidies, collectively known as rapid aneuploidy testing, are compared in this review. We discuss methodological problems and limitations of these various methods. All these techniques are believed to be accurate and carry a low risk of misdiagnosis, but they differ in terms of labour-intensity and amenability to automation and high throughput testing. The question how to apply them safely and economically in a clinical setting has not been answered yet. The discussed techniques are so far not used as stand-alone tests, but some of them are routinely applied as a preliminary test that shortens the waiting time for classic cytogenetic karyotyping. In the future, mainly because of economical reasons, these methods may replace cytogenetics in the category of patients who make up the majority of those currently offered prenatal karyotyping: patients with moderately increased risk and no abnormalities detected by ultrasound.
2

Somaclonal selection of physiological mutants and several problems related to rice cell breeding

86%
Kinoshita T., Mori K.
Journal of Applied Genetics
|
1998
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vol. 39
|
issue 1
9-35
EN
Tolerance to a new herbicide, pyributycarb, was evaluated both at the plant and cellular levels. Several highly or moderately tolerant strains chosen at the plant level, showed a parallel relation of to tolerance at the cellular level. However, on the whole, correlation between total tolerance indices and survival rates of calli was not significant in 18 out of the 80 studied strains. As a result of somaclonal selection for two herbicides, lines NB-200 and NM-100 were regenerated from the tolerant calli screened with benthiocarb at 200 ppm, and molinate at 100 ppm, respectively. In the R2 generation, both the lines displaned a stable tolerance both at the plant and cellular levels. Thus the highly tolerant mutant lines were developed from a moderately tolerant line, N-61, via in vitro selection. To achieve a short-cut method in the interspecific genetic exchange, a series of techniques related to cell fusion were established in rice and related species. Two kinds of somatic hybrids between the cultivar Kitaake and tetraploid Oryza species, O. punctata and O. officinalis, were successfully produced. Among the somatic hybrid plants, a wide range of chromosomal variation was observed. Aneuploid plants with a chromosome number around 2n = 72 (hexaploid), which are expected from a symmetric fusion between diploid and tetraploid strains, were obtained showing mixoploidy within a plant. Most of the somatic hybrids were characterized by intermediate features of plant-type showing high sterility, shattering of spikelets and reduced plant height. As an exception, a diploid plant, which was identified by RFLP analysis using the rDNA gene probe, closely resembled Kitaake and produced viable seeds. A tetraploid hybrid plant was also promising for the introduction of economically important characters through the reduction of chromosome numbers by doubled haploids. Gametoclonal variation and gamma radiation was applied to Kitaake. The mutation frequency was prominently increased by gamma ray treatment, especially at high doses of 200 Gy or 300 Gy. In the M3R2 or M4R3 generations, most of the variants showed unfavourable characters. Most of the mutant characters were governed by single or double recessive genes. Several mutants such as short culm and early flowering time might be used for rice breeding.
3

Cytogenetic perspective of ageing and longevity in men and women

72%
Zietkiewicz E., Wojda A., Witt M.
Journal of Applied Genetics
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2009
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vol. 50
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issue 3
261-273
EN
Analysis of relationships between the ageing cell phenotype and the age of cell donors is one of the ways towards understanding the link between cellular and organismal ageing. Cytogenetically, ageing is associated with a number of gross cellular changes, including altered size and morphology, genomic instability, and changes in expression and proliferation. Genomic instability can be easily assessed by analyzing the level of cytogenetic aberrations. In this review, we focus on the differences in the level and profile of cytogenetic aberrations observed in donors of different age and gender. Centenarians are a small fraction of the population at the extreme of human longevity. Their inclusion in such studies may shed light on one of the basic questions: whether genome stability is better maintained in successfully aged individuals compared to the rest of the population. At the same time, comparing the profile of age-related amount of chromosomal aberrations in men and women may help explaining the commonly observed gender differences in longevity.
4
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Aneuploidy, chromosomal missegregation, and cell cycle reentry in Alzheimer's disease

72%
Zekanowski C., Wojda U.
Acta Neurobiologiae Experimentalis
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2009
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vol. 69
|
issue 2
232-253
EN
Alzheimer's disease (AD) is a neurodegenerative disorder with a complex etiology and pathogenesis. Chromosome missegregation was proposed two decades ago to be responsible for neurodegeneration in AD patients. It was speculated that the aneuploidy is a result of aberrant cell cycle of neuronal progenitors during adult neurogenesis and/or of mature neurons. There is mounting evidence of increased rate of general aneuploidy and cell cycle reentry in the AD patients' brains, with area-specific pattern. In this review, we discuss the involvement of chromosome instability, genome damage and cell cycle impairment in AD pathology.
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