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Autorzy:
Goldman-Mazur, Sarah
Vesole, David
Jurczyszyn, Artur
Opis:
Multiple myeloma (MM) is an incurable haematological malignancy affecting approximately 7:100,000 people. Monoclonal gammopathy of undetermined significance (MGUS) and ‘smouldering’ MM precede symptomatic MM. Cytogenetics in MM is the most powerful prognostication tool incorporated into different classifications, including the Revised International Staging System (R-ISS) and the Mayo Clinic Risk Stratification for Multiple Myeloma (mSMART). Methods commonly used to test for cytogenetic aberrations include conventional karyotyping and fluorescence in situ hybridisation (FISH), although the difficulty of obtaining metaphases in plasma cells results in low yields. Therefore, new genomic tools are essential to explore the complex landscape of genetic alterations in MM. These include next generation sequencing, a highly sensitive method to monitor minimal residual disease. The serial evolution of MGUS to MM is accompanied by a range of heterogenous genetic abnormalities, divided into primary (involving mostly chromosome 14 translocations and trisomies) and secondary genetic aberration events (involving mostly 17p, 1p, 13q deletions, 1q gain, or MYC translocations). Based on the primary genetic aberration results, strong prognostic features of MM have been identified with distinct clinical characteristics. High risk aberrations include 17p deletion, t(4;14), t(14;16), t(14;20) and chromosome 1 abnormalities. The incorporation of novel drugs and maintenance strategies in conjunction with autologous stem cell transplantation partially overcome the adverse effect of some of these genetic aberrations. Nonetheless, survival remains worse in this group compared to standard risk patients. Clinical decisions regarding treatment should be based on the cytogenetic results. The establishment of individualised and mutation-targeted therapies are of the greatest importance in future studies.
Dostawca treści:
Repozytorium Uniwersytetu Jagiellońskiego
Artykuł
Tytuł:
Cytogenetics, embryology and fertility of red clover [Trifolium pratense L.] with short flowers and anthocyanin spots on the leaves
Autorzy:
Kazimierski, T
Kazimierska, E.M.
Tematy:
red clover
anthocyanin spot
Trifolium pratense
fertility
cytogenetics
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Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Powiązania:
https://bibliotekanauki.pl/articles/2047726.pdf  Link otwiera się w nowym oknie
Opis:
Anthocyanin spot on the leaves of red clover is inherited independently of light spot and uniform leaf colour. The gene determining anthocyanin spot is probably localized on the other chromosome than the gene determining light spot on the leaves. A short flower tube is also determined by a single recessive gene of a pleiotropic action. It simultaneously causes reduction of pistil style, thickening of the endothecium layer in anthers - entails their indehiscence, pollen grain-agglutination and often deformation, no division of part of pollen grains into a vegetative and generative cells as well as germination of single grains in pollen sacks. The changes in the structure of endothecium and pollen grains cause almost complete male and female infertility of plants with short flower tubes.
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Look at gene, chromosome and genome – molecular cytogenetic investigations
Autorzy:
Małuszyńska, Joanna
Tematy:
chromosome
cytogenetics
DNA
FISH
genome research
chromosome aberrations
evolution
molecular biology
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Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Powiązania:
https://bibliotekanauki.pl/articles/703863.pdf  Link otwiera się w nowym oknie
Opis:
Cytogenetics is complementary to genetic and molecular analysis of genome structure and function. From the beginning it has been mainly used for identification of chromosomes and karyotype construction. Most significant for the progress in cytogenetics was development of chromosome banding techniques and in situ hybridization, especially fluorescent in situ hybridization (FISH) and its different modifications which have become the most important techniques in molecular cytogenetics. FISH allows physical gene mapping and localization of different non-coding DNA sequences on chromosomes and interphase nuclei. Repetitive DNA sequences can generate unique FISH-signal patterns on individual chromosomes valuable for karyotyping and phylogenetic analysis. These studies have important implications for basic research and practical applications. The understanding of the structure, function, organization and evolution of genomes enabled many new cytogenetic applications to both medicine and agriculture, particularly in diagnosis and plant breeding.
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Indentification of three different chromosomal additions by chromosome painting using fluorescence in situ hybridization [FISH] technique
Autorzy:
Bocian, E
Stankiewicz, P
Stanczak, H
Obersztyn, E
Mazurczak, T
Tematy:
chromosomal addition
fluorescence in situ hybridization method
hybridization
chromosome painting
cytogenetics
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Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Powiązania:
https://bibliotekanauki.pl/articles/2047283.pdf  Link otwiera się w nowym oknie
Opis:
Fluorescence in situ hybridization (FISH) is a very useful method for assessing chromosome rearrangements. When neither banding pattern nor clinical symptoms are sufficient to determine the origin of additional chromosomal fragment, FISH with multiple chromosome-specific libraries (chromosome painting), allows to solve this diagnostic problem rapidly. Three chromosomal additions, 7q+, 13p+ and 22q+, found in routine cytogenetic studies performed in children with phenotypic abnormalities were analysed using FISH. This technique documented the origin of the extra material to be derived from chromosome 16[der(7)t(7; 16)(q36.3;p 13.11)], 18[der(13)t(13; 18)(p12;q 12.2)] and 22[dup(22)(q11.2q13.1)], respectively. In two cases the abnormality arose de novo, while in the third case the product of translocation t(13;18) was maternal by origin. It was present in 30% of mother's lymphocytes, and in 70% of them a balanced Robertsonian translocation t(13q;15q) was found. In the presented cases the chromosome analysis with both traditional banding and chromosome painting techniques, allowed to establish final clinical diagnosis.
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Similarity of chromosome structure among Populus tremula var. davidiana, Populus alba and their hybrids revealed by FISH karyotype analysis
Autorzy:
Kim, Y.G.
Kwon, S.H.
Kang, H.I.
Yoem, D.B.
Kim, K.W.
Kim, H.H.
Kang, K.S.
Tematy:
Karyotype analysis
Fluorescence in situ hybridization
Ribosomal DNA site
Poplar
Cytogenetics
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Wydawca:
Polska Akademia Nauk. Instytut Dendrologii PAN
Powiązania:
https://bibliotekanauki.pl/articles/2077655.pdf  Link otwiera się w nowym oknie
Opis:
The genus Populus is one of the important tree species in Korean peninsula and many other coun- tries in the world. It represents the model species of forest genomics because it grows fast and reproduces rapidly. In this reason, their genetic characteristics have been well studied and the whole genome has been sequenced completely in some species. However, cytogenetic study of the genus Populus has been limited. In the present study, karyotypes of Korean aspen (P. tremula var. davidiana), Silver poplar (P. alba) and their two hybrids, Suwon aspen (P. tremula var. glandulosa) and Hyun aspen (P. alba × P. tremula var. glandulsa) were analyzed by means of the fluorescence in situ hybridization (FISH). Root samples were collected from mature trees in the demonstration forest, located at Suwon, Kyonggi province in South Korea. The fresh root cells were examined by DAPI (4’,6-diamidino-2-phenylindole) staining and FISH using 45S rDNA and 5S rDNA probes. As the results, the chromosome compositions of all species were the same as 2n = 38. The karyotype formulas of Korean aspen, Silver poplar, Suwon aspen and Hyun aspen were 28m + 6sm + 4st (2sat), 26m + 10sm (2sat) + 2st, 26m + 12sm (2sat) and 28m + 10sm (2sat), respectively. The four species had one pair of 45S rDNA site and one pair of 5S rDNA site in common with FISH karyotypes. The similarity of FISH karyotypes among four species indicated close genetic relationship and coexistence of their interspecific hybrids. This research will provide genetic information on cytogenetic research of Populus and genetic mapping that can be applied to the breeding program of Populus in the near future.
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Karyotype evolution of the established RES [Ren Embryonis Suis] cell line
Autorzy:
Dziekanowska, D
Scheller, S.
Rokicka, A.
Legowik, E.
Tematy:
pig
cell line
Sus scrofa
polyploidy
kidney
evolution
cytogenetics
chromosome alteration
karyotype
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Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Powiązania:
https://bibliotekanauki.pl/articles/2048146.pdf  Link otwiera się w nowym oknie
Opis:
The present paper refers to the previously reported cytogenetic studies of a cell line derived from an embryonic pig kidney and deals with chromosome alterations suddenly and spontaneously occurring in this line as structural rearrangements and polyploidy. Successive stages of karyotype evolution, domination of abnormal karyotype and this population dynamics are described.
Dostawca treści:
Biblioteka Nauki
Artykuł
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