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Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births Genet. Mol. Biol.
Bhaumik,Pranami; Ghosh,Priyanka; Ghosh,Sujay; Feingold,Eleanor; Ozbek,Umut; Sarkar,Biswanath; Dey,Subrata Kumar.
Abstract Alzheimer's disease and Down syndrome often exhibit close association and predictively share common genetic risk-factors. Presenilin-1 (PSEN-1) and Apolipoprotein E (APOE) genes are associated with early and late onset of Alzheimer's disease, respectively. Presenilin −1 is involved in faithful chromosomal segregation. A higher frequency of the APOE ε4 allele has been reported among young mothers giving birth to Down syndrome children. In this study, 170 Down syndrome patients, grouped according to maternal meiotic stage of nondisjunction and maternal age at conception, and their parents were genotyped for PSEN-1 intron-8 and APOE polymorphisms. The control group consisted of 186 mothers of karyotypically normal children. The frequencies of the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Chromosome; Genetic polymorphism; Karyotype; Meiosis; Microsatellite markers.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000400577
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Karyotypic description of the stingless bee Oxytrigona cf. flaveola (Hymenoptera, Apidae, Meliponina) of a colony from Tangará da Serra, Mato Grosso State, Brazil Genet. Mol. Biol.
Krinski,Diones; Fernandes,Anderson; Rocha,Marla Piumbini; Pompolo,Silvia das Graças.
The aim was to broaden knowledge on the cytogenetics of the subtribe Meliponina, by furnishing cytogenetic data as a contribution to the characterization of bees from the genus Oxytrigona. Individuals of the species Oxytrigona cf. flaveola, members of a colony from Tangará da Serra, Mato Grosso State, Brazil, were studied. The chromosome number was 2n = 34, distributed among four chromosomal morphologies, with the karyotype formula 8m+8sm+16st+2t. Size heteromorphism in the first metacentric pair, subsequently confirmed by sequential staining with fluorochrome (DA/DAPI/CMA3), was apparent in all the examined individuals The nucleolar organizing regions (NORs) are possibly located in this metacentric chromosome pair. These data will contribute towards a...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Chromosome; Heteromorphism; Fluorochrome.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300020
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Cytogenetic characterization of the strongly electric Amazonian eel, Electrophorus electricus (Teleostei, Gymnotiformes), from the Brazilian rivers Amazon and Araguaia Genet. Mol. Biol.
Fonteles,Soraia B.A.; Lopes,Carlos E.; Akama,Alberto; Fernandes,Flora M.C.; Porto-Foresti,Fábio; Senhorini,José A.; Daniel-Silva,Maria de Fátima Z.; Foresti,Fausto; Almeida-Toledo,Lurdes Foresti de.
A karyotype analysis of the electric eel, Electrophorus electricus (Teleostei, Gymnotiformes), a strongly electric fish from northern South America, is presented. Two female specimens were analyzed, one from the Amazon River and one from the Araguaia River. The specimens had a chromosomal number of 2n = 52 (42M-SM + 10A). C-bands were present in a centromeric and pericentromeric position on part of the chromosomes; some interstitial C-bands were also present. Heteromorphic nucleolus organizer regions (NORs) were detected in two chromosome pairs of the specimen from the Amazon River. The chromosome number and karyotype characteristics are similar to those of other Gymnotidae species. The genera Electrophorus and Gymnotus are positioned as the basal lineages...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Chromosome; Fish; Gymnotidae; Electric eel.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000200010
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Chromosomal similarity between the Scaly-headed parrot (Pionus maximiliani), the Short-tailed parrot (Graydidascalus brachyurus) and the Yellow-faced parrot (Salvatoria xanthops) (Psittaciformes: Aves): a cytotaxonomic analysis Genet. Mol. Biol.
Caparroz,Renato; Duarte,José Maurício Barbanti.
Behavior, morphology, allozyme studies and DNA hybridization and sequencing data all suggest the independent evolution of the Old and New World parrots and support tribe status for the American species, although the phylogenetic relationships within this tribe are still poorly understood. A previous study has shown that the Yellow-faced parrot (Amazona xanthops Spix 1824) exhibits large karyotypic differences compared to the other Amazona species and suggested that this species should be renamed Salvatoria xanthops, although the relationships between S. xanthops and the other New World parrots remain unclear. In the present work, we describe the karyotype of the Scaly-headed parrot (Pionus maximiliani, Kuhl 1820) and the karyotype and C-banding pattern of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Chromosome; Karyotype; Cytotaxonomy; Psittaciformes; Parrots.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000400010
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Demarcation of informative chromosomes in tropical sweet corn inbred lines using microsatellite DNA markers Genet. Mol. Biol.
Kashiani,Pedram; Saleh,Ghizan; Panandam,Jothi Malar; Abdullah,Nur Ashikin Psyquay; Selamat,Ahmad.
A study of genetic variation among 10 pairs of chromosomes extracted from 13 tropical sweet corn inbred lines, using 99 microsatellite markers, revealed a wide range of genetic diversity. Allelic richness and the number of effective alleles per chromosome ranged from 2.78 to 4.33 and 1.96 to 3.47, respectively, with respective mean values of 3.62 and 2.73. According to the Shannon's information index (I) and Nei's gene diversity coefficient (Nei), Chromosome 10 was the most informative chromosome (I = 1.311 and Nei = 0.703), while Chromosome 2 possessed the least (I = 0.762 and Nei = 0.456). Based on linkage disequilibrium (LD) measurements for loci less than 50 cM apart on the same chromosome, all loci on Chromosomes 1, 6 and 7 were in equilibrium. Even...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Microsatellite; Inbred line; Chromosome; Genetic variation; Linkage disequilibrium.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400012
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Nuclear DNA content determination in Characiformes fish (Teleostei, Ostariophysi) from the Neotropical region Genet. Mol. Biol.
Carvalho,Margarida Lima; Oliveira,Claudio; Navarrete,Maria Clara; Froehlich,Otávio; Foresti,Fausto.
In the present study, nuclear DNA content was analyzed in 53 species of Characiformes fish from the Neotropical region. Diploid number ranged from 2n = 48 in Astyanax fasciatus, Gymnocorymbus ternetzi and Hyphessobrycon griemi to 2n = 102 in Potamorhina squamoralevis, with a modal number of 54 chromosomes. Nuclear DNA content ranged from 1.70 ± 0.04 pg of DNA per diploid nucleus in Acestrorhynchus pantaneiro to 3.94 ± 0.09 pg in Tetragonopterus chalceus. A general analysis showed a mean value of 2.9 pg of DNA per diploid nucleus. Very similar DNA content values were observed in the species of the family Cynodontidae which showed a variation of 3% between the two genera studied. Small variations were observed between populations of Gymnocorymbus ternetzi,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Nuclear DNA; DNA content; Chromosome; Fish; Evolution.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100010
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Intrachromosomal karyotype asymmetry in Orchidaceae Genet. Mol. Biol.
Medeiros-Neto,Enoque; Nollet,Felipe; Moraes,Ana Paula; Felix,Leonardo P..
Abstract The asymmetry indexes have helped cytotaxonomists to interpret and classify plant karyotypes for species delimitation efforts. However, there is no consensus about the best method to calculate the intrachromosomal asymmetry. The present study aimed to compare different intrachromosomal asymmetry indexes in order to indicate which are more efficient for the estimation of asymmetry in different groups of orchids. Besides, we aimed to compare our results with the Orchidaceae phylogenetic proposal to test the hypothesis of Stebbins (1971). Through a literature review, karyotypes were selected and analyzed comparatively with ideal karyotypes in a cluster analysis. All karyotypes showed some level of interchromosomal asymmetry, ranging from slightly...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Asymmetry index; Karyotype symmetry; Chromosome; Cytogenetic; Evolution.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000400610
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Nuclear DNA content in 20 species of Siluriformes (Teleostei: Ostariophysi) from the Neotropical region Genet. Mol. Biol.
Fenerich,Paulo César; Foresti,Fausto; Oliveira,Claudio.
In the present study, 20 species of Siluriformes fish were analyzed in order to determine their nuclear DNA content and compare these data with their diploid number. In addition, the extension and importance of the changes that occurred during the process of diversification in the group of Neotropical freshwater catfish were investigated. The only species studied of the family Doradidae, Rhinodoras d'orbignyi (2n = 58), presented 3.46 ± 0.13 pg of DNA. Among the species of the family Heptapteridae, the values of nuclear DNA content and the diploid numbers ranged from 1.13 ± 0.09 pg of DNA in Pimelodella sp. (2n = 46) to 2.38 ± 0.07 pg of DNA in Imparfinis mirini (2n = 58). The family Loricariidae showed the widest variation in diploid number and nuclear...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Nuclear DNA; DNA content; Chromosome; Fish; Evolution.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300008
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Distinct nonrandom patterns of chromosomal deletions in giant-cell lesions of bone Genet. Mol. Biol.
Baruffi,Marcelo Razera; Barbieri-Neto,J.; Pina-Neto,João Monteiro; Suerzut,C.E.; Casartelli,Cacilda.
Cytogenetic analyses were performed on a bone giant cell reparative granuloma (GCRG) and on three bone giant cell tumors (GCT). The present GCRG case is the second to be described cytogenetically. A modal chromosome number of 46 was observed in all samples. Clonal chromosome abnormalities were detected in all cases. The numerical alterations most frequently observed involved the loss of chromosomes 17 and 18. Among the structural anomalies observed, there was preferential involvement of chromosomes 6 and 10. Three GCT cases presented del(10)(p13) and two cases presented del(6)(q25) (1 GCRG and 1 GCT). These breakpoints mapped on 10p and 6q may harbour genes of importance in the development of bone giant cell tumors.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Bone; Giant-cell; Granuloma; Tumor; Chromosome.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000300002
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Description of the karyotypes of Stejneger's beaked whale (Mesoplodon stejnegeri) and Hubbs’ beaked whale (M. carlhubbsi) Genet. Mol. Biol.
Kurihara,Nozomi; Tajima,Yuko; Yamada,Tadasu K.; Matsuda,Ayaka; Matsuishi,Takashi.
Abstract The genus Mesoplodon (Cetacea: Odontoceti: Ziphiidae) is one of the few cetacean genera with the karyotype 2n = 42. The 2n = 42 karyotype of M. europaeus and M. carlhubbsi is largely consistent with the general cetacean karyotype 2n = 44, although other 2n = 42 karyotypes do not exhibit clear homologies with the general cetacean karyotype. Therefore, the chromosomes of Mesoplodon species may be the key to understanding cetacean karyological evolution. In the present study, the male karyotypes of M. stejnegeri and M. carlhubbsi were examined. In both species, the diploid number of the male karyotype was 42. Both species had the following characteristics: 1) a huge subtelocentric X chromosome with a large C-block; 2) a small metacentric Y...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Karyotype; Chromosome; Mesoplodon stejnegeri; Mesoplodon carlhubbsi.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500803
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The distribution of 45S rDNA sites in bird chromosomes suggests multiple evolutionary histories Genet. Mol. Biol.
Degrandi,Tiago Marafiga; Gunski,Ricardo José; Garnero,Analía del Valle; Oliveira,Edivaldo Herculano Correa de; Kretschmer,Rafael; Souza,Marcelo Santos de; Barcellos,Suziane Alves; Hass,Iris.
Abstract The distribution of 45S rDNA cluster in avian karyotypes varies in different aspects, such as position, number of bearer chromosomes, and bearers being macro- or microchromosomes. The present study investigated the patterns of variation in the 45S rDNA-bearer chromosomes of birds in order to understand the evolutionary dynamics of the cluster configuration and its contribution to the evolution of bird karyotypes. A total of 73 bird species were analyzed, including both published data and species for which rDNA-FISH was conducted for the first time. In most birds, the 45S rDNA clusters were located in a single pair of microchromosomes. Hence, the location of 45S rDNA in macrochromosomes, observed only in Neognathae species, seems to be a derived...
Tipo: Info:eu-repo/semantics/article Palavras-chave: FISH; Chromosome; Chromosome evolution; Cytogenetics; Aves.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400601
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Karyotype characterization, constitutive heterochromatin and nucleolus organizer regions of Paranaita opima (Coleoptera, Chrysomelidae, Alticinae) Genet. Mol. Biol.
Almeida,Mara Cristina de; Campaner,Carlos; Cella,Doralice Maria.
Species of the subtribe Oedionychina not only have a highly uniform diploid number of 2n = 22 (20+X+y) but have the karyotypic peculiarity of possessing extremely large sex chromosomes. We analyzed Paranaita opima embryos and gonadal cells to determine their diploid number, chromosomal morphology, type of sex determination system, constitutive heterochromatin pattern and which chromosomes bear nucleolus organizer regions (NORs). The diploid number of P. opima was 2n = 22 (20+XY/XX) with all chromosomes being metacentric. Chromosome pair 6 showed an interstitial secondary constriction on the short arm. The C-banding technique revealed centromeric constitutive heterochromatin in all chromosomes, which, in pair 6, extended up to the secondary constriction of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: C bands; Chromosome; Embryos; Fluorochromes; NOR.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300013
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Cytogenetics and sperm ultrastructure of Atelopus spumarius (Anura, Bufonidae) from the Brazilian Amazon Genet. Mol. Biol.
Siqueira,Sérgio; Aguiar Junior,Odair; Lima,Albertina Pimentel; Recco-Pimentel,Shirlei Maria.
The current taxonomy of most Atelopus species is based on morphological and color data only. Recent studies suggest that A. spumarius may represent a species complex assigned under the same name. Karyotypic data and description of sperm ultrastructure for 13 specimens of A. spumarius are presented here for the first time. A chromosomal analysis revealed 2n = 22 chromosomes, with centromeric heterochromatin in all pairs and a nucleolar organizer region (NOR) on the telomere of pair 7. The sperm was of the bufonoid type, presenting a filiform nucleus covered by an acrosomal complex and a mitochondrial collar in the neck region. The tail was composed of an axoneme, an undulating membrane and an axial rod. A karyotype analysis of A. spumarius showed the same...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Ag-NOR; Atelopus spumarius; C-band; Chromosome; Sperm ultrastructure.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400011
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Genotoxicity assessment of a pharmaceutical effluent using four bioassays Genet. Mol. Biol.
Bakare,Adekunle A.; Okunola,Alabi A.; Adetunji,Olusanmi A.; Jenmi,Hafeez B..
Pharmaceutical industries are among the major contributors to industrial waste. Their effluents when wrongly handled and disposed of endanger both human and environmental health. In this study, we investigated the potential genotoxicity of a pharmaceutical effluent, by using the Allium cepa, mouse- sperm morphology, bone marrow chromosome aberration (CA) and micronucleus (MN) assays. Some of the physico-chemical properties of the effluent were also determined. The A. cepa and the animal assays were respectively carried out at concentrations of 0.5, 1, 2.5, 5 and 10%; and 1, 5, 10, 25 and 50% of the effluent. There was a statistically different (p < 0.05), concentration-dependent inhibition of onion root growth and mitotic index, and induction of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Genotoxicity; Pharmaceutical effluent; Mouse; Allium cepa; Chromosome; Spermatozoa; Micronucleus.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000200026
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A new karyotype of Calomys (Rodentia, Sigmodontinae) Iheringia, Sér. Zool.
Lima,J. Fernando de S.; Kasahara,Sanae.
The genus Calomys Waterhouse, 1837 is widely distributed within South America, being found in Venezuela, Colombia, Peru, Bolivia, Brazil, Paraguay, Uruguay and Argentina. Specimens of Calomys were collected in Formoso do Araguaia, Tocantins, Brazil. For chromosome characterization standard staining techniques and as G-banding and nucleolar organizer region were used. The karyotype was 2n=46 and AN=66. The X chromosome is a medium metacentric and the Y chromosome a small acrocentric chromosome. Chromosome homologies with other species were observed. Probably, karyotype differences were basically due to Robertsonian rearrangements.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Calomys; Karyotype; Chromosome; Tocantins; Brazil.
Ano: 2001 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0073-47212001000200019
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Diferenças entre o Pseudocereal Chenopodium quinoa Wild. e a planta daninha Chenopodium album L., Chenopodiaceae. Infoteca-e
SPEHAR, C. R.; SANTOS, R. L. B.; NASSER, L. C. B..
bitstream/CPAC-2010/23956/1/comtec-61.pdf
Tipo: Comunicado Técnico (INFOTECA-E) Palavras-chave: Caracteristica agronomica; Chromosome; Adaptability; Cultivar; Yield; Caracteristica; Planta invasora; Cultura: Quinoa.; Chenopodium Quinoa; Cerrado; Quinoa.; Chenopodium album; Dormancy; Weeds..
Ano: 2001 URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/564521
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Karyotypic diversification in Mytilus mussels (Bivalvia: Mytilidae) inferred from chromosomal mapping of rRNA and histone gene clusters ArchiMer
Perez Garcia, Maria Concepcion; Moran, Paloma; Pasantes, Juan J..
Background: Mussels of the genus Mytilus present morphologically similar karyotypes that are presumably conserved. The absence of chromosome painting probes in bivalves makes difficult verifying this hypothesis. In this context, we comparatively mapped ribosomal RNA and histone gene families on the chromosomes of Mytilus edulis, M. galloprovincialis, M. trossulus and M. californianus by fluorescent in situ hybridization (FISH). Results: Major rRNA, core and linker histone gene clusters mapped to different chromosome pairs in the four taxa. In contrast, minor rRNA gene clusters showed a different behavior. In all Mytilus two of the 5S rDNA clusters mapped to the same chromosome pair and one of them showed overlapping signals with those corresponding to one...
Tipo: Text Palavras-chave: Mytilus; Chromosome; Fluorescent in situ hybridization; Histone genes; Ribosomal RNA genes; Fibre-FISH.
Ano: 2014 URL: http://archimer.ifremer.fr/doc/00204/31500/29906.pdf
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Comparative karyological study of cupped oyster species ArchiMer
Leitao, Alexandra; Boudry, Pierre; Labat, Jean-philippe; Thiriot-quievreux, Catherine.
Chromosomes of six cupped oyster species were studied using karyometric analysis alter conventional Giemsa staining, and silver staining, Karyotypes of Crassotrea angulata (nine metacentric and one submetacentric chromosome pairs), C. sikamea (nine metacentric and one submetacentric chromosome pairs), C. virginica (eight metacentric and two submetacentric chromosome pairs), C, ariakensis (eight metacentric and two submetacentric chromosome pairs), C, gasar (six metacentric and four submetacentric chromosome pairs), and Saccostrea commercialis (eight metacentric and two submetacentric chromosome pairs) are distinguishable by the number and position of the submetacentric chromosome pair and by the location of nucleolus organizer regions, Comparative...
Tipo: Text Palavras-chave: Bivalvia; Cytotaxonomy; Karyotype; Chromosome; Cupped oyster.
Ano: 1999 URL: http://archimer.ifremer.fr/doc/1999/publication-2737.pdf
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Chromosome loss in bi-parental progenies of tetraploid Pacific oyster Crassostrea gigas ArchiMer
Mccombie, Helen; Lapegue, Sylvie; Cornette, Florence; Ledu, Christophe; Boudry, Pierre.
Alterations of chromosome number have been observed in the somatic tissue of Crassostrea gigas diploids and artificial polyploids. Tetraploid oysters with abnormal chromosome numbers in some or all of their tissue are considered undesirable as parents either for triploids (produced via a cross with diploids and of aquacultural interest) or for tetraploid breeding. Aneuploid tetraploid oysters may confer the tendency to lose chromosomes and to revert to lower ploidy levels to their offspring. More directly, their offspring could have a lower ploidy because of potential links between somatic and gametic chromosome loss. The present study evaluated the phenomenon in six bi-parental tetraploid families bred from parents of differing somatic ploidy quality. The...
Tipo: Text Palavras-chave: Crassostrea gigas; Mitosis; Chromosome; Cytogenetics; Aneuploid; Polyptoid; Tetraploid; Oyster.
Ano: 2005 URL: http://archimer.ifremer.fr/doc/2005/publication-633.pdf
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Fluorescence in situ hybridization (FISH) or rDNA genes (5S and 18-5.8-28S) as a tool for chromosomal tagging and to assess the occurrence of somatic and sperm aneuploidy in Pacific oyster Crassostrea gigas ArchiMer
Benabdelmouna, Abdellah; Nadolna, Katarzyna; Ledu, Christophe.
Aneuploidy (or alteration of chromosome number) has been frequently described in diploid, triploid and tetraploid C. gigas. In diploid Pacific oysters, aneuploidy affects 1 to 3 chromosomes in up to 35% of the somatic cells and is positively correlated with inferior growth of the animal and thus could be associated with significant economic loss in this major aquaculture species. In polyploid Pacific oysters, aneuploidy was shown to be more heavily frequent and is linked to reversion to lower ploidy levels and is at the origin of aberrant gametes formation. In this context, identification of individual chromosomes involved in aneuploidy events both in somatic and germinal cells would be an important step towards the study of the exact occurrence of this...
Tipo: Text Palavras-chave: Chromosome; Aneuploidy; Genetic; Crassostrea gigas; Pacific oysters.
Ano: 2008 URL: http://archimer.ifremer.fr/doc/2008/acte-3502.pdf
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