977 resultados para CHROMOSOME-ABNORMALITIES
Resumo:
BACKGROUND: Age-related loss in lower limb strength is related with impaired mobility. However, the association between decreased lower limb strength and gait biomechanical abnormalities is unclear. %In line with this, With respect to these statements, our study aimed to compare the maximum isokinetic voluntary strength (MIVS) of hip, knee and ankle of older women with and without history of falls. Also, we correlate the strength of each group with gait biomechanics. METHODS: The MIVS were assessed during concentric/concentric movements performed for hip, knee and ankle joints. Gait biomechanics (kinematic and electromyography) were assessed during 1-minute recorded during the volunteers walking on the treadmill at self-selected speed. Electromyographic signal was analyzed by the linear envelop after heel strike and before toe-off. The kinematic data were analyzed using the variables: step time, length and step width and ankle angle at heel strike, and hip angle at toe-off. RESULTS: In faller group, we found that a decreased hip abduction and adduction MIVS is associated with a higher tibialis anterior activation at initial stance (p =0.04 and r =-0.53 and p=0.04 and r=-0.52). CONCLUSION: Therefore, an impaired strength of hip could causes compensation in ankle stabilizer muscles activation at initial stance in older female fallers. © 2013 - IOS Press and the authors. All rights reserved.
Resumo:
Supernumerary chromosomes (B chromosomes) occur in approximately 15% of eukaryote species. Although these chromosomes have been extensively studied, knowledge concerning their specific molecular composition is lacking in most cases. The accumulation of repetitive DNAs is one remarkable characteristic of B chromosomes, and the occurrence of distinct types of multigene families, satellite DNAs and some transposable elements have been reported. Here, we describe the organization of repetitive DNAs in the A complement and B chromosome system in the grasshopper species Abracris flavolineata using classical cytogenetic techniques and FISH analysis using probes for five multigene families, telomeric repeats and repetitive C0t-1 DNA fractions. The 18S rRNA and H3 histone multigene families are highly variable and well distributed in A. flavolineata chromosomes, which contrasts with the conservation of U snRNA genes and less variable distribution of 5S rDNA sequences. The H3 histone gene was an extensively distributed with clusters occurring in all chromosomes. Repetitive DNAs were concentrated in C-positive regions, including the pericentromeric region and small chromosomal arms, with some occurrence in C-negative regions, but abundance was low in the B chromosome. Finally, the first demonstration of the U2 snRNA gene in B chromosomes in A. flavolineata may shed light on its possible origin. These results provide new information regarding chromosomal variability for repetitive DNAs in grasshoppers and the specific molecular composition of B chromosomes. © 2013 Bueno et al.
Resumo:
Background: The Leporinus genus, belonging to the Anostomidae family, is an interesting model for studies of sex chromosome evolution in fish, particularly because of the presence of heteromorphic sex chromosomes only in some species of the genus. In this study we used W chromosome-derived probes in a series of cross species chromosome painting experiments to try to understand events of sex chromosome evolution in this family.Results: W chromosome painting probes from Leporinus elongatus, L. macrocephalus and L. obtusidens were hybridized to each others chromosomes. The results showed signals along their W chromosomes and the use of L. elongatus W probe against L. macrocephalus and L. obtusidens also showed signals over the Z chromosome. No signals were observed when the later aforementioned probe was used in hybridization procedures against other four Anostomidae species without sex chromosomes.Conclusions: Our results demonstrate a common origin of sex chromosomes in L. elongatus, L. macrocephalus and L. obtusidens but suggest that the L. elongatus chromosome system is at a different evolutionary stage. The absence of signals in the species without differentiated sex chromosomes does not exclude the possibility of cryptic sex chromosomes, but they must contain other Leporinus W sequences than those described here. © 2013 Parise-Maltempi et al.; licensee BioMed Central Ltd.
Resumo:
Background: The accumulation of repetitive DNA during sex chromosome differentiation is a common feature of many eukaryotes and becomes more evident after recombination has been restricted or abolished. The accumulated repetitive sequences include multigene families, microsatellites, satellite DNAs and mobile elements, all of which are important for the structural remodeling of heterochromatin. In grasshoppers, derived sex chromosome systems, such as neo-XY♂/XX♀ and neo-X1X2Y♂/X 1X1X2X2♀, are frequently observed in the Melanoplinae subfamily. However, no studies concerning the evolution of sex chromosomes in Melanoplinae have addressed the role of the repetitive DNA sequences. To further investigate the evolution of sex chromosomes in grasshoppers, we used classical cytogenetic and FISH analyses to examine the repetitive DNA sequences in six phylogenetically related Melanoplinae species with X0♂/XX♀, neo-XY♂/XX♀ and neo-X1X2Y♂/X1X1X 2X2♀ sex chromosome systems. Results: Our data indicate a non-spreading of heterochromatic blocks and pool of repetitive DNAs (C 0 t-1 DNA) in the sex chromosomes; however, the spreading of multigene families among the neo-sex chromosomes of Eurotettix and Dichromatos was remarkable, particularly for 5S rDNA. In autosomes, FISH mapping of multigene families revealed distinct patterns of chromosomal organization at the intra- and intergenomic levels. Conclusions: These results suggest a common origin and subsequent differential accumulation of repetitive DNAs in the sex chromosomes of Dichromatos and an independent origin of the sex chromosomes of the neo-XY and neo-X1X2Y systems. Our data indicate a possible role for repetitive DNAs in the diversification of sex chromosome systems in grasshoppers. © 2013Palacios-Gimenez et al.; licensee BioMed Central Ltd.
Resumo:
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Resumo:
Pós-graduação em Pesquisa e Desenvolvimento (Biotecnologia Médica) - FMB
Resumo:
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Resumo:
Pós-graduação em Genética - IBILCE
Resumo:
Os cariótipos de Phyllostomus discolor e P. hastatus da Amazônia oriental são estudados por bandeamentos G, C, G/C sequencial e coloração Ag-NOR. Ambas as espécies apresentaram 2n = 32, sendo o complemento autossômico composto por 15 pares bi-armed em P. discolor e 14 bi-armed mais 1 par acrocêntrico em P. hastatus. O cromossomo X é um submetacêntrico médio e o Y é um pequeno acrocêntrico em ambas as espécies. O presente estudo encontrou apenas uma diferença entre os cariótipos de P. discolor e P. hastatus: o menor autossomo (par 15) é metacêntrico em discolor e acrocêntrico em hastatus. Este resultado é melhor explicado por uma inversão pericêntrica. O bandeamento C revelou heterocromatina constitutiva na região centromérica de todos os cromossomos, e os sítios NOR foram localizados na região distal do par 15, em ambas as espécies. O táxon P. discolor é considerado primitivo para o gênero Phyllostomus e supõe-se que a forma metacêntrica do par 15 seja a condição primitiva, que foi rearranjada por uma inversão pericêntrica, originando a forma acrocêntrica encontrada em P. hastatus.
Resumo:
A doença de Alzheimer (DA) é uma doença neurodegenerativa que provoca morte neuronal e consequente perda progressiva das funções cognitivas, reduzindo as capacidades de trabalho, interferindo na relação social e no comportamento do paciente. Entre as doenças causadoras de demência, a DA é a mais incidente que as de cunho vascular, numa proporção de 4:1, respectivamente. Além das terapias farmacológicas, os métodos diagnósticos auxiliam na identificação precoce da doença auxiliando o tratamento prévio, assim diminuído a progressão da doença. Atualmente estudos citogenéticos vêm demonstrando alterações cromossômicas em portadoras da DA e podem auxiliar no diagnósticos da doença. O objetivo desse trabalho foi verificar o potencial da análise cariotípica de linfócitos do sangue periférico como bioindicador diagnostico da doença de Alzheimer. Para a realização deste trabalho, utilizamos dois grupos de mulheres com 65 anos ou mais, sendo um grupo com (10) portadoras de DA e outro grupo (10) normais. Cada indivíduo foi submetida ao questionário socioeconômico, teste de rastreio cognitivo (MEEM) e à coleta de sangue venoso para cultura de linfócitos e análise cromossômica. Nossos resultados demonstram que o grupo de mulheres portadoras da DA apresentaram elevada taxa de monossomia e trissomia em relação às mulheres normais. Através de estudo de anamnese via questionário, verificamos o estilo de vida de ambos os grupos. Quando comparado a relação das alterações cromossômicas com o nível cognitivo do grupo DA, nós evidenciamos uma tendência inversamente proporcional entre o número de monossomia/trissomia e o desempenho cognitivo. Outro aspecto de nossas análises foi o papel de cada cromossomo ligado à DA. Os cromossomos 1, 14 e 21 não apresentaram trissomia e na verificação da frequência de monossomia, cada cromossomo possui frequência abaixo de 3 % de aneuploidia, ou seja, os cromossomos estudados não possuem uma grande representatividade nas alterações cromossômicas encontradas no estudo.
Resumo:
Several types of sex chromosome systems have been recorded among Gymnotiformes, including male and female heterogamety, simple and multiple sex chromosomes, and different mechanisms of origin and evolution. The 1X1X2X2/X1X2Y systems identified in three species of this order are considered homoplasic for the group. In the genus Brachyhypopomus, only B. gauderio presented this type of system. Herein we describe the karyotypes of Brachyhypopomus pinnicaudatus and B. n. sp. FLAV, which have an X1X1X2X2/X1X2Y sex chromosome system that evolved via fusion between an autosome and the Y chromosome. The morphology of the chromosomes and the meiotic pairing suggest that the sex chromosomes of B. gauderio and B. pinnicaudatus have a common origin, whereas in B. n. sp. FLAV the sex chromosome system evolved independently. However, we cannot discard the possibility of common origin followed by distinct processes of differentiation. The identification of two new karyotypes with an X1X1X2X2/X1X2Y sex chromosome system in Gymnotiformes makes it the most common among the karyotyped species of the group. Comparisons of these karyotypes and the evolutionary history of the taxa indicate independent origins for their sex chromosomes systems. The recurrent emergence of the X1X1X2X2/X1X2Y system may represent sex chromosomes turnover events in Gymnotiformes.
Resumo:
The frequency of spontaneous micronucleus (MN) formation in fish species needs to be determined to evaluate their usefulness for genotoxic biomonitoring. The definition of a good bioindicator takes into account the current knowledge of its metabolic traits as well as other factors including its feeding behavior and relationship to the environment. In this study, we compared the basal frequencies of micronucleated erythrocytes and nuclear abnormalities (NA) among different species of the fish Order Gymnotiformes (Rhamphichthys marmoratus, Steatogenys elegans, Sternopygus macrurus, Parapteronotus hasemani, Gymnotus mamiraua, Gymnotus arapaima, Brachyhypopomus beebei, Brachyhypopomus n. sp. BENN) sampled in several localities of the Eastern Amazon. A baseline of MN and NA frequency in these fish was determined, enabling the identification of potentially useful species as models for genotoxicity studies. Only one impacted sample collected at a site in the River Caripetuba showed a significant number of NAs, which may be due to the release of wastewater by neighbouring mining industries and by the burnt fuel released by the small boats used by a local community. Our results may provide support for further studies in areas of the Eastern Amazon affected by mining, deforestation and other anthropogenic activities.
Resumo:
The frequencies of micronuclei (MN) and morphological nuclear abnormalities (NA) in erythrocytes in the peripheral blood of tambaqui (Colossoma macropomum), treated with 2 mg.L-1 methylmercury (MeHg), were analyzed. Two groups (nine specimens in each) were exposed to MeHg for different periods (group A - 24 h; group B - 120 h). A third group served as negative control (group C, untreated; n = 9). Although, when compared to the control group there were no significant differences in MN frequency in the treated groups, for NA, the differences between the frequencies of group B (treated for 120 h) and the control group were extremely significant (p < 0.02), thus demonstrating the potentially adverse effects of MeHg on C. macropomum erythrocytes after prolonged exposure.
Resumo:
Estudos citogenéticos foram desenvolvidos em Prochilodus lineatus (Valenciennes 1836), os quais descrevem um interessante sistema de pequenos cromossomos supranumerários. O objetivo deste trabalho foi estudar a frequência e morfologia dos cromossomos B em indivíduos a partir da linhagem parental e os padrões de herança destes elementos em indivíduos obtidos a partir de cruzamentos controlados na espécie P. lineatus. A taxa de transmissão dos cromossomos B revelaram um kB=0,388 para o tipo acrocêntrico, kB=0,507 para o tipo metacêntrico e kB=0,526 submetacêntrico. Os resultados obtidos levantam hipóteses de que os cromossomos B do tipo acrocêntrico se encontram em fase de extinção, enquanto que os supranumerários do tipo metacêntrico e submetacêntrico encontram-se em fase de neutralização, seguindo uma taxa de transmissão Mendeliana.