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Tadei, Wanderli P
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Id: lil-782048
Autor: Cornel, Anthony J; Brisco, Katherine K; Tadei, Wanderli P; Secundino, Nágila FC; Rafael, Miriam S; Galardo, Allan KR; Medeiros, Jansen F; Pessoa, Felipe AC; Ríos-Velásquez, Claudia M; Lee, Yoosook; Pimenta, Paulo FP; Lanzaro, Gregory C.
Título: Anopheles darlingi polytene chromosomes: revised maps including newly described inversions and evidence for population structure in Manaus
Fonte: Mem. Inst. Oswaldo Cruz;111(5):335-346, May 2016. tab, graf.
Idioma: en.
Resumo: Salivary gland polytene chromosomes of 4th instar Anopheles darlingi Root were examined from multiple locations in the Brazilian Amazon. Minor modifications were made to existing polytene photomaps. These included changes to the breakpoint positions of several previously described paracentric inversions and descriptions of four new paracentric inversions, two on the right arm of chromosome 3 and two on the left arm of chromosome 3 that were found in multiple locations. A total of 18 inversions on the X (n = 1) chromosome, chromosome 2 (n = 7) and 3 (n = 11) were scored for 83 individuals from Manaus, Macapá and Porto Velho municipalities. The frequency of 2Ra inversion karyotypes in Manaus shows significant deficiency of heterozygotes (p < 0.0009). No significant linkage disequilibrium was found between inversions on chromosome 2 and 3. We hypothesize that at least two sympatric subpopulations exist within the An. darlingi population at Manaus based on inversion frequencies.
Descritores: Anopheles/genética
Inversão Cromossômica/genética
Insetos Vetores/genética
Cromossomos Politênicos/genética
Glândulas Salivares
-Anopheles/classificação
Brasil
Mapeamento Cromossômico
Insetos Vetores/classificação
Limites: Animais
Responsável: BR1.1 - BIREME


  2 / 24 LILACS  
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Texto completo SciELO Chile
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Id: lil-595286
Autor: POGGI, HELENA; HONORATO, JOSEFINA; ROMEO, ELIANA; ZÚÑIGA, PAMELA; QUIROGA, TERESA; LAGOS, MARCELA.
Título: Análisis de las inversiones del intrón 1 y 22 y secuenciación del gen F8 para el diagnóstico genético-molecular de hemofilia A en Chile / Introns 1 and 22 inversions and F8 gene sequencing for molecular diagnosis of hemophilia A in Chile
Fonte: Rev. méd. Chile;139(2):189-196, feb. 2011. ilus, tab.
Idioma: es.
Resumo: Background: Hemophilia A is an inherited disorder caused by alterations in factor VIII gene (F8) located on the X-chromosome, the intron 22 inversion being the most common mutation. The rest are predominantly point mutations distributed along this large gene of 26 exons. Aim: To implement a molecular diagnostic test to detect mutations in the F8 gene in Chilean patients with Hemophilia A. Material and Methods: To validate the testing methods, we analyzed samples with intron 22 and intron 1 inversion, and with point mutations previously studied, as well as one subject without Hemophilia. We also studied unrelated Chilean patients with Hemophilia A and their female relatives for carrier testing. Intron 22 and intron 1 inversions were studied by long distance polymerase chain reaction (PCR) and point mutations by sequencing the coding and promoter regions of the F8 gene. Results: The results obtained in all samples used for validation were concordant with those obtained previously. In the Chilean patients, the intron 22 inversion and point mutations previously described were observed. In 6 out of 9 patients with mild Hemophilia A we found the same mutation (Arg2159Cys) in exon 23, which has been described as prevalent in mild Hemophilia A. Conclusions: The analysis of intron 22 and intron 1 inversions, as well as of point mutations in the F8 gene will help us to confirm the diagnosis in patients with severe, moderate and mild Hemophilia A, and also it will allow us to perform carrier testing and to provide better genetic counseling.
Descritores: Inversão Cromossômica
Fator VIII/genética
Hemofilia A/diagnóstico
Íntrons/genética
-Hemofilia A/genética
Triagem de Portadores Genéticos/métodos
Mutação Puntual/genética
Reação em Cadeia da Polimerase/métodos
Limites: Feminino
Humanos
Masculino
Tipo de Publ: Estudo de Validação
Responsável: BR1.1 - BIREME


  3 / 24 LILACS  
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Id: lil-567704
Autor: De Brasi, Carlos; Rossetti, Liliana; Radic, Pamela; Larripa, Irene; Candela, Miguel; Pérez Bianco, Raúl; Tezanos Pinto, Miguel.
Título: Genética de la hemofilia humana. Diagnóstico molecular de defectos en los genes de los factores VIII y IX de coagulación / Genetics of human haemophilia. Molecular diagnosis of defects affecting coagulation factors VIII and IX
Fonte: Bol. Acad. Nac. Med. B.Aires;83(2):325-334, jul.-dic. 2005. tab.
Idioma: es.
Conferência: Apresentado em: Sesión Pública Ordinaria, Ciudad Autónoma de Buenos Aires, 7 nov. 2005.
Resumo: La hemofilia A (HA) y B (HB) son enfermedades hemorrágicas hereditarias ligadas al sexo causadas por defectos de los factores VIII y IX, respectivamente. Excepto grandes inversiones recurrentes involucradas en la mitad de las HA severas, el resto de las hemofilias son causadas por distintos tipos de mutaciones grandes y pequeñas. Fueron estudiadas 70 familias con HA severa (se), 6 con seHB, 1 con HA moderada-leve (m) y 2 con mHB. Primero, en seHA, se estudio la inversión del intrón 22 (Inv22) usando un nuevo abordaje basado en PCR inversa. En los casos negativos para las inversiones se estudiaron primariamente las grandes deleciones y secundariamente las mutaciones pequeñas. En familias con HA, encontramos la Inv22 en 43 por ciento de las seHAs, una única inversión del intrón 1, 10 grandes deleciones (catorce por ciento)y 23 mutaciones pequeñas (incluyendo 10 deleciones, 3 inserciones, 4 cambios nonsense, 5 missense y 1 de splicing); y en HB, 1 deleción afectando un sitio de splicing, 4 missense y 3 nonsense. Este esquema de caracterización de mutaciones permite un estudio y análisis molecular preciso de HA y HB y beneficiará tanto al asesoramiento genético como a la provisión de información clave para el diseño del tratamiento.
Descritores: Fator VIII/genética
Hemofilia A/classificação
Hemofilia A/genética
Hemofilia B/classificação
Hemofilia B/genética
Biologia Molecular
-Argentina
Sequência de Bases
Southern Blotting
Deleção Cromossômica
Íntrons/genética
Inversão Cromossômica/genética
Mutação/genética
Polimorfismo Genético
Reação em Cadeia da Polimerase/métodos
Limites: Humanos
Masculino
Feminino
Responsável: AR1.1 - Biblioteca Rafael Herrera Vegas


  4 / 24 LILACS  
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Id: lil-508555
Autor: Costa, Hélio de Lima Ferreira Fernandes; Costa, Laura Olinda Bregieiro Fernandes.
Título: Abortamento habitual - II Fatores cromossômicos e anatômicos / Habitual abortion - II Cromossomic and anatomic factors
Fonte: Femina;36(11):713-717, nov. 2008.
Idioma: pt.
Resumo: Embora fatores cromossômicos parentais tenham sido sugeridos como responsáveis por pequena proporção de abortamentos habituais, seu papel como causa das perdas ainda não foi convincentemente comprovado. Há evidências indiretas de que algumas mulheres teriam predisposição à não disjunção cromossômica durante a meiose, que resultaria em trissomias recorrentes nos embriões. As evidências que associam os abortamentos habituais às translocações ou inversões cromossômicas e aos mosaicismos são de baixa qualidade e controversas. Em relação ao distúrbios anatômicos, as abortadoras habituais com história típica de incompetência istmo-cervical, com mioma submucoso, sinéquias intra-uterinas ou septos não têm sido incluídas em ensaios clínicos com grupo-controle sem tratamento. Isso se deve provavelmente a um conceito empírico, fortemente estabelecido entre clínicos e pesquisadores, de que essas doenças são causas de abortamento habitual de tratamento obrigatório. Não há evidências que justifiquem a realização de metroplastias laparotômicas em pacientes com útero didelfo ou bicorno, embora algumas possam se beneficiar da cerclagem uterina

Although parental chromosomal factors have been suggested to play a role in a small proportion of habitual abortion, they have not been convincingly imputed as the cause of miscarriage. There are indirect evidences that some women are prone to chromosomal non-disjunction during meiosis yielding recurrent trisomies in embryos. The evidences associating habitual abortion to chromosomal translocations or inversions and to mosaicism are controversial and bad quality. Concerning anatomical disturbs, habitual aborters with a typical history of cervical incompetence, with submucous myomas, intra-uterine adhesions or septum have not been included in controlled trials with a no-treatment control group. This is probably due to a conception strongly established among clinicians and researchers that these are causes of habitual abortion of mandatory treatment. There is no evidence to justify laparotomic metroplasty in didelphic of bicornuate uterus, although some women could benefit from uterine cerclagem
Descritores: Aborto Habitual/etiologia
Aborto Habitual/genética
Leiomioma
Aderências Teciduais
Incompetência do Colo do Útero
Doenças Uterinas
-Transtornos Cromossômicos
Inversão Cromossômica
Ensaios Clínicos Controlados como Assunto
Estudos Prospectivos
Limites: Feminino
Gravidez
Responsável: BR1365.1 - Biblioteca Biomédica A - CB/A


  5 / 24 LILACS  
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Id: lil-498914
Autor: Sena, D. C. S; Molina, W. F.
Título: Robertsonian rearrangements and pericentric inversions in Scaridae fish (Perciformes)
Fonte: Genet. mol. res. (Online);6(3):575-580, 2007. ilus.
Idioma: en.
Projeto: CAPES; . CNPq.
Resumo: The parrotfishes (family Scaridae) are comprised of the subfamilies Sparisomatinae and Scarinae. They are important agents of marine bioerosion, which rework the substrate with their beaklike jaws. Despite their importance, there are no published cytogenetic data on this group. We made cytogenetic analyses of Sparisoma axillare (Sparisomatinae) and Scarus coelestinus (Scarinae) from the Brazilian coast. Differentiation in the diploid number in S. axillare compared to the basal karyotype of the Perciformes apparently occurred due to a Robertsonian fusion, combined with pericentric inversions. S. coelestinus presented a conserved diploid number, but showed considerable structural karyotypic changes, resulting mainly from pericentric inversions. The Ag-NOR sites were unique and located on the short arm of the 1st subtelocentric pair in both species (possibly homeologous), corresponding to the 11th pair in S. axillare and the 9th pair in S. coelestinus. The constitutive heterochromatin is reduced in these species and is distributed in centromeric and pericentromeric regions in most of the chromosomes. The low fundamental number compared to the Scarus genus suggests a more basal condition for Sparisoma. The chromosome formula in S. coelestinus was more diversified, deriving from large-scale pericentric inversions. Karyotypic evolution patterns observed for these representatives of the Sparisomatinae and Scarinae subfamilies, added to new data from a larger number of species, would allow us to determine if there is a tendency among the Sparisomatinae for centric fusion events.
Descritores: Bandeamento Cromossômico
Inversão Cromossômica
Análise Citogenética
Heterocromatina/química
Perciformes/genética
-Cromossomos
Citogenética/métodos
Diploide
Evolução Molecular
Cariotipagem
Região Organizadora do Nucléolo
Prata/metabolismo
Limites: Animais
Responsável: BR26.1 - Biblioteca Central


  6 / 24 LILACS  
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Texto completo SciELO Brasil
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Id: lil-476149
Autor: Remis, Maria Isabel.
Título: Chromosome polymorphisms in natural populations of the South American grasshopper Sinipta dalmani
Fonte: Genet. mol. biol;31(1):42-48, 2008. ilus, graf, tab.
Idioma: en.
Resumo: Six populations of Sinipta dalmani from the provinces of Buenos Aires and Entre Rios (Argentina) were analyzed. The populations of "El Palmar" National Park (Entre Rios) were polymorphic for pericentric inversions in pairs M4 and M7 and for a centric fusion involving pair M5 and the X chromosome. The M4 inversion remained similar over time and the karyomorphic frequencies did not depart from those expected according to the Hardy-Weinberg equilibrium. The analysis of chiasma frequency and distribution showed clear intra- and interchromosome effects of the different chromosome rearrangements. Both inversions and centric fusions were related with total or partial crossing over restriction in heterozygous condition, leading to a genetic differentiation between rearranged and non-rearranged chromosomes. The chromosome polymorphisms analyzed herein were associated with an increase in the number of terminal chiasmata both in the rearranged chromosomes (heterozygous centric fusion and homozygous M4 inversion) and in the other chromosomes (M4 inversion). Our results showed that the chromosome polymorphisms in S. dalmani may be associated with a significant decrease in genetic recombination, which may explain in part their maintenance in some areas of its geographical distribution.
Descritores: Análise Citogenética
Gafanhotos/genética
-Inversão Cromossômica
Polimorfismo Genético
América do Sul
Limites: Animais
Responsável: BR26.1 - Biblioteca Central


  7 / 24 LILACS  
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Id: lil-452440
Autor: Caamaño Lillo, José Mauricio.
Título: Bases genéticas de la hemofilia A / Genetic basis of haemophilia A
Fonte: Rev. chil. cienc. méd. biol;16(1):20-29, 2006. graf.
Idioma: es.
Resumo: La Hemofilia A es un trastorno heredado de la coagulación sanguínea, que se caracteriza por presentar niveles reducidos de Factor VIII. En pacientes con enfermedad severa, alrededor del 50 por ciento presenta la inversión del intron 22 del gen del FVIII, y en el 5 por ciento ocurre la inversión del intron 1. Además, es posible encontrar otro tipo de mutaciones, tales como, inserciones, deleciones y mutaciones missense y nonsense. Las mutaciones en el gen del FVIII se asocian a riesgo de desarrollar inhibidores del FVIII, los que provocan refractariedad a la infusión de concentrados de factor. Gracias al conocimiento genético de la hemofilia A, se ha mejorado el diagnóstico tanto de pacientes como de portadoras, así como también la producción de concentrados de factor empleados en el tratamiento.
Descritores: Fator VIII/genética
Hemofilia A/genética
-Deleção Cromossômica
Inversão Cromossômica
Fator VIII/antagonistas & inibidores
Duplicação Gênica
Mutação
Polimorfismo Genético
Limites: Humanos
Responsável: CL1.1 - Biblioteca Central


  8 / 24 LILACS  
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Texto completo SciELO Brasil
Texto completo
Id: lil-391230
Autor: Diniz, Nilda Maria; Sene, Fabio Melo.
Título: Chromosomal phylogeny of the Drosophila fasciola species subgroup revisited (Diptera, Drosophilidae)
Fonte: Genet. mol. biol;27(4):561-566, Dec. 2004. ilus, tab.
Idioma: en.
Resumo: The analysis of polytene chromosomes in 26 strains of seven species in the Drosophila fasciola subgroup, from several locations in Brazil, in addition to strains of two species belonging to the Drosophila mulleri subgroup (D. aldrichi and D. mulleri), enabled us to determine that the 3c inversion found in the latter species differ in one of its break points from that present in the species of the fasciola subgroup. Therefore, a change in the mulleri complex denomination from inversion 3c to inversion 3u is proposed. Accordingly, the fasciola subgroup is no longer a lesser phylogenetic part within the mulleri subgroup. Rather, it is directly related to the likely ancestor of the repleta group, called Primitive I. This information removes the main obstacle to considering the Drosophila fasciola subgroup as an ancestral group within the Drosophila repleta species group, according to the hypothesis of Throckmorton. Our data also support the conclusion that D. onca and D. carolinae are closely related species based on one new inversion in chromosome 4 (4f²), in both species. D. fascioloides and D. ellisoni also form a pair of sister species based on the presence of fusions of chromosomes 2-4 and 3-5. D. rosinae is related only to the likely ancestor of the fasciola subgroup, where the 3c inversion was fixed.
Descritores: Inversão Cromossômica
Drosophila
Filogenia
Limites: Animais
Tipo de Publ: Estudo Comparativo
Responsável: BR26.1 - Biblioteca Central


  9 / 24 LILACS  
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Texto completo SciELO Brasil
Texto completo
Id: lil-391227
Autor: Molina, Wagner Franco; Galetti Júnior, Pedro Manoel.
Título: Multiple pericentric inversions and chromosomal divergence in the reef fishes Stegastes (Perciformes, Pomacentridae)
Fonte: Genet. mol. biol;27(4):543-548, Dec. 2004. ilus, tab.
Idioma: en.
Resumo: Damselfishes (Pomacentridae, Perciformes) occur in all major oceans of the world and, with approximately 320 species, represent one of the most diverse families of marine Teleostei. The taxonomy of these reef fishes is problematic because of the large number of complex species and the range of color patterns they display, which vary among individuals and populations of the same species. In this study, we examined the cytogenetic composition of four species of Stegastes (S. pictus, S. fuscus, S. variabilis and S. leucostictus) found along the coast of Brazil. Stegastes pictus had a chromosomal number of 2n = 48 (14m+28sm+2st+4a, fundamental number (FN) = 92), S. fuscus had 2n = 48 (20m+22sm+6a, FN = 90), S. variabilis had 2n = 48 (18m+22sm+8a, FN = 88), and S. leucostictus had 2n = 48, (18m+22sm+8a, FN = 88). The nucleolar organizing regions were single and homologous in all of the species, and were located in the interstitial region on the short arm of the first submetacentric pair. The heterochromatin segments were reduced in size and were distributed conservatively over the centromeric and pericentromeric regions of most of the chromosomes. The marked divergence in the number of chromosomal arms, compared to other perciformes (2n = 48, FN = 48), indicated that varying degrees of multiple pericentric inversions had occurred during the karyotypic evolution of the Pomacentridae. Subtle karyotypic differences between S. variabilis and S. leucostictus suggested a recent divergence or that their karyotypes were less susceptible to changes. These results indicate that cytogenetic analyses could provide important complementary data for the characterization of populations and species of Stegastes and damselfishes in general.
Descritores: Cromossomos
Peixes
RNA RIBOSSOMICO ABDOMENS
-Inversão Cromossômica
Análise Citogenética
Hibridização in Situ Fluorescente
Cariotipagem
Limites: Animais
Responsável: BR26.1 - Biblioteca Central


  10 / 24 LILACS  
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Ananina, Galina
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Id: lil-357876
Autor: Ananina, Galina; Peixoto, Alexandre A; Bitner-Mathé, Blanche C; Souza, Wilma N; Silva, Luciano Basso da; Valente, Vera L. S; Klaczko, Louis B.
Título: Chromosomal inversion polymorphism in Drosophila mediopunctata: seasonal, altitudinal, and latitudinal variation
Fonte: Genet. mol. biol;27(1):61-69, 2004. ilus, tab, graf.
Idioma: en.
Resumo: The most polymorphic chromosome for inversions in Drosophila mediopunctata is the chromosome II, where 17 inversions have been found, eight of which occurring in the distal region and nine in the proximal region. We present an analysis of the chromosome II inversion polymorphism with respect to seasonal, altitudinal and latitudinal variation. In D. mediopunctata from the Parque Nacional do Itatiaia (southeastern Brazil), the frequencies of three of the distal inversions (namely DA, DS, and DP) vary seasonally. These inversions also show altitudinal clines in their frequencies. This microgeographic pattern was not observed on a macrogeographic scale. D. mediopunctata from Porto Alegre are less polymorphic for inversions than other populations, the most remarkable reduction occurring in the proximal region of chromosome II. There is a considerable difference between D. mediopunctata from Campinas and specimens from Serra do Japi, which are separated by only 50 km. In contrast, D. mediopunctata from Serra do Japi are much more similar to specimens from the Parque Nacional do Itatiaia, which is 200 km far.
Descritores: Inversão Cromossômica
Drosophila
Polimorfismo Genético
-Altitude
Brasil
Latitude Geográfica
Estações do Ano
Limites: Animais
Responsável: BR26.1 - Biblioteca Central



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