Base de dados : LILACS
Pesquisa : G04.144.220.220.625 [Categoria DeCS]
Referências encontradas : 17 [refinar]
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Id: biblio-1182645
Autor: Perú. Ministerio de Salud. Instituto Materno Perinatal.
Título: Translucencia nucal / nuchal translucency.
Fonte: Lima; Perú. Ministerio de Salud. Instituto Materno Perinatal; 1998. 23 p.
Idioma: es.
Resumo: El presente documento detalla: Presentación, introducción, características fenotípicas de los defectos cromosómicos, cálculo del riesgo para anomalías cromosómicas, translucencia nucal y defectos cromosómicos, técnicas invasivas para diagnóstico de alteraciones cromosómicas, defectos fetales en el ultrasonido entre las semanas 10-14
Descritores: Aberrações Cromossômicas
Bandeamento Cromossômico
Mapeamento Cromossômico
Segregação de Cromossomos
Responsável: PE18.4 - Centro de Documentación
[{"text": "PE18.1", "_a": "MS/IMP 0012"}]


  2 / 17 LILACS  
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Texto completo SciELO Cuba
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Id: biblio-1040488
Autor: de la Torre Santos, María Elena; Herrera Martínez, Manuela.
Título: Mecanismos relacionados con el origen de las aneuploidías humanas en la avanzada edad materna / Mechanisms related to the origin of human aneuploidies in advanced maternal age
Fonte: Medicentro (Villa Clara);22(4):359-363, oct.-dic. 2018. ilus.
Idioma: es.
Descritores: Não Disjunção Genética
Idade Materna
Segregação de Cromossomos/genética
Responsável: CU425.1 - Centro Provincial de Información de Ciencias Médicas de Villa Clara


  3 / 17 LILACS  
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Id: lil-640996
Autor: Fuzinatto, V. A; Pagliarini, M. S; Valle, C. B.
Título: Evaluation of microsporogenesis in an interspecific Brachiaria hybrid (Poaceae) collected in distinct years
Fonte: Genet. mol. res. (Online);7(2):424-432, 2008. tab, ilus.
Idioma: en.
Resumo: Microsporogenesis in an interspecific Brachiaria hybrid, grown in the field under natural environmental conditions in Brazilian savannas, was analyzed in three distinct years of collection. Several types of meiotic abnormalities were recorded during those three years, but varied in type and frequency depending on the year. The average temperature and rainfall 15 days before collection was unusually high in those years. The percentage of abnormal meiocytes recorded was 62% in 2001, 73% in 2004, and 77% in 2005. The abnormalities observed during microsporogenesis compromised pollen viability by generating unbalanced gametes or affecting nucleolus organization. The environmental conditions under which the hybrid was growing could have affected the genetic control of meiosis. More detailed studies, under controlled conditions, are necessary to better understand the effects of environmental factors on Brachiaria microsporogenesis hybrids.
Descritores: Brachiaria/genética
Meiose/genética
-Brachiaria/citologia
Segregação de Cromossomos
Cromossomos de Plantas/genética
Hibridização Genética
Temperatura
Responsável: BR26.1 - Biblioteca Central


  4 / 17 LILACS  
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Id: lil-553182
Autor: Carvalho, Flavia Martinez de.
Título: Mapeamento genético do locus 1q 24.2 – 1q31.3 em famílias segregando periodontite agressiva / Genetic mapping of locus 1q 24.2 – 1q 3.3 in families segregating aggressive periodontitis.
Fonte: Rio de Janeiro; s.n; 2009. 105 p. ilus, tab.
Idioma: pt.
Tese: Apresentada a Universidade do Estado do Rio de Janeiro. Faculdade de Odontologia para obtenção do grau de Doutor.
Resumo: Um estudo sugere que o fenótipo da periodontite agressiva localizada está ligado a região 1q25. O objetivo do presente estudo foi aperfeiçoar o mapeamento genético da periodontite agressiva na região cromossômica supracitada em famílias clinicamente bem caracterizadas segregando a doença. A hipótese deste estudo é que variações genéticas localizadas no cromossomo 1 entre as regiões 1q 24.2 e 1q 31.3 contribuem para o fenótipo da periodontite agressiva. Como objetivos específicos, determinamos o modo de herança da periodontite agressiva através de análise de segregação, e verificamos a existência de ligação e/ou associação entre a região 1q 24.2-1q 31.3 e a periodontite agressiva. A análise de segregação foi executada no programa SEGREG do pacote SAGE versão 5.4.2 com base nos dados dos pedigrees das primeiras 74 famílias recrutadas neste estudo, totalizando 475 indivíduos (média de 6.4 indivíduos por família) de origem geográfica similar. Assumiu-se a herança Mendeliana como um locus autossômico com 2 alelos A e B, onde o alelo A estava associado ao fenótipo relevante. Cinco modos de transmissão (não homogêneo, Mendeliano homogêneo, homogêneo geral, semigeral, heterogêneo geral) foram testados assumindo que a prevalência da periodontite agressiva é de 1% sob o Equilíbrio de Hardy-Weinberg. Foram coletadas amostras de saliva de 54 das 74 famílias recrutadas, totalizando 371 amostras de saliva para a extração do DNA genômico. 21 polimorfismos de um único nucleotídeo (SNPs) foram selecionados dentro da região proposta e analisados por reação em cadeia da polimerase (PCR). Os genótipos foram obtidos pelo método TaqMan. A análise não paramétrica de ligação familial foi executada com o Programa Merlin. As detecções de transmissão (associação) foram executadas com os programas FBAT e PLINK. O modo de herança mais adequado para cada teste de susceptibilidade dos alelos executado foi o modelo semigeral (p=0,31)...

It has been suggested that the localized aggressive periodontitis phenotype is linked to the region 1q25. The aim of this study was to fine map the chromosome interval suggested as containing a localized aggressive periodontitis locus in clinically well characterized group of families segregating aggressive periodontitis. The hypothesis of this study is that genetic variation located between 1q24.2 to 1q31.3 contributes to the phenotype of aggressive periodontitis. As specific aims, we evaluated the inheritance mode of aggressive periodontitis performing segregation analysis and, we tested the presence of linkage and or association between the target region of chromosome 1 and aggressive periodontitis. Segregation analysis was performed in pedigree data from the first 74 families, comprised of 475 individuals (average of 6.4 individuals per family) with similar geographic origin by the use of the SEGREG program of SAGE v.5.4.2. Mendelian inheritance was assumed to be through an autosomal locus with two alleles A and B, where the A allele was associated with the relevant phenotype. Five inheritance modes (homogeneous no transmission, homogeneous Mendelian transmission, homogeneous general transmission, semi-general transmission, heterogeneous general transmission) were tested assuming the prevalence of aggressive periodontitis as 1% and no deviations from Hardy-Weinberg equilibrium. Saliva samples were collected from 54 families, 371 individuals and DNA was extracted from this biological material. Twenty-one single nucleotide polymorphisms (SNPs) were selected and analyzed by standard polymerase chain reaction. The genotypes were obtained by the TaqMan method. The non-parametric analysis of familial linkage was performed with Merlin software. Analyses of transmission detection (association) were performed by FBAT and PLINK programs. The most parsimonious mode of inheritance in each susceptibility type tested was the semi-general transmission mode (p=0,31)...
Descritores: Segregação de Cromossomos
Periodontite Agressiva/genética
Polimorfismo Genético/genética
-Mapeamento Cromossômico
Desequilíbrio de Ligação/genética
Estudos de Associação Genética/métodos
Herança Multifatorial/genética
Limites: Humanos
Responsável: BR1366.1 - Biblioteca Biomédica B - CB/B (Odontologia e Enfermagem)
BR1366.1; TO595


  5 / 17 LILACS  
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Id: lil-531046
Autor: Alvarez, Juan Pablo; Contreras, Gustavo; Santana, David A; Santana, Oscar.
Título: Síndrome de Edwards: presentación de un caso clínico / Syndrome of Edwards: presentation of a case clinical
Fonte: Col. med. estado Táchira;14(3):48-51, jul.-sept. 2005. ilus.
Idioma: es.
Resumo: Síndrome de Edwards una patología polimalformativa, ocasionada por trisonomía 18; frecuencia 1/8.000 RN. 95 por ciento de los fetos son abortados espontaneamente. La supervivencia postnatal es desde pocos días hasta algunos meses. 95 por ciento de casos son trisomía completa (no-disyunción). Lactante de 8 meses, embarazo complicado con retardo de crecimiento intrauterino, polihidramnios. Al nacer se observó occipucio prominente, micrognatia, paladar ojival, mano trió¢mica, talón en martillo, hipertricosis, soplo sistólico, hiporreflexia e hipotonía. Los primeros 20 días el diagnóstico es cierto. Cariotipo al quinto mes: femenino anormal 47 XX+18. A pesar de ser la segunda trisomía en frecuencia sospechable en etapa prenatal o neonatal y definitivamente por cariotipo, se dificulta su diagnostico debido al acceso limitado a dichos estudios en nuestra localidad. En este sentido, consideramos necesario conocer su presentación, para ofrecer orientación adecuada y asesoramiento genético oportuno.
Descritores: Aberrações Cromossômicas
/genética
CROMOSOMAS HUMANOS PAR 1ABDOMINAL NEOPLASMS/genética
Osso e Ossos
Poli-Hidrâmnios
Retardo do Crescimento Fetal/patologia
Trissomia/diagnóstico
Trissomia/fisiopatologia
-Modalidades de Fisioterapia
Não Disjunção Genética
Polimorfismo Genético
Segregação de Cromossomos/genética
Limites: Humanos
Masculino
Lactente
Tipo de Publ: Relatos de Casos
Responsável: VE1.1 - Biblioteca Humberto Garcia Arocha


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Id: lil-520038
Autor: Fuzinatto, V. A; Pagliarini, M. S; Valle, C. B.
Título: Microsporogenesis in sexual Brachiaria hybrids (Poaceae)
Fonte: Genet. mol. res. (Online);6(4):1107-1117, 2007. ilus, tab.
Idioma: en.
Resumo: Three sexual interspecific hybrids of Brachiaria (HBGC076, HBGC009, and HBGC014) resulting from crosses between B. ruziziensis (female genitor) and B. decumbens and B. brizantha (male genitors) produced by Embrapa Beef Cattle in the 1980s were cytologically analyzed by conventional methods for meiotic studies. The cytogenetic analysis showed the occurrence of common meiotic abnormalities among them. The most frequent abnormalities were those related to irregular chromosome segregation due to polyploidy. Other abnormalities, such as chromosome stickiness, absence of cytokinesis, irregular cytokinesis, abnormal spindle orientation, and abnormal nucleolus disintegration, were found in the three hybrids, while, chromosome disintegration was detected only in HBGC014. All the abnormalities, except for abnormal nucleolus disintegration, can cause unbalanced gamete formation, leading to pollen sterility. Multivalent chromosome association at diakinesis revealed genome affinity between the two parental species in the hybrids, suggesting some possibility for gene introgression. Presently, the Brachiaria breeding program has the objective of releasing, primarily, apomictic hybrids as new cultivars since they do not segregate but preserve the genetic makeup indefinitely. Besides, they result in homogeneous pastures which are easier to manage. The sexual hybrids, however, are paramount in the breeding program: they work as 'bridges' to introgress traits of interest into the apomictic genotypes. The cytogenetic analyses of these three hybrids substantiate their maintenance in the breeding program due to low frequency of meiotic abnormalities, complemented by interesting agronomic traits. They may be used in crosses to generate new cultivars in the future.
Descritores: Brachiaria/genética
Hibridização Genética
Cruzamento
-Brachiaria/citologia
Segregação de Cromossomos
Cromossomos de Plantas
Citocinese
Gametogênese
Micronúcleos com Defeito Cromossômico
Meiose/genética
Poliploidia
Responsável: BR26.1 - Biblioteca Central


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Id: lil-498911
Autor: Camargo Junior, O. A; Souza, E. A; Mendes-Costa, M. C; Santos, J. B; Soares, M. A.
Título: Identification of Glomerella cingulata f. sp phaseoli recombinants by RAPD markers
Fonte: Genet. mol. res. (Online);6(3):607-615, 2007. ilus, tab, graf.
Idioma: en.
Resumo: We examined the capacity of strains of Glomerella cin-gulata f. sp phaseoli fungus (Colletotrichum lindemuthianum sexual stage) to form recombinants, using random amplified polymorphic DNA (RAPD). Crosses of all possible combinations between strains 40, 42, 20, 21, 22, 23, 24, 25, and 26 were made on Petri dishes using M3 culture medium. The 42 x 21 cross produced the largest number of perithecia and five asci; the respective ascospores were isolated. RAPD analysis was performed on the parents and descendants. The 62 polymorphic RAPD bands obtained were used to assess the genetic similarity using the method of Sorence and Dice and clustering analysis in the form of a dendrogram by the UPGMA method. The RAPD markers allowed identification of recombinants from the cross between strains 42 and 21 of G. cingulata f. sp phaseoli and 40 ascospores presented 63 and 49% genetic similarity with parents 2 (strain 42) and 1 (strain 21), respectively.
Descritores: Cruzamentos Genéticos
Phyllachorales/fisiologia
Técnica de Amplificação ao Acaso de DNA Polimórfico/métodos
-Segregação de Cromossomos
Intervalos de Confiança
Clusterina/análise
Marcadores Genéticos
Filogenia
Responsável: BR26.1 - Biblioteca Central


  8 / 17 LILACS  
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Id: lil-498907
Autor: Castro-Prado, M. A. A; Querol, C. B; Sant'Anna, J. R; Miyamoto, C. T; Franco, C. C. S; Mangolin, C. A; Machado, M. F. P. S.
Título: Vegetative compatibility and parasexual segregation in Colletotrichum lindemuthianum, a fungal pathogen of the common bean
Fonte: Genet. mol. res. (Online);6(3):634-642, 2007. ilus, tab.
Idioma: en.
Resumo: The heterokaryotic and vegetative diploid phases of Colletotrichum lindemuthianum are described using nutritional and biochemical markers. Nitrate non-utilizing mutants (nit), derived from R2047, R89, R73, R65, and R23 isolates, were paired in all possible combinations to obtain heterokaryons. Although pairings R2047/R89, R2047/R73, R65/R73, and R73/R23 showed complete vegetative incompatibility, prototrophic heterokaryons were obtained from pairings R2047/R65, R2047/R23, R65/R89, R65/R23, R73/R89, R89/R23, R2047/R2047, R65/R65, R89/R89, R73/R73, and R23/R23. Heterokaryons gave rise to spontaneous mitotic segregants which carried markers corresponding to one or the other of the parental strains. Heterokaryons spontaneously produced prototrophic fast-growing sectors too, characterized as diploid segregants. Diploids would be expected to yield auxotrophic segregants following haploidization in basal medium or in the presence of benomyl. Parental haploid segregants were in fact recovered from diploid colonies growing in basal medium and basal medium containing the haploidizing agent. Although barriers to the formation of heterokaryons in some crosses were detected, the results demonstrate the occurrence of parasexuality among vegetative compatible mutants of C. lindemuthianum.
Descritores: Segregação de Cromossomos
Colletotrichum/citologia
Diploide
Nitratos/metabolismo
Phaseolus/microbiologia
-Colletotrichum/enzimologia
Esterases/metabolismo
Haploidia
Hifas/citologia
Mutação/genética
Núcleo Celular/metabolismo
Fenótipo
Responsável: BR26.1 - Biblioteca Central


  9 / 17 LILACS  
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Id: lil-498900
Autor: Grisi, M. C. M; Blair, M. W; Gepts, P; Brondani, C; Pereira, P. A. A; Brondani, R. P. V.
Título: Genetic mapping of a new set of microsatellite markers in a reference common bean (Phaseolus vulgaris) population BAT93 x Jalo EEP558
Fonte: Genet. mol. res. (Online);6(3):691-706, 2007. ilus, tab.
Idioma: en.
Resumo: The present study describes a new set of 61 polymorphic microsatellite markers for beans and the construction of a genetic map using the BAT93 x Jalo EEP558 (BJ) population for the purpose of developing a reference linkage map for common bean (Phaseolus vulgaris). The main objectives were to integrate new microsatellites on the existing framework map of the BJ population, and to develop the first linkage map for the BJ population based exclusively on microsatellites. Of the total of 264 microsatellites evaluated for polymorphism, 42.8% showed polymorphism between the genitors. An integrated map was created totaling 199 mapped markers in 13 linkage groups, with an observed length of 1358 cM and a mean distance between markers of 7.23 cM. For the map constructed exclusively with microsatellites, 106 markers were placed in 12 groups with a total length of 606.8 cM and average distance of 6.8 cM. Linkage group designation and marker order for BM microsatellites generally agreed with previous mapping, while the new microsatellites were well distributed across the genome, corroborating the utility of the BJ population for a reference map. The extensive use of the microsatellites and the availability of a reference map can help in the development of other genetic maps for common bean through the transfer of information of marker order and linkage, which will allow comparative analysis and map integration, especially for future quantitative trait loci and association mapping studies.
Descritores: Mapeamento Cromossômico
Hibridização Genética
Phaseolus/genética
Repetições de Microssatélites/genética
-Segregação de Cromossomos
Cromossomos de Plantas/metabolismo
Ligação Genética
Marcadores Genéticos
Repetições Minissatélites
Polimorfismo Genético
Responsável: BR26.1 - Biblioteca Central


  10 / 17 LILACS  
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Texto completo SciELO Brasil
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Id: lil-450494
Autor: Mendes-Bonato, Andréa Beatriz; Risso-Pascotto, Claudicéia; Pagliarini, Maria Suely; Valle, Cacilda Borges do.
Título: Cytogenetic evidence for genome elimination during microsporogenesis in interspecific hybrid between Brachiaria ruziziensis and B. brizantha (Poaceae)
Fonte: Genet. mol. biol;29(4):711-714, 2006. ilus, tab.
Idioma: en.
Resumo: Microsporogenesis was analyzed in an interspecific hybrid between an artificially tetraploidized sexual accession of Brachiaria ruziziensis (R genome) and a natural apomictic tetraploid accession of B. brizantha (B genome). Chromosomes associated predominantly as bivalents. From this phase to the end of meiosis, chromosomes presented irregular segregation and abnormal arrangement in the metaphase plate. During metaphase I, in 27.8 percent of meiocytes, bivalents were distributed in two metaphase plates. In anaphase I, two distinct and typical bipolar spindles were formed. In 29.7 percent of pollen mother cells, one genome did not divide synchronically, with chromosomes lagging behind or not segregating at all. The second division was very irregular, resulting in polyads. Based on previous results from analysis of a triploid hybrid between these species, where the R genome was eliminated by asynchrony during meiosis, it is suggested that the laggard genome in this hybrid also belongs to B. ruziziensis.
Descritores: Brachiaria/genética
Meiose
Poaceae/genética
-Cromossomos de Plantas/genética
Hibridização Genética
Segregação de Cromossomos/genética
Responsável: BR26.1 - Biblioteca Central



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