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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
1

Molecular genetic analysis of human populations in Orkney and the North Atlantic region

Miller, K. W. P. January 1996 (has links)
No description available.
2

Population ecology of bottlenose dolphins (Tursiops truncatus) off the east coast of Scotland

Arso Civil, Mònica January 2015 (has links)
The population of bottlenose dolphins off the east coast of Scotland has been studied since the late 1980s, initially focused on the inner Moray Firth, where a Special Area of Conservation (SAC) was designated under the EU Habitats Directive. The population has since expanded its distributional range and currently ranges from the Moray Firth to the Firth of Forth. The main aims of this thesis were: (1) to estimate population parameters for this population using a 25 year individual recognition dataset, and (2) to increase knowledge of the distribution and abundance of dolphins in areas outside the SAC, especially to investigate areas of high use in St Andrews Bay. Apparent survival rate for adults and sub–adult dolphins was estimated at 0.946 (SE=0.005) accounting for temporary emigration caused by the population's range expansion. Sex-specific survival was estimated for males (0.951, SE=0.013) and females (0.956, SE=0.011) using multistate models to minimize bias caused by individuals of unknown sex. Using a newly developed approach, fecundity rate was estimated at 0.222 (95% CI=0.218-0.253) from an expected mean inter-birth interval of 4.49 yrs (95% CI=3.94-4.93). Total population size was estimated as ~200 individuals, after accounting for temporary emigration and for heterogeneity in capture probabilities. In St Andrews Bay, an area used regularly in summer by approximately half the estimated population, habitat use modelling identified the entrance to the Firth of Tay and waters around Montrose as high use areas for dolphins, whose presence was influenced by tidal current speed and direction. The results suggest that the conservation and management plan for this small and isolated population of bottlenose dolphins should be reviewed to adapt it to current knowledge, especially regarding the uncertainty around the potential impacts of offshore renewable energy developments off the east coast of Scotland.
3

Adjusting the parameter estimation of the parentage analysis software MasterBayes to the presence of siblings : a thesis presented in partial fulfillment of the requirements for the degree of Master of Applied Statistics at Massey University, Albany, New Zealand

Heller, Florian January 2009 (has links)
Parentage analysis is concerned with the estimation of a sample’s pedigree structure, which is often essential knowledge for estimating population parameters of animal species, such as reproductive success. While it is often easy to relate one parent to an offspring simply by observation, the second parent remains frequently unknown. Parentage analysis uses genotypic data to estimate the pedigree, which then allows inferring the desired parameters. There are several software applications available for parentage analysis, one of which is MasterBayes, an extension to the statistical software package R. MasterBayes makes use of behavioural, phenotypic, spatial and genetic data, providing a Bayesian approach to simultaneously estimate pedigree and population parameters of interest, allowing for a range of covariate models. MasterBayes however assumes the sample to be a randomly collected from the population of interest. Often however, collected data will come from nests or otherwise from groups that are likely to contain siblings. If siblings are present, the assumption of a random population sample is not met anymore and as a result, the parameter variance will be underestimated. This thesis presents four methods to adjust MasterBayes’ parameter estimate to the presence of siblings, all of which are based on the pedigree structure, as estimated by MasterBayes. One approach, denoted as DEP, provides a Bayesian estimate, similar to MasterBayes’ approach, but incorporating the presence of siblings. Three further approaches, denoted as W1, W2 and W3, apply importance sampling to re-weight parameter estimates obtained from MasterBayes and DEP. Though fully satisfying adjustment of the estimate’s variance is only achieved at nearly perfect pedigree assignment, the presented methods do improve MasterBayes’ parameter estimation in the presence of siblings considerably, when the pedigree is uncertain. DEP and W3 show to be the most successful adjustment methods, providing comparatively accurate, though yet underestimated variances for small family sizes. W3 is the superior approach when the pedigree is highly uncertain, whereas DEP becomes superior when about half of all parental assignments are correct. Large family sizes introduce to all approaches a tendency to underestimate the parameter variance, the degree of underestimation depending on the certainty of pedigree. Additionally, the importance sampling schemes provide at large uncertainty of pedigree comparatively good estimates of the parameter’s expected values, where the non importance sampling approaches severely fail.
4

Estrutura populacional e estimação de parâmetros genéticos para características associadas ao desempenho reprodutivo em bovinos da raça Caracu / Population structure and genetic parameters estimation for economic importance traits in Caracu cattle

Barrera Carvajal, Alejandro [UNESP] 27 July 2017 (has links)
Submitted by Alejandro Barrera Carvajal null (alejandrobarreracarvajal@gmail.com) on 2017-10-05T04:26:06Z No. of bitstreams: 1 Dissertaçao_Alejandro_Barrera_Carvajal.pdf: 1237994 bytes, checksum: b3cc225c970d5d4a261bca85aee4a212 (MD5) / Approved for entry into archive by Monique Sasaki (sayumi_sasaki@hotmail.com) on 2017-10-09T16:57:38Z (GMT) No. of bitstreams: 1 barreracarvajal_a_me_jabo.pdf: 1237994 bytes, checksum: b3cc225c970d5d4a261bca85aee4a212 (MD5) / Made available in DSpace on 2017-10-09T16:57:38Z (GMT). No. of bitstreams: 1 barreracarvajal_a_me_jabo.pdf: 1237994 bytes, checksum: b3cc225c970d5d4a261bca85aee4a212 (MD5) Previous issue date: 2017-07-27 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) / O conhecimento da estrutura de uma população é importante quando se deseja manter a variabilidade genética em programas de melhoramento genético. As estimativas dos parâmetros genéticos permitem identificar as características de interesse econômico que podem responder a seleção direta ou indireta. Neste trabalho, objetivou-se avaliar a estrutura genética populacional e estimar os parâmetros genéticos para as características peso corporal da fêmea na entrada (PEP) e na saída (PSP) da primeira estação de monta, idade ao primeiro parto (IPP), peso corporal da vaca ao primeiro parto (PPP), peso corporal da vaca ao primeiro desmame (PPD) e perímetro escrotal aos 378 dias (PE378) em bovinos da raça Caracu, para avaliar critérios de seleção e os procedimentos de acasalamento para manter a variabilidade genética da população. A estrutura genética da população foi avaliada pelo tamanho efetivo (Ne), número efetivo de fundadores (fe), número efetivo de ancestrais (fa), intervalos de geração, coeficiente de endogamia (F), coeficiente de parentesco médio (AR) e integridade do pedigree. Os parâmetros genéticos foram estimados pelo método de máxima verossimilhança restrita (REML) por meio de modelo animal multi-característica. Os resultados obtidos para Ne na geração máxima, completa e equivalente, foram 180,90; 57,39; e 92,38, respectivamente. O valor para fe foi de 199 e para fa de 27. O coeficiente de endogamia médio e o parentesco médio foram 2,14% e 5,72%, respectivamente. Na avaliação da integridade do pedigree foram identificados 94,83% das mães e 93,82% dos pais com registros de origem. As estimativas de herdabilidade para as características de peso corporal variaram de 0,37 ± 0,09 (PPP) a 0,46 ± 0,08 (PPD). Para as características reprodutivas, as estimativas de herdabilidade foram 0,31 ± 0,10 para PE378 e 0,10 ± 0,06 para IPP. As correlações genéticas variaram de -0,37 ± 0,30 (PE378 e IPP) a 0,94 ± 0,06 (PSP e PPP). As correlações genéticas entre os pesos corporais medidos durante o primeiro ciclo reprodutivo e IPP indicaram que a seleção visando controlar o peso corporal nesse período não irá afetar a idade ao primeiro parto. A correlação genética favorável obtida entre PE378 e IPP (-0,37±0,30) indicou que a seleção para PE378 nos machos poderá favorecer a redução de idade ao primeiro parto das fêmeas. A partir dos parâmetros populacionais, concluiu-se que a variabilidade genética da população tem sido mantida, assim como os níveis de endogâmia, em decorrência do controle dos acasalamentos no decorrer das gerações. / The knowledge of the structure of the population is important to desired to maintain genetic variability in breeding programs. The genetic parameters estimates allow identifying economic interest traits that can respond to direct or indirect selection. The goal of this study was to evaluate the population genetic structure and to estimate the genetic parameters for the body weight of the cow at the beginning (WBF) and at the end (WEF) of the first breeding season, age at first calving (AFC), body weight of cow at first calving (WFC), body weight of cow at first weaning (WFW) and scrotal circumference measured at 378 days (SC378) in Caracu beef cattle, to assess the selection criteria and to indicate mating procedures to maintain the genetic diversity of the population. The genetic structure of the population was verified of the effective population size (Ne), the effective number of the founders (fe), the effective number of the ancestors (fa), the generational intervals, the inbreeding coefficient (F), the average relatedness (AR) and of the pedigree integrity. The restricted maximum likelihood method (REML) was used to estimate the genetic parameters under multitrait animal model. The maximum, complete and equivalent generation for Ne was 180.90; 57.39 and 92.38, respectively. For the fe were 199 and for fa 27. The average of the inbreeding coefficient and the AR were 2.14% and 5.72%, respectively. The integrity of the pedigree identified was 94.83% of the dam and 93.82% of the sire with known initial records Estimates of heritability for body weight traits ranged from 0.37 ± 0.09 (WFC) to 0.46 ± 0.08 (WFW). For the reproductive traits, the heritability estimates were 0.31 ± 0.10 for SC378 and 0.10 ± 0.06 for AFC. Genetic correlations ranged from -0.37 ± 0.30 (SC378 and AFC) to 0.94 ± 0.06 (WEF and WFC). Genetic correlations between body weights measured during the first reproductive cycle and the AFC indicated that selection to control body weight in this period will not affect age at first calving. The favorable genetic correlation obtained between SC378 and AFC (-0.37 ± 0.30) indicated that selection for SC378 of males may reduce the age at first calving of females. The population parameters showed that the genetic variability of the population has been maintained, as well as the levels of the inbreeding due to the control of mating during the generations.
5

Biologia da Gyalophylax Hellmayri (Reiser, 1905) e Sakesphorus Cristatus (Wied, 1831) em área de caatinga de Pernambuco

VALENÇA, Yuri Marinho 25 September 2012 (has links)
Submitted by Fabio Sobreira Campos da Costa (fabio.sobreira@ufpe.br) on 2016-06-15T14:32:36Z No. of bitstreams: 2 license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) Yuri Dissertação - FINAL(BC)!.pdf: 1147711 bytes, checksum: e5917687135f73da59de59dc191c1f04 (MD5) / Made available in DSpace on 2016-06-15T14:32:36Z (GMT). No. of bitstreams: 2 license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) Yuri Dissertação - FINAL(BC)!.pdf: 1147711 bytes, checksum: e5917687135f73da59de59dc191c1f04 (MD5) Previous issue date: 2012-09-25 / CAPEs / Estudos populacionais em ambientes tropicais são escassos e necessários para compreensão da ecologia desses ecossistemas. A caatinga é um exemplo típico desta necessidade. O presente trabalho visa descrever aspectos da biologia e ecologia de Gyalophylax hellmayri e Sakesphorus cristatus e sendo estas duas espécies endêmicas da caatinga. Foram utilizados os métodos de captura com rede de neblina, e censos por pontos fixo. Quanto à abundância estas podem ser consideradas duas espécies abundantes, pois foi possível estimar o tamanho populacional dessas espécies através do índice pontual de abundância (IPA). Nos quais como F.O. foi visto que S. cristatus como abundante e G. hellmayri uma espécie comum na área estudada. Já no IPA foi registrada ocorrência freqüente para as duas espécies, porém o S. cristatus foi mais ocorrente nas amostras. Através da freqüência de captura foi possível estimar a população no raio das redes de neblina que foi de 14 indivíduos para G. hellmayri e S. cristatus foi de 17 para um raio de 72 metros. E com os padrões de reprodução e com isso averiguar que o período reprodutivo se limita ao período de chuvas da região. Os dados obtidos nos mostram duas populações fixas e abundantes na área de estudo e, que mesmo com o fator clima, não tiveram suas atividades de muda e reprodução de acordo com o relatado para outras espécies em outros biomas. / Population studies in tropical environments are scarce and needed for understanding the ecology of these ecosystems. The savanna is a typical example of this need . This paper aims to describe aspects of the biology and ecology of Gyalophylax hellmayri and Sakesphorus cristatus and being the two endemic species of the caatinga. Methods were used to capture mist net, and census by fixed points. The abundance of these two species can be considered abundant, it was possible to estimate the population size of these species through the Abundance Index (API). Where as F.O. was seen that S. cristatus as abundant and G. hellmayri a common species in the study area. In the IPA was recorded frequent occurrence for both species, but S. cristatus was most observed in the samples. Through the capture frequency was possible to estimate the population within the mist nets that were 14 individuals for G. hellmayri and S. cristatus was 17 to a radius of 72 meters. And with breeding patterns and thus determine the reproductive period is limited to the rainy season in the region. Data obtained show two stationary populations and abundant in the study area , and that even with the climate factor, did not have their molting and reproduction activities in accordance with that reported for other species in other biomes.
6

The Effect of Exploitation on Some Parameters of Coyote Populations

Davison, Robert P. 01 May 1980 (has links)
The study was conducted to examine the effect of exploitation on population parameters of coyotes (Canis latrans). Hypotheses tested were: (1) Substantial levels of exploitation do not change spring and fall coyote densities significantly; (2) Coyote recruitment (reproduction and immigration) rates are unaffected by substantial levels of exploitation; (3) Annual coyote survival rates are not related to intensity of harvest rates; (4) Coyote emigration rates remain unchanged by substantial levels of exploitation. Coyote demographic parameters were measured from 1975 to 1978 for a treatment population subject to substantial exploitation (Curlew Valley, Utah and Idaho), and for an unexploited to lightly exploited control population (Idaho National Engineering Laboratory, INEL). Treatment and control populations were about 100 km apart on environmentally similar areas. Availability and utilization of prey also were similar for the two populations, with the major difference being in the type of lagomorph consumed. Relative spring densities, estimated by scent station indices, increased for both populations over the study period. Relative fall densities in the two areas were estimated by scent station lines, scat indices, and catch-effort indices and increased from 1975 to 1976, but were relatively constant thereafter. Estimates of absolute fall density from isotope labeling of feces also were similar within each area for 1977 and 1978. Neither spring nor fall density estimates were significantly different between areas in any given year or overall. Recruitment rates, as estimated from spring to fall increase in scent station visitation rates generally decreased over the study period, while estimates from age and sex structure of coyotes trapped in the fall increased for both populations over the study period. Estimated recruitment to fall populations (Pf) was consistently greater in Curlew Valley each of the four years, and overall was significantly greater than recruitment at the INEL. Spring to fall change in scent station indices was greater for Curlew Valley for all years except 1975. Annual survival rates were estimated for adults and juveniles marked with transmitters and/or ear tags using methods of statistical inference from band recovery data. Estimated survival rates for adults and juveniles were constant over the study period for each population and did not differ significantly between populations. Estimates of adult and juvenile survival and/or recovery (mortality) rates were significantly different within the Curlew Valley and INEL populations. Estimated hunting mortality rates for adults and juveniles remaining in the treatment population were 56 and 350 percent higher than similar estimates for the control population. Significantly higher in situ juvenile hunting mortality rates were associated with significantly lower nonhunting mortality and emigration rates. Emigration was not only greater from the control population, but it was distributed more evenly over the fall and winter. The following conclusions resulted from the study. Exploitation (kill) rates were substantially higher in the treatment population as expected. Observed differences in fall-winter adult and juvenile in situ kill rates did not produce significant differences in spring or fall densities, or in annual survival rates. Recruitment rates were related directly to hunting mortality rates, while emigration rates were related inversely.
7

Parâmetros populacionais e forenses de polimorfismos indel e detecção alelo-específica / Population and forensic parameters of indel polymorphysms and allelespecific detection

Rodrigues, Maria Luisa de Barros 13 July 2018 (has links)
Polimorfismos do tipo indel são os mais abundantes depois dos SNPs, representando 3,6 milhões das variantes caracterizadas pelo projeto 1000 Genomes. Com uma distribuição que pode ser estimada em mais de um indel a cada 1000 pb, são facilmente encontrados em regiões de interesse. A baixa taxa de mutação e a possibilidade de desenhar primers alelo-específicos são as principais características dos indels que os diferenciam de STRs. O uso de primers aleloespecíficos na detecção e dosagem de misturas de DNA apresenta maior sensibilidade e acurácia que as técnicas usualmente empregadas. Aqui foram descritos, para 10 lócus indel, pares de primers flanqueadores e alelo-específicos para ambos os alelos (inserção e deleção) e foi realizado o estudo populacional em 160 indivíduos. A determinação de fenótipos e avaliação de especificidade dos primers, dos quais 28 foram específicos, foi realizada por PCR convencional seguida de PAGE. As análises populacionais e forenses mostraram que esses lócus apresentam alta variabilidade (heterozigose de 30-50%) e consequentemente, alta informatividade. Os valores de PIC, PE e PD variaram de 0,2763 a 0,3750; 0,1381 a 0,1875 e 0,4978 a 0,6250 respectivamente. Os valores cumulativos de PCE e PCD foram respectivamente 0,8508 e 0,9999. Assim, esse conjunto de indels é indicado para serem testados na detecção e quantificação de misturas de DNA a partir da amplificação alelo-específica. / Indels polymorphisms are the most abundant after SNPs, representing 3.6 million of the variants characterized by the 1000 Genomes project. With a distribution that can be estimated at more than one indel per 1000 bp, they are easily found in regions of interest. The low mutation rate and the possibility of designing allele-specific primers are the main characteristics of the indels that differentiate them from STRs. The use of allele-specific primers in the detection and dosage of DNA mixtures is more sensitive and accurate than regularly employed techniques. Here, for 10 indel loci, pairs of flanking primers and allele-specific primers, for both alleles (insertion and deletion), were described and a population study was performed on 160 individuals. Determining phenotypes and evaluation of primers specificity, of which 28 were specific, was performed by conventional PCR followed by PAGE. In population and forensic analysis, these loci showed high variability (heterozygosis of 30-50%) and consequently high informativeness. The values of PIC, PE and PD ranged from 0.2763 to 0.3750, 0.1381 to 0.1875 and 0.49978 to 0.6250 respectively. Combined values of PCE and PCD were respectively 0.8508 and 0.9999. Thus, this set of indels is indicated to be tested for detection and quantification of DNA mixtures using the allele-specific amplification method.
8

Sobreviv?ncia e tamanho populacional do Ti?-preto Tachyphonus Rufus (aves: thraupidae) em fragmento de restinga no extremo Norte da Mata Atl?ntica

Macario, Phoeve 27 February 2013 (has links)
Made available in DSpace on 2014-12-17T14:33:10Z (GMT). No. of bitstreams: 1 PhoeveM_DISSERT.pdf: 1296465 bytes, checksum: ec2313938bcd5deb6a621d5f0f84edd9 (MD5) Previous issue date: 2013-02-27 / Coordena??o de Aperfei?oamento de Pessoal de N?vel Superior / For a long time, we believed in the pattern that tropical and south hemisphere species have high survival. Nowadays results began to contradict this pattern, indicating the need for further studies. Despite the advanced state of the study of bird population parameters, little is known about their variation throughout the year and the factors affecting them. Reproduction, for example, is one factor that may alter adult survival rates, because during this process the breeding pair allocates resources to maintain itself to maintain offspring, making itself more susceptible to diseases and predation. The aim of this study was to estimate survival and population size of a Central and South America passerine, Tachyphonus rufus (Boddaert, 1783), testing hypotheses about the factors that define these parameters. We performed data collection between Nov/2010 and ago/2012 in 12 ha plot, in a fragment of Atlantic Forest in northeastern Brazil. We used capture-mark-recapture methods to generate estimates using Closed Design Robust model in the program MARK. We generated Multi-state models to test some assumptions inherent to Closed Robust Design. The influence of co-variables (time, rain and reproductive cycle) and the effect of transient individuals were measured. Capture, recapture and apparent survival parameters were defined by reproductive cycle, while temporary dispersal was influence by rain. The estimates showed a higher apparent survival during the non-breeding period (92% ? 1%) than during breeding (40% ? 9%), revealing a cost of reproduction and suggesting a trade-off between surviving and reproducing. The low annual survival observed (34%) did not corroborate the pattern of high rates expected for a tropical bird. The largest population size was estimated to be 56 individuals in Nov/11, explained by high recruitment of juveniles, while the lowest observed in May/12: 10 individuals, probably as a result of massive influx of competitor species. Results from this study add to the growing literature on life history of Neotropical species. We encourage studies like this especially in Brazil, where there are few information, and suggest that covariates related to habitat quality and environmental changes should be tested, so that we can generate increasingly reliable models / Por muito tempo, acreditamos no padr?o de que esp?cies e popula??es de aves provenientes de regi?es tropicais e do hemisf?rio sul apresentavam elevadas taxas de sobreviv?ncia. Atualmente existem resultados que contradizem esse padr?o, indicando a necessidade de mais estudos nessas regi?es. Ainda que um grande progresso tenha acontecido no estudo de par?metros populacionais em aves, pouco se sabe a respeito de suas varia??es ao longo do ano e dos fatores que os afetam. A reprodu??o, por exemplo, ? um fator que pode alterar as taxas de sobreviv?ncia de adultos, uma vez que durante este processo o par reprodutor aloca recursos da pr?pria manuten??o para a manuten??o da prole, tornando-se mais suscept?veis ? preda??o e doen?as. O objetivo deste estudo foi gerar estimativas de sobreviv?ncia e tamanho populacional de Tachyphonus rufus (Boddaert, 1783), um passeriforme restrito a Am?rica Central e do Sul, testando hip?teses acerca dos fatores que influenciam esses par?metros. Realizamos a coleta de dados entre nov/2010 e ago/2012, em um quadrante de 12 ha, num fragmento de Mata Atl?ntica no nordeste do Brasil. Atrav?s do m?todo de captura-marca??o-recaptura elaboramos hist?ricos de captura e geramos estimativas utilizando modelos de Desenho Robusto Fechado com o uso do programa MARK. Por originar modelos menos complexos, utilizamos modelos de Multi-estratos para testar alguns pressupostos inerentes aos modelos de Desenho Robusto. Avaliamos a influ?ncia de co-vari?veis (tempo, chuva e ciclo reprodutivo) e o efeito de indiv?duos transit?rios. As probabilidades de captura e recaptura e a sobreviv?ncia aparente foram definidas pelo ciclo reprodutivo, enquanto a dispers?o tempor?ria pela chuva. As estimativas mostraram uma maior chance de sobreviver durante o per?odo n?o reprodutivo (92% ? 1%) do que durante a reprodu??o (40% ? 9%), revelando um custo reprodutivo e evidenciando um trade-off entre sobreviver e se reproduzir. A baixa sobreviv?ncia anual observada (34%) n?o corrobora o padr?o de altas taxas esperado para os tr?picos. O maior tamanho populacional estimado foi de 56 indiv?duos em nov/11, explicado pelo alto recrutamento de jovens para a popula??o adulta, enquanto em mai/12 observamos o menor: 10 indiv?duos, provavelmente resultante da entrada em massa de esp?cies competidoras. Acreditamos que nossos resultados contribuem para o entendimento da hist?ria de vida de aves de regi?es tropicais, ainda pouco conhecida. Sugerimos que mais trabalhos como este sejam desenvolvidos nos neotr?picos, em especial no Brasil pela escassez de estudos com esse car?ter, e que sejam testadas co-vari?veis relacionados com qualidade do habitat e altera??es ambientais, de forma a podermos gerar modelos cada vez mais confi?veis
9

Descrição de marcadores InDel ligados ao cromossomo X com uso possível de primers internos / Description of X-InDel markers with possible use of internal primers

Alcarás, Igor Caetano Dias 04 December 2018 (has links)
Produzidos pela inserção ou deleção de um ou mais nucleotídeos em um ou ambos os cromossomos homólogos, os marcadores InDel são os polimorfismos mais abundantes depois dos SNPs. Apresentam baixa taxa de mutação quando comparados a outros polimorfismos, ampla distribuição no genoma, simples e rápida genotipagem e frequências alélicas diferentes entre populações distintas. Além disso, uma aplicação relevante dos InDel é a possibilidade de se direcionar a amplificação de sequências alvo específicas, através do desenho de primers que se ligam com regiões de interesse e amplifiquem alelos específicos em um lócus, capacidade esta que melhora a detecção e quantificação do DNA, inclusive do DNA fetal na circulação materna. Apesar de marcadores autossômicos serem os mais utilizados para estudos de mistura em populações, o cromossomo X tem ganhado significativa importância em estudos populacionais e de genética forense, graças ao seu padrão especial de transmissão, a uma deriva genética menor e à sua menor taxa de recombinação. Dessa forma, marcadores genéticos do cromossomo X têm potencial de apresentar parâmetros forenses mais eficientes do que autossômicos em casos de investigação complexa de parentesco, complementar informações fornecidas pelos autossomos e permitir identificar haplótipos com mais facilidade. Neste trabalho, propomos a seleção e descrição formal de um número adequado de lócus do tipo InDel bialélicos ligados ao cromossomo X que possam ser aplicados em estudos de análises populacionais, a fim de complementar os trabalhos de padronização de conjuntos de InDel autossômicos anteriormente desenvolvidos neste laboratório. Foram selecionados sete lócus do cromossomo X que formam dois blocos de haplótipos. Primers flanqueadores e inserção-específicos desenhados para estes lócus tiveram suas condições de PCR convencional padronizadas e foram aplicados na análise fenotípica de uma amostra da população urbana brasileira, composta por 80 trios (Mãe-Filha(o)-Pai), para estimar parâmetros populacionais e de interesse forense. A estimativa das frequências alélicas dos lócus revelou que o alelo inserção é mais frequente para todos os lócus estudados, com exceção do lócus MIDX550. Foram encontrados 60 haplótipos, com o mais frequente correspondendo a 7,5%. Os parâmetros forenses gerados com base nestes lócus estudados mostraram-se eficazes, todos com heterozigose acima de 0,2. Não é possível fornecer afirmações definitivas sobre a paternidade com estes lócus, uma vez que não foi encontrado nenhuma Probabilidade Média de Paternidade W > 99,99%. Entretanto, se combinados com outras informações que aumentem seu poder de discriminação, integrados em painéis e combinados com marcadores autossômicos, os lócus analisados neste trabalho são capazes de fornecer alta informatividade na identificação humana, ancestralidade e quantificação e dosagem de misturas desbalanceadas de DNA. / Originated by the insertion or deletion of one or more nucleotides in one or both homologous chromosomes, InDel markers are the polymorphisms more abundant after SNPs. They have a low mutation rate when compared to other polymorphisms, wide spreading in the genome, simple and rapid genotyping and distinct allelic frequencies between different populations. In addition, a relevant application of the InDel is the possibility to target a specific sequence in PCR, by designing primers that anneal to the regions of interest and amplify specifics alleles in that locus, which improves the DNA detection and quantification in DNA mixtures situations, including fetal DNA in the maternal circulation. Despite being the autosomic markers the most used for DNA mixtures in populations studies, the X chromosome has significant importance in population and forensic genetics studies, thanks to its special transmission pattern, to a lesser genetic drift and to the lower recombination rate. Thus, the genetic markers of the X chromosome have the potential to generate more efficient parameters than the autosomal ones in cases of complex kinship invetigation, adding information in that provided by the autosomes and allow haplotypes with more easily identification. In this work, we propose the selection and formal description of a set of biallelic X-InDel loci that can be applied in population analysis, to complement the standardization work of autosomes InDel sets previously developed in this laboratory. Seven loci of the X chromosome forming two haplotypes blocks were selected. We standardized flanking and insertion-specific primers designed for these loci in conventional PCR conditions. Then, these primers were applied in the phenotypic analysis of a brazilian urban population sample, composed of 80 trios (MotherChild-Father), to estimate the population and forensic interest parameters. The estimation of allele frequencies of loci showed that the insertion allele is more frequent for all the loci studied, with the exception of the MIDX550 locus. Sixty haplotypes were found, most frequently corresponding to 7.5%. The forensic parameters generated for these loci were effective, all with heterozygosis above 0.2. It was not possible to provide statements about paternity with these loci, since no Average Paternity Probability W> 99.99% was found. However, combined with other information that increase its power of discrimination, integrated in panels and combined with the autosomal markers, the analyzed loci in this work are able to provide high informativity for human identification, ancestrality and quantification and dosage of unbalanced DNA mixtures.
10

Características de história de vida de peixes de pequeno porte sob o efeito de diferentes regimes hidrológicos em planície de inundação tropical

Tondato, Karina Keyla January 2013 (has links)
O presente trabalho tem como objetivo avaliar traços de história de vida de peixes de pequeno porte sob o efeito de diferentes regimes de inundação no Pantanal. As amostragens foram realizadas nas regiões Norte (Rio Cuiabá) e Sul do Pantanal (Rio Paraguai), que apresentam regimes hidrológicos diferenciados. Inicialmente, foram obtidos dados de 623 indivíduos da espécie Odontostilbe pequira no Pantanal Sul, para análise de estrutura populacional e traços reprodutivos. Não foi observada variação significativa na distribuição de comprimento entre os sexos. O período reprodutivo foi longo para ambos os sexos (10 meses), com maior intensidade entre os meses de Junho e Julho. Não ocorreu correlação entre o índice gonadossomático (IGS) de ambos os sexos com a temperatura da água e pluviosidade temporalmente. Os machos não apresentaram associação entre o IGS e o nível do rio, mas uma correlação marginalmente significativa foi observada nas fêmeas. Contudo, foi observado o efeito do nível histórico do rio sobre o IGS para ambos os sexos, indicando que o regime de inundação tem influência decisiva na atividade reprodutiva de O. pequira, proporcionando a ocorrência de desovas mesmo que a pluviosidade e temperatura apresentem baixos valores. O. pequira, pode ser caracterizada como uma espécie de “estratégia oportunista”, apresentando longo período reprodutivo, desova parcelada e elevada fecundidade, com atividade reprodutiva fortemente associada com o regime de inundação. Posteriormente, foram utilizados dados de comprimento de 977 indivíduos de O. pequira no Pantanal Sul, para análises adicionais de traços de história de vida entre os sexos. O comprimento assintótico (L∞) estimado para fêmeas foi maior (39,59mm) que para os machos (37,57mm). As fêmeas também apresentaram maior taxa de crescimento (k=0,93 ano-1) e mortalidade natural (Z=1,56 ano-1) em relação aos machos (k=0,82 ano-1; Z= 1,45 ano-1). Através das curvas de crescimento foram registrados 3 coortes completas para as fêmeas, com longevidade estimada em 3,22 anos, e, 4 coortes para os machos, com longevidade de 3,65 anos. O padrão de recrutamento foi longo para ambos os sexos, não sendo observada variação significativa na forma da distribuição do recrutamento entre os sexos. Constatamos correlação entre o recrutamento e o nível do rio para ambos os sexos, com pico de recrutamento em Julho e Junho para fêmeas e machos, respectivamente, corroborando com o período reprodutivo da espécie e com a associação com o regime de inundação no Pantanal Sul. Finalmente, foram obtidos dados de comprimento das espécies Bryconamericus exodon, Hyphessobrycon eques, O. pequira, Moenkhausia dichroura, Hypoptopoma inexpectatum e Eigemnannia trilineata, nas regiões norte e sul do Pantanal, para realizar as comparações intra e interespecífica. As espécies não apresentaram diferença significativa na forma de distribuição de comprimento entre as regiões. O L∞ das espécies apresentou variação intraespecífica entre as regiões, com os maiores valores para as populações da região norte (exceção, E. trilineata). A taxa de crescimento (k) e mortalidade (Z) apresentou variação intraespecífica entre as regiões, com quatro espécies (B. exodon, H. eques, O. pequira e M. dichroura) demonstrando menores k e Z, e maiores L∞ na região Norte, sugerindo que a região norte oferece condições mais favoráveis em relação à região Sul. Não ocorreu variação intraespecífica entre as regiões para o número de coortes e longevidade. O padrão de recrutamento não apresentou variação intraespecífica entre as regiões, apresentando longo período de recrutamento e picos para todas as espécies entre Junho e Agosto. Na região Norte, o padrão de recrutamento de quatro espécies (B. exodon, H. eques, M. dichroura e H. inexpectatum) não apresentou correlação significativa com o nível histórico do rio Cuiabá, entretanto, essas espécies apresentaram covariação negativa, além de duas espécies (O. pequira e E. trilineata) apresentarem correlação negativa significativa, apresentando picos de recrutamento com a diminuição do nível da água. Na região Sul, cinco espécies (B. exodon, H. eques, M. dichroura, H. inexpectatum e O. pequira) estiveram associadas significativamente com o nível histórico do rio Paraguai, com picos de recrutamento em níveis mais elevados de água, indicando que o regime de inundação tem influência decisiva no padrão de recrutamento (exceção, E. trilineata). Enfim, as espécies apresentaram variação intraespecífica na maioria dos traços de história de vida, mas não há ampla variação, inclusive no padrão de recrutamento que não se altera intra e interespecificamente, evidenciando tanto a força da ancestralidade de táxon (filogenia), como das condições ambientais locais regidas pelo regime de inundação, respectivamente. / The present study aimed to evaluate life history traits of small sized fish according to different flooding regimes in the Pantanal. Samplings were performed in Northern (Cuiabá River) and Southern Pantanal (Paraguai River), which present distinct hydrological regimes. First, data of 623 individuals of Odontostilbe pequira in Southern Pantanal were analyzed as for population structure and reproductive traits. No significant variation was found in length distribution between sexes. The reproductive period was long for both sexes (10 months), with higher intensity between June and July. No correlation was detected between the gonadosomatic index (GSI) of both sexes with water temperature and rainfall over time. Males presented no association between GSI and river water level, but a marginally significant correlation was observed for females. However, it was verified the effect of the historical river level on the GSI for both sexes, indicating that the flooding regime has a decisive influence on the reproductive activity of O. pequira, by promoting spawning even if rainfall and temperature present low values. O. pequira can be characterized as an opportunistic species, presenting a long reproductive period, multiple spawning and high fecundity with reproductive activity strongly associated with the flooding regime. Afterwards, length data from 977 individuals of O. pequira in Southern Pantanal were used for additional analysis on life history traits between the sexes. The asymptotic length (L∞) estimated for females was higher (39.59mm) than for males (37.57mm). Females also presented higher growth rate (k=0.93 year-1) and natural mortality (Z=1.56 year-1) than males (k=0.82 year-1; Z= 1.45 year-1). By means of growth curves, 3 cohorts were recorded for females, with longevity estimated at 3.22 years, and 4 cohorts for males, with longevity of 3.65 years. The recruitment pattern was long for both sexes, without significant variation in recruitment distribution between the sexes. There was a correlation between recruitment and river water level for both sexes, with a recruitment peak in July and June for females and males, respectively, corroborating with the reproductive period of the species and with the association with the flooding regime in Southern Pantanal. At last, length data of Bryconamericus exodon, Hyphessobrycon eques, O. pequira, Moenkhausia dichroura, Hypoptopoma inexpectatum and Eigemnannia trilineata, in Northern and Southern Pantanal, were used for intra- and interspecific comparisons. Species have not presented significant difference in length distribution between regions. The L∞ of species exhibited an intraspecific variation between the regions, with higher values of the populations from the Northern Pantanal (except for E. trilineata). The growth (k) and mortality (Z) rates presented intraspecific variation between the regions, with four species (B. exodon, H. eques, O. pequira and M. dichroura) revealing lower values of k and Z, and higher L∞ values in Northern Pantanal, suggesting that this region provides more favorable conditions than the Southern region. There were no intraspecific variations between the regions for the number of cohorts and longevity. The recruitment pattern also had no intraspecific variation between the regions, presenting a long recruitment period and greater peak for all species between June and August. On the Northern region, the recruitment pattern of four species (B. exodon, H. eques, M. dichroura and H. inexpectatum) showed no significant correlation with historical level of the Cuiabá River, but these species presented a negative covariation; besides that, two species (O. pequira and E. trilineata) presented a significant negative correlation, with recruitment peaks with decreasing water level. In the Southern Pantanal, five species (B. exodon, H. eques, M. dichroura, H. inexpectatum and O. pequira) have been significantly associated with the historical level of the Cuiabá River, with recruitment peaks at higher water levels, pointing out that the flooding regime has a key influence on the recruitment pattern (except for E. trilineata). Finally, species presented intraspecific variations in most of life history traits, but there is no wide variation, including in the recruitment pattern that does not change intra- and interspecies, evidencing both the control of the taxa ancestry (phylogeny) and of local environmental conditions ruled by the flooding regime, respectively.

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