Made available in DSpace on 2016-04-29T13:32:25Z (GMT). No. of bitstreams: 1 Paulo Fernando Pereira de Souza.pdf: 797399 bytes, checksum: f76dbbc4597362269df8868d377c111c (MD5) Previous issue date: 2009-06-02 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior / This dissertation aimed at understanding the identity of men benefited from social policies destined to the families in situation of social vulnerability. This study, of qualitative base, used the resource of the history of life and focused on subjects benefited from the Programa Ação Família (Family Action Program) of the Municipal City Hall of São Paulo, in the period from 2005 to 2008, and chose to deepen in the history of life of one of the subjects, which presented emblematic possibilities of configurations of masculinity and paternity. Ciampa s (1996) concept of identity and Connel s (1995) concept of masculinities were used as a support for the process of understanding. The contextualization required an explicitation of the data collection process, research concerning paternity, poor/migrant families and social policies directed at the families. Special emphasis was given to the social problem that consists in the absence of men, especially of fathers, in the social accompaniments to the families in situation of vulnerability; an absence which presents itself in spite of the fact that most of the benefited families are composed by men (IBGE/PNAD/2007). The difficulties of men in providing support and the absence of expectations that they may have a positive participation in the family be among the elements that allow them to be little considered by the social policies directed at the families in situation of vulnerability. The analysis of the history of life showed mobility in the way that the subject understands and exercises his masculinity, allowing new configurations of affective relationships and the incorporation of activities previously seen as women s responsibility. It also showed how paternity exerted by a poor father can expand itself and incorporate direct and affectionate care for the sons, as well as the exercise of citizenship / Esta dissertação buscou compreender a identidade de homens atendidos pelas políticas sociais de atenção às famílias em situação de vulnerabilidade social. O estudo, de base qualitativa, utilizou-se do recurso à história de vida e focalizou sujeitos atendidos pelo Programa Ação Família , da Prefeitura Municipal de São Paulo, no período de 2005 a 2008, tendo sido escolhido o aprofundamento na história de vida de um dos sujeitos, que apresentou possibilidades emblemáticas de configurações de masculinidade e de paternidade. Foram utilizados os conceitos de identidade de Ciampa (1996) e de masculinidades de Connel (1995) como suporte para o trabalho de compreensão. A contextualização requereu explicitação do processo de coleta de dados, pesquisa sobre paternidade, sobre famílias pobres/migrantes e sobre políticas sociais dirigidas às famílias. Foi dado especial destaque ao problema social que consiste na ausência dos homens, em especial dos pais, nos acompanhamentos sociais às famílias em situação de vulnerabilidade; ausência que se dá apesar de a maioria das famílias atendidas apresentar homens em sua composição (IBGE/PNAD/2007). As dificuldades dos homens em prover e a ausência de expectativas de que eles tenham participação positiva na família estão entre os elementos que permitem que eles sejam pouco considerados pelas políticas sociais de atenção às famílias em situação de vulnerabilidade. A análise da história de vida mostrou mobilidade na maneira de o sujeito entender e exercitar sua masculinidade, permitindo novas configurações de relações afetivas e a incorporação de atividades anteriormente entendidas como de responsabilidade da mulher. Mostrou, também, como a paternidade exercida por um pai pobre pode expandir-se e incorporar cuidados diretos e afetuosos com os filhos, bem como o exercício de cidadania

Submitted by Filipe dos Santos (fsantos@pucsp.br) on 2016-12-02T12:38:07Z No. of bitstreams: 1 Ana Carla de Paula Januario.pdf: 1406894 bytes, checksum: 2876f8297feae67fc9af757dd7dc509c (MD5) / Made available in DSpace on 2016-12-02T12:38:07Z (GMT). No. of bitstreams: 1 Ana Carla de Paula Januario.pdf: 1406894 bytes, checksum: 2876f8297feae67fc9af757dd7dc509c (MD5) Previous issue date: 2016-09-26 / Paternal identification on a child’s birth certificate is often at the discretion of the parents, as something optional, and not considered as a right of the person as a citizen. However this procedure also involves the co-responsibility of the state. Among other reasons, the preservation or restoration of health may necessitate the finding of an individual with blood and/or genetics compatibility, a process facilitated by paternal identification. In accordance with Article 27 of the Children and Adolescents Statute, “The recognition of parentage status is a personal right, inalienable and indefeasible, and can be exercised against the parents or their heirs, without any restriction, observing the secrecy of justice”. The Supreme Court in Precedent 149 also ensures that paternity investigation is also indefeasible. Other citations would infer that there is infringement of the rights of children and adolescents when paternal identification is deemed optional. It should be noted, however, that the Public Prosecutor has taken some initiatives here. Law 8.560/1992, among others, pointed to the universality of the right to parentage recognition, giving the prosecution authority to propose paternity action in its own name and in the interest of the child in the form of public interest. The Internal Affairs Division of Justice, Department of Education and Registers Association of Natural Persons (Arpen) of São Paulo, with the support of the Infancy and Juvenile Courts have organized joint efforts of paternity recognition through programs and projects, as the Present Father. Changes in legislation and other initiatives are also being effected for the promotion of this right, in addition to enabling these recognitions to occur in civil registries without the need for judicial intervention in most cases. In 2011, when the program Present Parent of the National Justice Internal Affairs, through the National Institute of Studies and Research (Inep), found a population of five million Brazilian children, adolescents, and students without paternity recognition, fourteen thousand of those people spontaneously sought paternity identification. Mobilizations and joint efforts carried out annually since 2014 by the Santo Amaro Regional Forum II also present significant results regarding the regularization of parentage and the documentation of hundreds of children. The furthering of this study continued with research on the subjects’ alleged fathers, conducted on the premises of the Institute the Institute of Social Medicine and Criminology of São Paulo (IMESC), with genetic linkage examination (DNA testing). In addition to exploring the analysis of these actions, this study also aims to reflect on the professional attitudes towards the father figure, which often fails to be mentioned in the interventions, reinforcing the naturalized absence of another parent, besides the mother / A decisão da identificação de paternidade no registro de nascimento de uma criança frequentemente fica a critério dos genitores, como se fosse algo opcional destes e não um direito da pessoa enquanto cidadã. Nesse procedimento, também está inserida a corresponsabilidade do Estado. Além de outros aspectos relevantes, como aqueles relacionados à preservação ou recuperação da saúde, por exemplo; já que, no caso de algumas doenças, o fato de se encontrar, num indivíduo, compatibilidade sanguínea e/ou genética pode salvar uma vida. Conforme o Art. 27 do Estatuto da Criança e do Adolescente (ECA): “O reconhecimento do estado de filiação é direito personalíssimo, indisponível e imprescritível, podendo ser exercitado contra os pais ou seus herdeiros, sem qualquer restrição, observado o segredo de Justiça”. O Supremo Tribunal Federal, na Súmula 149, também assegura que é imprescritível a ação de investigação de paternidade. Outras citações são feitas, ao longo deste texto, que levam a inferir que há a violação no direito de crianças e adolescentes, nesse aspecto. Deve-se, porém, salientar algumas iniciativas, como as promovidas pelo Ministério Público. A Lei 8560/1992, entre outras, aponta para a universalidade do direito de filiação, conferindo ao Ministério Público autoridade para propor ação investigativa de paternidade, em nome próprio e no interesse da criança, sob a forma de interesse público. A Corregedoria-Geral de Justiça; Secretaria da Educação; e Associação dos Registradores de Pessoas Naturais (Arpen), de São Paulo, com o apoio de Varas da Infância e Juventude, têm organizado mutirões de reconhecimento de paternidade, por meio de programas e projetos, como o Pai Presente. Mudanças na legislação e outras já iniciadas também estão sendo efetivadas para a promoção desse direito. Além de possibilitar que esses reconhecimentos ocorram em Cartórios de Registro Civil, sem a necessidade de intervenção judicial, na maioria dos casos. O programa Pai Presente, da Corregedoria Nacional de Justiça, através do Instituto Nacional de Estudos e Pesquisas (Inep), localizou uma população de 5 milhões de crianças e adolescentes brasileiros, estudantes, em 2011, que não tiveram efetivado o reconhecimento de paternidade e promoveu-o, no caso de 14 mil pessoas, de forma espontânea. Mobilizações e mutirões realizados anualmente, desde 2014, pelo Foro Regional II de Santo Amaro, também apresentam resultados significativos associados à cidadania, por meio da regularização da filiação e documentação de centenas de crianças. O aprofundamento do presente estudo se deu com a pesquisa realizada com os sujeitos homens supostos pais, atendidos no Instituto de Medicina Social e de Criminologia de São Paulo (IMESC), que compareceram para realizar exame de vinculação genética (exame de DNA). Além de explorar a análise dessas ações, este estudo também traz uma reflexão sobre a postura profissional relacionada à figura paterna, que muitas vezes deixa de ser mencionada nas intervenções, reforçando a mencionada naturalização da ideia da inexistência de outro responsável, além da genitora

Made available in DSpace on 2016-04-26T20:23:04Z (GMT). No. of bitstreams: 1 Samantha Martins Feuz.pdf: 3303879 bytes, checksum: 039f012d33816947aad409f8dad311a4 (MD5) Previous issue date: 2014-08-27 / In this study we discussed the theme "the right of the child to apply for relativization of res judicata in the paternity investigation actions in the face of the principle of dignity of the human person." The objective of this work was to demonstrate the importance of such theme these days, given the high incidence of actions where a son has his presumed paternity before the father's refusal to submit to DNA testing in paternity investigatory actions. After demonstrating the prejudice that such a decision might lead to in the future, during the development of the work discussed the principle of dignity of the human person, conceptualizing and bringing the relevance that it represents to the legal world and, in particular to the theme. Soon after, take care of res judicata, its concept, anyway, we get to the object of our study, which is, its relativization in paternity investigations where the son is declared as such after the father refuse unfairly to submit to the DNA test. Below, we present proposals of legal solutions so that the children can change those decisions, demonstrating that res judicata should be put into perspective considering the principle of human dignity and the search for the real truth and justice and biological decisions that certainly should be targeted by our lawyers. At the end, we concluded our work pointing our opinion, mostly pointing out that decisions should always be carried out in pursuit of Justice and the dignity of the human person / Abordamos nesse estudo o tema O Direito do filho em requerer a relativização da coisa julgada nas ações de investigação de paternidade em face ao princípio da dignidade da pessoa humana . O objetivo desse trabalho foi demonstrar a importância de tal tema nos dias de hoje, diante da grande incidência de ações onde um filho tem sua paternidade presumida diante da recusa do pai em se submeter ao exame de DNA nas ações investigatórias de paternidade. Após demonstrar-se o prejuízo que tal decisão possa implicar no futuro, durante o desenvolvimento do trabalho abordamos o princípio da dignidade da pessoa humana, conceituando-o e trazendo a relevância que o mesmo representa ao mundo jurídico e, em especial ao tema. Logo a seguir, tratamos da coisa julgada, seu conceito, para enfim, chegarmos ao objeto de nossos estudos, qual seja, sua relativização em investigações de paternidade onde o filho o é declarado como tal após o pai se recusar injustamente a se submeter ao exame de DNA. A seguir, apresentamos propostas de soluções jurídicas para que os filhos possam mudar tais decisões, demonstrando que a coisa julgada deve ser relativizada haja vista o princípio da dignidade da pessoa humana e a busca da verdade real e biológica e a justiça das decisões que certamente devem ser almejadas por nossos juristas. Ao final, concluímos nosso trabalho apontando nossa opinião, principalmente apontando que as decisões proferidas devem sempre ser realizadas em busca da justiça e alcance da dignidade da pessoa humana

Le lion de mer Australien a un cycle de reproduction non-annuel et asynchrone entre les colonies.Contrairement aux autres pinnipèdes, ce système unique offre l’opportunité aux mâles de se reproduiredans plusieurs sites lors d’une saison de reproduction. L’accès des mâles à plusieurs sites dereproduction pourrait contrecarrer le fort degré de structure génétique de population chez les femellesdûe à une fidélité extrême au site de reproduction. J'ai utilisé deux méthodes indépendantes maiscomplémentaires, moléculaire et acoustique, afin d’étudier la structure de la population et le systèmede reproduction. Pour l'analyse moléculaire, j'ai développé une banque de microsatellites spécifiques àl'espèce. Ces marqueurs ont été utilisés pour examiner le flux génétique des mâles dans les différentescolonies de reproduction, le succès reproducteur, et les taux de paternité inter- et intra-colonies. Deplus, j'ai mesuré la variation géographique dans les cris des mâles, ce qui représente une approchealternative pour mesurer les convergences/divergences entre colonies. J'ai montré que si les mâlesprésentent une certaine dispersion entre colonies, elle est limitée à une courte échelle en dépit del’opportunité des mâles de se reproduire dans différents sites. Les analyses acoustiques des cris demâles ont révélé des variations géographiques significatives entre colonies, qui ne reflètent pas lastructure génétique. Les analyses de paternité indiquent un faible taux de polygynie, la majorité desmâles ne produisant qu’un ou deux jeunes par saison. Des stratégies alternatives de reproduction(nomade ou sédentaire) sont présentes dans cette espèce, certains mâles se déplaçant activement entredifférentes colonies proches. Le système de reproduction unique du lion de mer Australien semblefortement influer à la fois les modalités de dispersion, mais aussi la structure de population et lesystème de reproduction. / The Australian sea lion has a non-annual and asynchronous breeding cycle across geographically closecolonies. In contrast to other pinnipeds, this unique reproductive system provides the opportunity formales to breed in different colonies during one breeding cycle. Male mating success across differentcolonies could counteract the high degree of structure driven by extreme site fidelity in females. I usedtwo, independent but complementary methods, molecular and acoustic to investigate their populationstructure and mating system. For molecular analysis I developed a species-specific microsatellitelibrary. These markers were used to examine the extent and rate of male mediated gene-flow acrossbreeding colonies but also to determine the breeding success and paternity both within and acrossspatially close colonies. Also, I investigated the geographical variation in male barking call. Thisrepresents an alternative approach to measure boundaries and relationships between colonies. Malesexhibit dispersal; however, this is limited to remarkably small scale in regards to the high potential fordispersal and opportunity to breed in different colonies. Acoustic analyses of the male barking callsrevealed significant geographical variation across sites; however this observed acoustic variation didnot reflect the genetic structure. Paternity analyses revealed that males display relatively modest ratesof polygyny with the majority of successful males siring only one or two pups per breeding cycle. Thepresence of alternative mating strategies (roaming vs staying) is apparent in this species with somemales actively moving and breeding between close colonies. It appears that the unique breedingbiology of Australian sea lion influences dispersal patterns, population structure and mating system.

Submitted by Cássia Santos (cassia.bcufg@gmail.com) on 2017-01-03T13:41:19Z No. of bitstreams: 2 Tese - Lucileide Vilela Resende - 2013.pdf: 3679172 bytes, checksum: 19c64d2dca0756ea4259ae775b9de738 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) / Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2017-01-04T09:56:41Z (GMT) No. of bitstreams: 2 Tese - Lucileide Vilela Resende - 2013.pdf: 3679172 bytes, checksum: 19c64d2dca0756ea4259ae775b9de738 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) / Made available in DSpace on 2017-01-04T09:56:41Z (GMT). No. of bitstreams: 2 Tese - Lucileide Vilela Resende - 2013.pdf: 3679172 bytes, checksum: 19c64d2dca0756ea4259ae775b9de738 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Previous issue date: 2013-03-15 / Fundação de Amparo à Pesquisa do Estado de Goiás - FAPEG / This study aimed to estimate the genetic diversity and inbreeding, perform genetic relationships analysis, and estimate heritability for morphometric variables in quails using microsatellite markers. We used the following morphometric measurements: weight (PO), length (CO), and width (LO) of eggs, weight (P), body length (CC), length (CB), height (AB), and width (LB) of beak, wing length (CA), tarsus length (CT), and toe length (CD). We verified the genetic association for the morphometric variables in the progenies. Also, we checked whether features P, CC, CB, AB, LB, CA, CT, and CD were related to the amount of offspring (QF) from adults in quail families from a commercial flock. We used seven cages containing six females and two males each, which resulted in a progeny of 672 individuals. The genotypes of the individuals were obtained in an automated DNA sequencer. Genotypes were used for genetic diversity, inbreeding, and genetic link analyzes of two generations, and to perform analyzes of variance components, descriptive statistics, Pearson correlations, heritability, t-test, and Utest of Mann-Whitney. In the parental generation we found high probability of combined paternity exclusion (PE = 0.999956), low probability of combined identity (PI = 1.47 x 10-13), and that null alleles frequency was near zero. The values of expected (He) and observed (Ho) heterozygosity, and polymorphism information content (PIC) were equal to 0.768, 0.766 and 0.734, respectively, indicating a high genetic diversity. When we assessed only the progenies, the genetic diversity was maintained (He = 0.760, Ho = 0.757 and PIC = 0.725). The inbreeding coefficient (f) was low and not significant. The genetic link analysis was efficient to assign paternity and maternity for 97% of the progeny. The weight of the offspring at birth and the variables analyzed in eggs are highly correlated. There is also a significant correlation between most measures analyzed. Estimates of heritability values were considered moderate to high. The average number of offspring was 15.93 per female, and 44.6 for males. Females were, on average, heavier than males. The QF was only correlated with the CC in females. We found significant difference between the weight of heavier males when compared to lighter males, but the comparison between QF and weight category was not significant. These results indicated that the 12 microsatellite markers used in the study were robust for the genetic relationships and genetic variability analysis in this species. We also found that the egg’s variables and progeny’s weight were highly correlated, and heritability estimates ranged from moderate to high in the variables analyzed. Females were heavier than males, QF was correlated only with CC in females, and there was no significant difference between heavier males and lighter males. All these information may be useful in future breeding programs for Coturnix japonica. / O objetivo deste estudo foi utilizar marcadores microssatélites para estimar diversidade genética e endogamia, realizar análises de vínculo genético, estimar a herdabilidade para as variáveis morfométricas: peso (PO), comprimento (CO) e largura do ovo (LO), peso (P), comprimento do corpo (CC), comprimento do bico (CB), altura do bico (AB), largura do bico (LB), comprimento da asa (CA), comprimento do tarso (CT) e comprimento do dedo (CD) e verificar a associação genética para estas variáveis nas progênies e verificar quais características: P, CC, CB, AB, LB, CA, CT e CD estão relacionadas com quantidade de filhos (QF) nos adultos em famílias oriundas de um plantel comercial de codornas. Para o desenvolvimento do trabalho foi instalado um experimento com sete gaiolas contendo seis fêmeas e dois machos, resultando em uma progênie de 672 indivíduos. O genótipo dos indivíduos foi obtido em sequenciador automático de DNA. Os genótipos foram utilizados para realização das análises de diversidade genética, endogamia e vínculo genético nas duas gerações e para realizar análises de componentes de variância, estatísticas descritivas, correlações de Pearson, herdabilidade, teste t e teste U de Mann-Whitney. Considerando a geração parental foi encontrada alta probabilidade de exclusão de paternidade combinada (PE = 0,999956), baixa probabilidade de identidade combinada (PI = 1,47x10-13) e frequência de alelos nulos próximas a zero. Os valores de heterozigosidade esperada (He) e observada (Ho) e conteúdo de informação polimórfica (PIC) foram iguais a 0,768, 0,766 e 0,734 respectivamente, indicando uma elevada diversidade genética. A diversidade genética foi mantida quando se avaliou apenas as progênies (He = 0,760, Ho = 0,757 e PIC = 0,725). O coeficiente de endogamia (f) foi baixo e não significativo. A análise de vínculo genético foi eficiente para atribuir a paternidade e maternidade para 97% das progênies. O peso das progênies ao nascimento e as variáveis analisadas nos ovos estão altamente correlacionadas e também existe correlação significativa entre a maioria das medidas. As estimativas de herdabilidade encontradas são consideradas de moderada a alta. A média de filhotes por fêmea foi 15,93 e de machos 44,6, com fêmeas, em média, mais pesadas que os machos. A QF só foi correlacionada com o CC das fêmeas. Houve diferença significativa entre o peso dos machos mais pesados em relação aos mais leves, mas a comparação da QF por categoria de peso não foi significativa. Esses resultados permitem concluir que este painel de 12 marcadores microssatélites é robusto para a realização de análises de vínculo genético e para estudos de variabilidade genética nesta espécie, com as variáveis analisadas nos ovos e peso das progênies altamente correlacionadas, estimativas de herdabilidades moderadas a altas para as variáveis analisadas. As fêmeas são mais pesadas que os machos, QF só está correlacionada com o CC das fêmeas, não apresentando diferença significativa entre o peso dos machos mais pesados em relação aos mais leves. Essas informações podem ser úteis em futuros programas de melhoramento genético para Coturnix japonica.

Orientador: Maria Amália de Figueiredo Pereira Alvarenga / Resumo: O tema central do presente trabalho tem como escopo abordar as especificidades do Planejamento das Famílias Brasileiras na realidade ora vigente, a partir dos novos conceitos e concepções gerados através da evolução no campo do Direito das Famílias, marcada positivamente pela constitucionalização desta disciplina, que trouxe a superação da hipocrisia, do preconceito e da ideia do homem como centro norteador das famílias. Na área específica do planejamento familiar, o arcabouço legislativo está contido no art. 226, §7° da Carta Magna, que preconiza que o planejamento familiar é livre, baseado nos princípios da dignidade da pessoa humana, reafirmando o art. 1°, III, da Constituição Federal de 1988, e deve ser direcionado pelo princípio da paternidade responsável, bem como pela lei n. 9.263/96, que, em suma, dispõe sobre ações e procedimentos a serem realizados pelo sistema público de saúde, distribuição de métodos contraceptivos, realização de cirurgias de esterilização, e instituindo programas amplos da saúde sexual da população. Esta lei, no entanto, pouco dispôs sobre garantias à população atinentes à concretização de políticas públicas estatais no sentido de trazer informação direcionada ao planejamento familiar. Dessa maneira, a insuficiência de informação direcionada à assistência e educação na seara do planejamento familiar vem acarretando problemas relacionados ao crescimento demográfico e à má-formação psíquica das crianças advindas de uma estrutura familiar por vezes ... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: The central theme of this present work aims to point out the specificities of the brazilian family planning in the reality currently in force, from the new concepts and conceptions generated through evolution in the field of Family Law posively marked by the constitucionalisation of this subject, which has bring the overcoming of hyprocrisy, preconception and the idea of the men as the middle guiding of the families. In the specific area of family planning, backed by the protective housing of brazilian constitucion law, inserted on the art. 226, §7º of the Brazilian Constitution/1988 and should be directed by the responsible paternity principle, such as the law n. 9.263/96, that, briethly says about actions and procedures that has to be taken by the public system of health, distribution of contraceptives methods, performing sterilization surgeries and istituting wide programs of population´s sexual health. This law, althogh, has little arranged about guarantees to the population about concretization of public politics in the sense to bring information to people directed to family planning. The insufficient information directed to assistance and education in the area of family planning has been carrying problems related to demographic growth and to the bad psiquic formation of child coming from a fragile and lacking of information familiar structure. As a solution presented, it is necessary that the State provides public politics and structure of its organs to propitiate the p... (Complete abstract click electronic access below) / Mestre

<p>BACKGROUND: Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by mutations in the gene coding for microsomal triglyceride transfer protein (MTTP).</p><p>AIM: To characterize the genetic basis of ABL in two unrelated patients.</p><p>RESULTS: In the first patient, the substitution c.1911C>T in exon 12 of the <em>MTTP</em> gene, resulting in the protein substitution p.P552L, was discovered using mutation screening. The parents are heterozygous and the proband is a homozygous carrier of this substitution. Using restriction fragment length polymorphism (RFLP), 100 control subjects were analyzed and none carried the substitution indicating that it is a novel <em>MTTP </em>mutation. Sequencing of the other ABL patient showed that the proband carried a homozygous single base insertion, at position  c.2342IVS16+2-3insT, located at the donor splice-site of intron 16 resulting in skipping of exon 16 and truncation of the protein. The proband's mother is heterozygous for the insertion while the father does not carry the insertion. Multiplex ligation-dependent probe amplification (MLPA) did not identify any deletion encompassing exon 16 in the proband, father or mother. Nonpaternity was excluded using polymorphic markers from several chromosomes. Haplotype analysis using markers spanning chromosome 4 revealed  heterodisomy (two homologous chromosomes) of 4p and the distal part of 4q, and isodisomy (duplication of one chromosome) of 4q12-4q26.</p><p>CONCLUSION: These data show that the cause of ABL in one of the patients is a missense mutation, p.P552L, while the cause of ABL in the other patient is due to uniparental disomy, probably resulting from non-disjunstion in meiosis I.</p>

BACKGROUND: Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by mutations in the gene coding for microsomal triglyceride transfer protein (MTTP). AIM: To characterize the genetic basis of ABL in two unrelated patients. RESULTS: In the first patient, the substitution c.1911C&gt;T in exon 12 of the MTTP gene, resulting in the protein substitution p.P552L, was discovered using mutation screening. The parents are heterozygous and the proband is a homozygous carrier of this substitution. Using restriction fragment length polymorphism (RFLP), 100 control subjects were analyzed and none carried the substitution indicating that it is a novel MTTP mutation. Sequencing of the other ABL patient showed that the proband carried a homozygous single base insertion, at position  c.2342IVS16+2-3insT, located at the donor splice-site of intron 16 resulting in skipping of exon 16 and truncation of the protein. The proband's mother is heterozygous for the insertion while the father does not carry the insertion. Multiplex ligation-dependent probe amplification (MLPA) did not identify any deletion encompassing exon 16 in the proband, father or mother. Nonpaternity was excluded using polymorphic markers from several chromosomes. Haplotype analysis using markers spanning chromosome 4 revealed  heterodisomy (two homologous chromosomes) of 4p and the distal part of 4q, and isodisomy (duplication of one chromosome) of 4q12-4q26. CONCLUSION: These data show that the cause of ABL in one of the patients is a missense mutation, p.P552L, while the cause of ABL in the other patient is due to uniparental disomy, probably resulting from non-disjunstion in meiosis I.

In nature, environments are often variable and heterogeneous influencing ecological and evolutionary processes. This thesis focus on how animals interact with their environment and how that affects the reproductive decisions they make. Using empirical data collected from wild collared flycatcher populations, experiments and molecular approaches I try to unveil some of these relationships and the evolutionary, ecological and conservation implications of these findings are discussed. Firstly, collared flycatchers were shown to use breeding densities of their own and other species using similar resources when assessing costs and benefits associated to breeding in specific habitats. However, species will vary in how informative they are, and the worst competitor – with whom you overlap most in resources needs – also provides the best source of information. Collared flycatcher parents will also benefit differentially from investments in sons and daughters due to habitat characteristics and dispersal differences between the sexes. Here, I show that they will produce more of the sex that will give the highest expected fitness return given the environment they are in. These results also provide a reciprocal scenario to Clark's (1978) classical study of sex ratio adjustment in relation to local resource competition (LRC), as more of the natal philopatric sex is produced when LRC is low. Secondly, the effect of elaborated ornaments on paternity in the socially monogamous collared flycatcher was shown to be of more importance in areas where the intensity of intra- and intersexual conflicts are expected to be elevated. Hence, ornamentation by environmental interactions determines paternity, illustrating that sexual selection through extra-pair paternity is context dependent. Finally, even though the collared flycatcher populations that this thesis is based on have been studied on their breeding grounds for more then 25 years, we know little of where they are when they are not breeding. Here, stable isotope signatures in winter-grown feathers suggests that they may spend their winter with their breeding ground neighbours and do so repeatedly over years. Differences between breeding populations at this small scale should have many impactions for evolutionary and ecological processes as it will, for example, determine with whom individuals interact throughout their life.

Sveriges Riksdag beslöt våren 2012 att även ensamstående kvinnor ska få tillgång till assisterad befruktning i Sverige. Hittills, och än så länge, har ensamstående kvinnor rest utomlands för att fertilitetsbehandlas. Syftet med denna studie har varit att undersöka hur solomammor (kvinnor som valt att skaffa barn som ensamstående) resonerat och resonerar kring sitt val, samt hur de ser på faderskapsprocessen och den kommande lagändringen. Deltagare söktes via en förenings Internetsajt, där medlemmarna alla är frivilligt ensamstående mammor. Fem solomammor berättade om sina resonemang i semistrukturerade intervjuer. Sedan kategoriserades, kodades och tematiserades materialet, och analyserades med hjälp av symbolisk interaktionism, värderingsförändringar och samhällsutveckling. Resultaten visar bland annat att respondenterna verkligen tänkt igenom sitt beslut att bilda familj som ensamstående förälder. De ser främst ser lagändringen som symboliskt viktig, då deras familjeform i och med denna erkänns av samhället. Respondenterna tror att donatorbrist och åldersgränser i Sverige kommer att medföra att ensamstående kvinnor även fortsättningsvis reser utomlands för assisterad befruktning. De negativa åsikter som kommit fram rör sjukvårdskontakter i Sverige och hur en del ensamstående mammor blivit bemötta av socialtjänsthandläggare. Faderskapsprocessen skulle kunna bli mer rättssäker om tydliga, nationella regler utfärdades även för faderskapsutredningar som rör donatorbarn. / The Swedish Riksdag decided in the spring of 2012 that single women also should have access to assisted reproduction in Sweden. Up until now, and so far, single women have travelled abroad for fertility treatment. The purpose of this study has been to explore how solo mothers (women who have chosen to obtain children as a single parent) reasoned and reason about this choice, and how they view the paternity process and the upcoming legislative changes. Participants were sought through an Internet site for an association where all members are single mothers by choice. Five solo mothers talked about their reasoning in semi-structured interviews. The material was then categorized, coded and thematized, and analyzed by using symbolic interactionism, changes in values and the development of society. The results show that the respondents really thought through their decision to found a family as a single parent. They see the legislative changes mainly as symbolically important, as their form of the family will be recognized by society. They believe that the lack of donors and the age limitations in Sweden will result in that single women continues to travel abroad for assisted reproduction technology. The negative opinions that have emerged during interviews are related to health care contacts in Sweden and how some single mothers have been treated by social service caseworkers. The paternity process could become more legally secure if clear, national regulations were issued also for the paternity process regarding donor children.