This master thesis was performed at the personal genomics company DNA-Guide Europa AB. The goal was to create DNA tests for drug response and to update the already existing DNA test for autosomal ancestry. The DNA tests for drug response: The objective of this part of the master thesis was to create individual DNA test for response to each drug within different groups of medicines. The tests were meant to interest private customers. DNA-Guide uses a microarray technique for the DNA-analysis and this delimited the choice of SNPs. Inserts, deletions, repeats and copies of a whole gene can be difficult to implement on the microarray chip. The SNPs and studies used as a base for the tests had to fulfil several criteria. The studies must be large enough to prove that the association between the genotype and the response to the drug is valid among Europeans, since it’s the clientele of the company. The found association must also be strong enough to be of interest for a DNA test at DNA-Guide. If the SNPs could be implemented on the microarray chip a customer report was created about the possible results. The report had the same structure and design as those for the existing DNA tests at DNA-Guide. The work resulted in DNA tests and reports for medicines within the seven groups of medicines; anticoagulants, medicine against high cholesterol, blood pressure lowering medicine, asthma inhalers, antidepressants, birth-control pills and antiretroviral drugs. The DNA test for autosomal ancestry: The purpose of the update was to enhance to customers understanding of their results and the construction of the test. The update resulted in a description of how the used algorithm processes the results (from the DNA analysis) and a guide to interpret the results of the test. Conclusions: Both the DNA tests for drug response and the updated DNA test for autosomal ancestry can add value for the customers at DNA-Guide. The DNA tests for drug response can offer an explanation to why a medicine does not have an effect or reveal if the customer has higher risk of adverse effects. Even though recommendations for dosage or treatment could not be provided in almost all of the created DNA tests, being aware of the higher risk can be the first step to avoid adverse effects. The update of the DNA test report for autosomal ancestry resulted in a better description of the algorithm and limitations of the test, which can enhance the customers’ understanding of their results.

Made available in DSpace on 2016-12-08T16:59:51Z (GMT). No. of bitstreams: 1 giovana.pdf: 1647049 bytes, checksum: 4a8c0ab9bd4d1545e13b651af271b303 (MD5) Previous issue date: 2011-04-05 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior / This study examines the impact of the use of DNA testing by Brazilian courts as proof in a paternity dispute. For this research we used the lawsuits of paternity in the period 1980 to 2008 and are cataloged in the Archives of the Court of Santa Catarina. We will review the production of legislation relating to the sons, throughout the twentieth century and thebeginning of the XXI. From these sources, it was possible to know the reality of legal paternal recognition in Brazil, the possibilities of access and the means of proving paternity. In the cases investigated we found an important watershed for proof of paternity, DNA testing.Since its incorporation by the Brazilian judiciary as a means of proof in a paternity dispute operated a dissection of sexist discourse so far in those actionsand that focus on specific women's behavior in relation to motherhood and sexuality.With DNA testing, paternity can be proven to 100% reliability, dispensing other legal devices used so far. We highlight the increasingly easy access to the examination, the test is cheaper in recent years, and the state has offered free testing for poor people. We identify continuities and ruptures in relation to the recognition of fatherhood from the absolute certainty offered by DNA test, discuss the influence on gender relations and kinship in this new scenario predicated on the discourse of Science, that may be contributing not only to produce certainty, but also raising questions about the paternity / Este trabalho pretende analisar as repercussões da utilização do exame de DNA pelo Poder Judiciário brasileiro como meio de prova nos processos de investigação de paternidade. Para a realização desta análise, utilizamos como fontes os processos de investigação de paternidade instaurados nas Varas de Família de Florianópolis entre os anos de 1980 a 2008 e que estão catalogados no Arquivo do Tribunal de Justiça de Santa Catarina e a produção de legislação brasileira referente à filiação, ao longo do século XX e este início do século XXI. A partir dessas fontes, foi possível conhecer a realidade do reconhecimento paterno no Brasil pela via judicial, as possibilidades de acesso e os meios de comprovação da paternidade. Nos processos investigados detectamos um marco divisor importante para a comprovação da paternidade, ou seja, o exame de DNA. A partir da sua incorporação pelo Poder Judiciário brasileiro como meio de prova nos processos de investigação de paternidade operou-se um esvaziamento dos discursos sexistas até então presentes nessas ações e que incidiam sobre determinado comportamento feminino frente à maternidade e a sexualidade. Com o exame de DNA, a paternidade pode ser comprovada em até 100% de confiabilidade, dispensando outros expedientes jurídicos até então utilizados. Destacamos o acesso cada vez mais facilitado ao exame, visto o barateamento do exame ao longo dos últimosanos, bem como a intervenção do Estado nestas lides, com a gratuidade do exame para pessoas de baixa renda. Identificamos rupturas e permanências em relação ao reconhecimento da paternidade a partir da certeza absoluta oferecida pelo exame de DNA, discutimos a influência nas relações de gênero e parentesco deste novo cenário pautado no discurso da Ciência, que podem estar não somente contribuindo para produzir certezas , mas também suscitando dúvidas em relação à paternidade

Ziel der vorliegenden Arbeit war die Erstellung einer Übersicht über alle monogenen Erbkrankheiten und -Merkmale bei Hunden, deren molekulargenetische Ursachen bisher (Stand: Oktober 2007) identifiziert werden konnten. Ein besonderer Schwerpunkt lag dabei auf der Darstellung der verfügbaren Genotypisierungsmethoden.Im Vergleich zu anderen Spezies herrscht auf dem Gebiet der Genomanalyse bei Hunden eine auffallend hohe Forschungsaktivität. Die erste Kopplungskarte wurde 1997 veröffentlicht und ist seitdem stetig erweitert worden. Seit 2001 steht eine integrierte Kopplungskarte zu Verfügung. Ein weiterer Meilenstein war die erste Assemblierung der Sequenz des gesamten caninen Genoms CanFam1.0 im Juli 2004. Seit Mai 2005 ist eine überarbeitete Version (CanFam2.0, Mai 2005) verfügbar. Das große Interesse an der Spezies Canis familiaris in diesem Zusammenhang ist vor allem durch die besondere Eignung des Hundes als Modelltier für humane Erbkrankheiten und -merkmale begründet. Die relativ starke Inzucht innerhalb von Rassen führt zum Auftreten zahlreicher monogener Erbkrankheiten, die phänotypisch und, wie die Forschungsergebnisse der letzten Jahre zeigen, häufig auch genotypisch homolog zu Erkrankungen des Menschen sind. Die Zahl der beim Hund im Zusammenhang mit Erbkrankheiten oder bestimmten morphologischen Merkmalen identifizierten Genmutationen ist in den letzten Jahren rapide angestiegen.Die Nutzung der ständig wachsenden Menge an Daten, die sich aus der beschriebenen Entwicklung ergeben, ist nicht nur für die humanmedizinische Forschung von Interesse, sondern bietet Hundezüchtern die Möglichkeit, über den Einsatz molekulargenetischer Genotypisierungsmethoden mit einer hohen Effizienz gegen Erbkrankheiten und unerwünschte morphologische Merkmale zu selektieren.Inzwischen konnten 86 pathogene Mutationen in 64 Genen als Ursache für bestimmte canine Erbkrankheiten identifiziert werden. Für 66 Mutationen sind DNA-Tests etabliert worden. Ein weiterer DNA-Test zum Nachweis einer pathogenen Mutation beruht auf der Assoziation eines Haplotyps mit der nachzuweisenden Erkrankung. Außerdem sind neun Polymorphismen in fünf Genen beschrieben worden, die mit bestimmten Farbvarianten des Fells und der Nase assoziiert sind. Für sieben dieser Polymorphismen sind DNA-Tests entwickelt worden. (Stand: Oktober 2007)Trotz zahlreicher Quellen (OMIA, Liste der Universität Bern: Gentests beim Hund , Internetseiten verschiedener Firmen und Einrichtungen, die Gentests anbieten und Patentschriften) sind die wesentlichen Detailinformationen oft erst nach längerem Suchen auffindbar. Die vorliegende Arbeit bietet die Grundlage für die Erstellung eines Handbuches, um Tierärzten und Hundezüchtern den Zugang zu verfügbaren DNA-Tests bei Hunden zu erleichtern.

Unambiguous gender identification (ID) is needed to assess parameters in studies of population dynamics, behavior, and evolutionary biology of Caribbean Flamingo (Phoenicopterus ruber ruber) and other birds. Due to its importance for management and conservation, molecular (DNA-based) avian gender ID assays targeting intron-size differences of the Chromosome Helicase ATPase DNA Binding (CHD) gene of males (CHD-Z) and females (CHD-W) have been developed. Male (ZZ) and female (WZ) genotypes are usually scored as size polymorphisms through agarose or acrylamide gels. For certain species, W-specific restriction sites or multiplex polymerase chain-reaction (PCR) involving CHD-W specific primers are needed. These approaches involve a minimum of three steps following DNA isolation: PCR, gel electrophoresis, and photo-documentation, which limit high throughput scoring and automation potential. In here, a short amplicon (SA) High-resolution Melting Analysis (HRMA) assay for avian gender ID is developed. SA-HRMA of an 81-Base Pair (bp) segment differentiates heteroduplex female (WZ) from homoduplex male (ZZ) genotypes by targeting Single-nucleotide Polymorphisms (SNPs) instead of intron-size differences between CHD-Z and CHD-W genes. To demonstrate the utility of the approach, the gender of Caribbean Flamingo (P. ruber ruber) (17 captive from the Dallas Zoo and 359 wild from Ria Lagartos, Yucatan, Mexico) was determined. The assay was also tested on specimens of Lesser Flamingo (P. minor), Chilean Flamingo (P. chilensis), Saddle-billed Stork (Ephippiorhynchus senegalensis), Scarlet Ibis (Eudocimus ruber), White-bellied Stork (Ciconia abdimii), Roseate Spoonbill (Platalea ajaja), Marabou Stork (Leptoptilos crumeniferus), Greater Roadrunner (Geococcyx californianus), and Attwater's Prairie Chicken (Tympanuchus cupido attwateri). Although the orthologous 81 bp segments of Z and W are highly conserved, sequence alignments with 50 avian species across 15 families revealed mismatches affecting one or more nucleotides within the SA-HRMA forward or reverse primers. Most mismatches were located along the CHD-Z gene that may generate heteroduplex curves and thus gender ID errors. For such cases, taxon and species-specific primer sets were designed. The SA-HRMA gender ID assay can be used in studies of avian ecology and behavior, to assess sex-associated demographics and migratory patterns, and as a proxy to determine the health of the flock and the degree by which conservation and captive breeding programs are functioning.