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Thesis (M.S.)--Michigan State University. School of Criminal Justice, 2006 / Title from PDF t.p. (viewed on Nov. 20, 2008) Includes bibliographical references (p. 112-116). Also issued in print.

Thesis (doctoral)--Universität Regensburg, 2009. / Includes bibliographical references.

Thesis (MDip (Medical Technology))--Cape Technikon, 1993 / The use of genetic marker testing to resolve cases of disputed paternity, is well established. The number and range of systems used depends on the expertise of the laboratory, and for this reason various laboratories offer different systems. Standard testing includes tests in the following genetic marker systems: human leukocyte antigen (tissue) typing; red cell blood groups; and red cell enzyme and serum protein testing. The Provincial Laboratory for Tissue Immunology currently offers a range of 16 genetic marker systems capable of excluding >99% of falsely accused men. Following the discovery DNA polymorphisms, particularly VNTR DNA polymorphisms, and the commercial availability of VNTR DNA probes, PLTI decided to offer this service to our clients. This study was the initial phase in the establishment of a VNTR DNA typing laboratory and covered the determination of inter-and intra-gel accuracy and precision, selection of restriction enzyme/probe combination, and evaluation and comparison of the results of 100 disputed paternity cases tested using both standard and VNTR DNA typing. Of the 100 cases tested, in 33 cases, the putative father was excluded using standard testing. These exclusions were confirmed using VNTR DNA typing, and, furthermore, an additional two exclusions of paternity were shown using only VNTR DNA typing. In another two cases of disputed paternity, the exclusions obtained using standard tests required further confirmation. VNTR DNA typing convincingly excluded both falsely accused putative fathers. The VNTR DNA typing laboratory now functions as an integral part of the disputed paternity service. Due to the cost and time involved in VNTR DNA typing it is reserved at this stage for: those cases which require further confirmation of the results of standard testing; when the probability of paternity is low (<99.7%); or when a specific request is made.

The pathetic cry 'Who is my father?' has been asked time and again the world over. Discovery of paternity, linked as it is with the processes - legal and scientific - of establishing the alleged father's relationship on a balance of probabilities is a very real problem in the field of family law in South Africa. Blood tests have proved to be one aid in its solution. However, the application of such tests carry with them their own specific difficulties, most notable from the point of view of the lawyer is the extent of the authority of the court to order such tests, the interpretation of the test results and the role and emphasis that should be given to the results of the blood tests in the final determination of each case. Lawyers have to be wary and avoid falling into the trap of the layman who has the distinct tendency to accept unquestionably anything backed by scientific authority. / Thesis (LL.M.)-University of Durban-Westville, Durban, 1994.

Orientador: Heloisa Andre Pontes / Tese (doutorado) - Universidade Estadual de Campinas, Instituto de Filosofia e Ciências Humanas / Made available in DSpace on 2018-08-20T02:55:51Z (GMT). No. of bitstreams: 1 Finamori_Sabrina_D.pdf: 2705106 bytes, checksum: 6f7646a2465cf91ce20eae2a6af0e655 (MD5) Previous issue date: 2012 / Resumo: Esta tese analisa a partir das narrativas de vida de filhos que buscam contemporaneamente pelo reconhecimento legal do pai biológico, como os sentidos da paternidade são constituídos, significados ou ressignificados nessas experiências particulares, questionando ao mesmo tempo como paternidade, filiação e conjugalidade se constituem mutuamente como categorias e práticas sociais a partir das alterações nas leis e nas técnicas de investigação de paternidade ao longo do século XX. Ao recuperar os pontos nodais de mudança nas leis e nas técnicas, o objetivo não é tanto fornecer um pano de fundo histórico, mas analisar como as concepções presentes nas leis (e suas alterações ao longo do tempo) reverberam no modo pelo qual os sujeitos concebem suas relações atuais ou, ainda, na avaliação que fazem sobre o próprio passado. Assim, ao direcionar a atenção para narrativas de pessoas que desejam obter o reconhecimento legal de paternidade, a presente pesquisa discute o modo como os filhos, enquanto agentes dessa ação, atribuem sentidos à busca pelo pai e, conseqüentemente, à paternidade e à família. A partir de narrativas centradas na infância, na ausência do pai, no processo de busca pelo pai, nas relações presentes e nas expectativas futuras busquei analisar, ainda, como categorias, terminologias e práticas de parentesco, construídas historicamente, acionadas e delineadas cotidianamente nas relações, apareciam nas formas particulares pelas quais a busca pela paternidade poderia ser significada / Abstract: The present thesis analyses the life narratives of children that have searched at the present for the legal recognition of the biological father in order for us to understand how the meanings of fatherhood are constituted, are signified and re-signified in these particular experiences, questioning at the same time how paternity, filiation, and conjugality are mutually constituted as categories and social practices from the alterations in the laws and in the techniques of investigation of paternity during the twentieth century. As we recovered the nodal points of change in the laws and in the techniques, the aim is not much to offer a historical background, but to analyze how the conceptions present in the laws (and in their alterations along the time) can reverberate in the way by which the subjects conceive their actual relationships or, still, in the evaluation they make about their own past. Then, in guiding the attention to the narratives of people who desire to gain the legal recognition of paternity, the present research discusses the way the children attribute meanings to the quest for their fathers, and, consequently, to the paternity and to the family. Starting from narratives centered in the childhood, in the father's absence, in the process of searching for the father, in the actual relationships, and in the future expectations, I sought to analyze how categories, kinship terminologies and practices, constructed historically, set in motion and delineated on a day by day basis in the relationships, showed up in the particular forms by which the quest for fatherhood could make sense / Doutorado / Ciencias Sociais / Doutor em Ciências Sociais

<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.