A identificação de regiões cromossômicas, ou blocos de dependência dentro do genoma humano, que são transmitidas em conjunto para seus descendentes (haplótipos) tem sido um desafio e alvo de várias iniciativas de pesquisa, muitas delas utilizando dados de plataformas de marcadores moleculares do tipo SNP (Single Nucleotide Polymorphisms - SNPs), com alta densidade dentro do DNA humano. Este trabalho faz uso de uma modelagem estocástica de campos Markovianos de alcance variável, em uma amostra estratificada de diferentes populações, para encontrar blocos de SNPs, independentes entre si, estruturando assim o genoma em regiões ilhadas de dependência. Foram utilizados dados públicos de SNPs de diferentes populações mundiais (projeto HapMap), além de uma amostra da população brasileira. As regiões de dependência configuram janelas de influência as quais foram usadas para caracterizar as diferentes populações de acordo com sua ancestralidade e os resultados obtidos mostraram que as janelas da população brasileira têm, em média, tamanho maior, evidenciando a sua história recente de miscigenação. É também proposta uma otimização da função de verossimilhança do problema para obter as janelas de consenso maximais de todas as populações. Dada uma determinada janela de consenso, uma medida de distância apropriada para variáveis categóricas, é adotada para medir sua homogeneidade/heterogeneidade. Janelas homogêneas foram identificadas na região HLA (Human Leukocyte Antigen) do genoma, a qual está associada à resposta imunológica. O tamanho médio dessas janelas foi maior do que a média encontrada no restante do cromossomo, confirmando a alta dependência existente nesta região, considerada como bastante conservada na evolução humana. Finalmente, considerando a distribuição dos SNPs entre as populações nas janelas mais heterogêneas, a Análise de Correspondência foi aplicada na construção de um classificador capaz de determinar o percentual relativo de ancestralidade de um indivíduo, o qual, submetido à validação, obteve uma eficiência de 90% de acerto da população originária. / The identification of chromosome regions, or dependency blocks in the human genome, that are transmitted together to offspring (haploids) has been a challenge and object of several research initiatives, many of them using platforms of molecular markers such as SNP (Single Nucleotide Polymorphisms), with high density inside the human DNA. This work makes use of a stochastic modeling of Markov random fields, in a stratified sample of different populations, to find SNPs blocks, independent of each other, thus structuring the genome in stranded regions of dependency. Public data from different worldwide populations were used (HapMap project), beyond a Brazilian population. The dependence regions constitute windows of influence which were used to characterize the different populations according of their ancestry and the results showed that the Brazilian populations windows have, on average, a bigger size, showing their recent history of admixture. It is also proposed an optimization of likelihood function of the problem for the maximal windows of consensus from all populations. Given a particular window of consensus, a distance measure appropriated to categorical variables, it is adopted to evaluate its homogeneity/heterogeneity. Homogeneous windows were identified within region of genome called HLA (Human Leukocyte Antigen), which is associated with the immune response. The average size of these windows was bigger than the average found in the rest of the chromosome, confirming the high dependence verified in this region, considered highly conserved in the human evolution. Finally, considering the distribution of the SNPs among the populations in the most heterogeneous windows, the Correspondence Analysis was applied to build a classifier able to determine, for a given individual, the ancestry proportion from each population considered, which, submitted to a validation, obtained a 90% accuracy of the original population.

Positive identification of a deceased individual is one of the major aspects of modem forensic death investigations. Incomplete or fragmented skeletal remains pose a problem for identification because the normal methods forensic anthropologists employ for compiling a biological profile of the decedent are of no use. Ancestry is an important aspect of the biological profile that, when known, can help narrow the focus of investigations by excluding many individuals from the search scope. This thesis describes molecular genetic methods which can be used to estimate ancestry in order to aid in forensic identification when other methods fail. The Y chromosome is one aspect of the genome shown to contain markers which are associated with the geographical origins of its possessor. The laboratory aspect of this research involved taking bone samples from humerii, extracting DNA from these samples and then sequencing a number of Y-SNPs in order to predict the biogeographical origins of each sample. Performing this research demonstrated the steps involved in this type of genetic ancestral analysis. At present, anthropology can only distinguish between major population groups. However, as research continues to be performed, the discriminatory power of molecular genetic ancestral analyses such as this has the potential to be further refined so that sub-populations may be distinguished between. This could be of great value if introduced into the forensic community.

No description available.

No / School leavers with intellectual disabilities (ID) often face difficulties in making a smooth transition from school to college, employment or more broadly to adult life. The transition phase is traumatic for the young person with ID and their families as it often results in the loss of friendships, relationships and social networks. The aim of this study was to explore the family carers' views and experiences on transition from school to college or to adult life with special reference to ethnicity. Forty-three families (consisting of 16 White British, 24 Pakistani, 2 Bangladeshi and one Black African) were interviewed twice using a semi-structured interview schedule. The carers were interviewed twice, Time 1 (T1) and Time 2 (T2), T2 being a year later to observe any changes during transition. The findings indicate that although transition planning occurred it was relatively later in the young person's school life. Parents were often confused about the process and had limited information about future options for their son or daughter. All family carers regardless of ethnicity, reported lack of information about services and expressed a sense of being excluded. South Asian families experienced more problems related to language, information about services, culture and religion. The majority of families lacked knowledge and awareness of formal services and the transition process. Socio-economic status, high levels of unemployment and caring for a child with a disability accounted for similar family experiences, regardless of ethnic . The three key areas relevant for ethnicity are interdependence, religion and assumptions by service providers.

Thesis (MScMedSc (Biomedical Sciences. Molecular Biology and Human Genetics))--Stellenbosch University, 2008. / A South African family of Mixed Ancestry presented with a rapidly progressive dementia and a movement disorder which affected a number of individuals across three generations. The initial symptoms included personality changes and tremors that escalated to severe dementia and eventually a completely bedridden state. It was determined that the mean age at onset was in the third decade of life and affected individuals died within 10-15 years after the onset of symptoms. The aim of the present study was to elucidate the genetic cause of the disorder in this family and to further investigate the patho-biology of the disease. Mutations that could possibly cause the observed phenotype in this family were screened for. These included loci implicated in Huntington’s disease, Parkinson’s disease, Dentatorubral-Pallidoluysian Atrophy, Spinocerebellar ataxias (types 1, 2, 3, 6, and 7), Huntington’s disease-like 2 (HDL2) and several mitochondrial disorders. Single-strand Conformation Polymorphism (SSCP) analysis and direct sequencing were used to detect possible mutations while genotyping on an ABI genetic analyser was used to detect disorders caused by repeat expansions. Haplogroup and Short Tandem Repeats (STRs) analyses of the Y-chromosome and mitochondrial DNA of one affected family member was used to determine the family’s genetic ancestry. Reverse transcriptase polymerase chain reaction (RT- PCR) and complementary DNA (cDNA) analyses of the Junctophlin-3 (JPH3) gene was performed to provide information on the expression profile of this gene. After the exclusion of several genetic loci it was shown that this family had HDL2. This is a rare disease caused by a CAG/CTG repeat expansion in an alternatively spliced version of the JPH3 gene. HDL2 occurs almost exclusively in individuals of Black African ancestry. The genetic ancestry data suggested that the family member was most likely of South African Mixed Ancestry making this the first reported family of South African Mixed Ancestry with HDL2. A pilot study investigated the repeat distribution amongst three South African sub-populations in order to determine whether there was a bias in the repeat distribution that possibly predisposes Black Africans to develop the disease. The results showed a statistically significant difference (P= 0.0014) in the distribution of the repeats between the Black African and Caucasian cohorts. However, no conclusions could be drawn as to whether Black Africans harboured larger repeats that predisposes them to developing HDL2. The expanded repeat is located in an alternatively spliced version of the JPH3 mRNA. Interestingly, this repeat is not present in the mouse homologue of the gene although the rest of the genomic sequence is highly conserved across the human, mouse and chimpanzee genomes. Using foetal brain cDNA and PCR primers designed to be specific for different JPH3 isoforms, independent confirmation of the presence of two JPH3 mRNA transcripts (the full length and a shorter alternatively spliced version) was provided. In the absence of brain tissue from an HDL2-affected individual, it was investigated whether both JPH3 mRNA transcripts could be detected in lymphocytes. Using RNA isolated from the transformed lymphocytes of two HDL2-affected family members, real-time PCR was attempted. These experiments produced inconclusive results and required further optimisation. Further RT-PCR experiments for JHP3 expression in different tissues (brain and other) obtained from HDL2-affected individuals would be of interest. The present study identified the first Mixed Ancestry family with HDL2. This family will now be able to request genetic counselling and pre-symptomatic testing for all at-risk family members. Aspects of this study provided independent confirmation of characteristics of the mutated gene. More research on HDL2 will be crucial in understanding the pathogenesis of this disease.

Deux principaux événements colonisateurs ont apporté de nouvelles vagues de migration au Québec : La fondation de la Nouvelle France, de 1608 à 1763 et la conquête du territoire par les Britanniques après 1763. Afin d’étudier les différences et similarités entre ces dernières et les interactions possibles entre les migrants et les communautés locales déjà présentes sur le territoire, la morphologie dentaire, un outil permettant de proposer des interprétations d’ordre paléogénétique sur l’origine des populations passées, a été analysée pour les deux groupes suivants: 37 individus provenant du cimetière de la première église Notre-Dame à Montréal (1691-1796); et 61 individus provenant du cimetière de Saint-Matthew à Québec (1771-1860). À cette fin, le protocole de l’Arizona State University -Dental Anthropology System a été utilisé pour la collecte de données. La mesure moyenne de divergence et une analyse d’hétérogénéité des populations (Matrice R et Fst modifiés pour les données non-métriques) ont été ensuite calculées. Les valeurs de biodistance confirment que la majorité des individus observés pour les deux collections sont d’ascendance européenne. L’analyse intra-populationnelle a aussi permis d’identifier certains individus, probablement métis, qui s’approchent de la variation amérindienne. Il semble aussi, selon la matrice R et les valeurs Fst calculées pour les deux échantillons, que Notre-Dame est légèrement plus hétérogène et semble avoir incorporé une composante amérindienne un peu plus importante que Saint-Matthew, probablement par métissage, faisant suite, par exemple, à l’incorporation d’individus Amérindiens convertis dans les premières sociétés coloniales. Bien que nos résultats soient très préliminaires, la relation qu’ont entretenue ces deux populations d’origine européenne avec les populations locales, semble avoir varié au cours du temps, en fonction du contexte politique et économique des différentes vagues de migration européenne. Le degré de métissage plus élevé à Montréal au XVIIIe siècle qu’à Québec au XIXe siècle pourrait ainsi refléter un besoin plus pressant de la part des premiers migrants européens de se faire des alliés amérindiens en vue de la réussite du projet colonisateur. / Two colonisation events occurred in Quebec, from 1608 to 1763 (New France), and after 1763 (British Regime), providing new waves of immigrants. In order to examine differences and similarities between the latter waves and the possible interactions between the immigrants and the local communities already living on the territory, dental morphology, which allows us to propose paleogenetic interpretations on the ancestry of past populations, has been analysed for the following two groups: 37 individuals from the cemetery of the Première Église Notre-Dame in Montreal (1691-1796); and 61 individuals from the cemetery of Saint-Matthew in Quebec City (1771-1860). We used the Arizona State University’s -Dental Anthropology System protocol for the observation of dental traits. Mean measures of divergence and population heterogeneity analysis (R Matrix and Fst modified for non-metric data) were calculated. Biodistance values confirm that the majority of the analysed individuals from both collections were of European ancestry. However, intra-population analysis was able to identify certain individuals who were closer to Native American variation. Furthermore, results of R matrix and Fst tests showed that Notre-Dame sample was slightly more heterogeneous. It seemed to have incorporated more of a Native American component than Saint-Matthew, probably through admixture, which was a consequence of the assimilation of “Christianised” Native Americans within the early colonial society. Therefore, although our results are preliminary, interactions between Europeans and local groups seem to have changed through time as a result of colonisation. The higher levels of admixture in the 18th century Montreal (in comparison to the 19th century Quebec City) might reflect a rather urgent need from the first European migrants to set up alliances with Native Americans for the long-term viability of the colony.

O presente estudo analisa, numa perspectiva comparativa, as narrativas Ponciá Vicêncio, de Conceição Evaristo e Um rio chamado tempo, uma casa chamada terra de Mia Couto( António Emílio Leite Couto). A hipótese principal da pesquisa é a de que nos textos, cada qual ao seu modo, e compreendidos na esteira das produções culturais da diáspora negra, a morte e ancestralidade, motivos de nossas análises, figuram como temas emergentes de um contexto de ação transnacional da diáspora negra de tal modo que evidenciam as relações conflituosas e encenam os desejos utópicos dos racialmente sujeitados pela modernidade que voluntariamente adulteram, inclusive, os modos de representação literários. Para que se tornasse possível a realização do estudo contamos com os subsídios dos seguintes autores: Stuart Hall, Paul Gilroy, e Èdouard Glissant. / The present study analyzed, in a comparative perspective, the narratives Ponciá Vicêncio, from Conceição Evaristo and A river called time, a house called earth from Mia Couto (António Emílio Leite Couto). The research main hypothesis is that inside the texts, each one in your own way, and understood in the course of cultural productions from black diaspora, the death and ancestry, the reason of ours analyses, figure as emergent themes from a context of transnational action due black diaspora, in such way of making evident conflicting relationships and showing the utopian desires from modernity racially subjected that spontaneously, falsify, included, the literary representation ways. In order to realize the task the possibility of this study we count on the following authors assistance: Stuart Hall, Paul Gylroy, e Èdourd Glissant.

A genética forense vem se desenvolvendo cada vez mais, com novas tecnologias e implementação de novos conjuntos de marcadores de DNA com maiores níveis de informatividade. Os marcadores genéticos são amplamente usados na identificação humana, pois permitem distinguir indivíduos com alta acurácia. Duas classes de marcadores muito utilizadas atualmente são os STRs (Short Tandem Repeats) e os SNPs (Single Nucleotide Polymorphisms). Os STRs são altamente informativos e, portanto, úteis para a prática forense. Kits mais novos como GlobalFiler (Thermo Fisher Scientific) e PowerPlex Fusion System (Promega) apresentam a análise de mais de 20 loci STRs de uma só vez. Já os SNPs, por possuírem sua informatividade mais reduzida (necessita de mais loci analisados), são menos utilizados, porém apresentam vantagem em amostras degradadas de DNA; assim, conjuntos de identificação como o 52-plex desenvolvido pelo consórcio SNPforID e o conjunto IISNPs, vêm sendo estudados em várias populações do mundo. Com o desenvolvimento de técnicas de sequenciamento de nova geração (NGS Next Generation Sequencing) para análise de DNA, a obtenção de perfis de DNA se tornou mais acurada. Algumas plataformas permitem gerar perfis de até 96 indivíduos simultaneamente. Este estudo tem por objetivo principal analisar 171 marcadores genéticos (Amelogenina, Y-INDEL, 30 STRSs e 139 SNPs) em 340 indivíduos miscigenados da região da cidade de Ribeirão Preto (SP) utilizando a plataforma de sequenciamento de nova geração MiSeq Personal Sequencer (Illumina Inc.), bem como calcular as frequências alélicas e genotípicas, verificar a aderência ao equilíbrio de HardyWeinberg e estimar parâmetros forenses para os diferentes conjuntos de marcadores. Análises de ancestralidade foram realizadas para os conjuntos de SNPs. Para o preparo das bibliotecas de amostras a serem sequenciadas, foi utilizado o kit HaloPlex (Agilent Technologies, Inc), onde foram incluídos os marcadores dos kits GlobalFiler e PowerPlex Fusion System, e os SNPs existentes no conjunto do consórcio SNPforID (52-plex) e IISNPs (92 SNPs). De todos os marcadores incluídos no ensaio, apenas um SNP (rs763869) presente no conjunto SNPforID não pôde ser analisado devido a questões técnicas. Dos 139 SNPs analisados apenas seis apresentaram desvios significativos em relação ao equilíbrio de Hardy-Weinberg,número este esperado devido ao acaso. Os conjuntos de SNPs apresentam elevada informatividade com Probabilidade de Match de 6,48 x 10-21 (52-plex) a 4,91 x 10-38 (IISNP), e Poder de Exclusão de 0,9997 (52-plex) e 0,99999997 (IISNP). De modo geral, as inferências de ancestralidade obtida utilizando estes conjuntos, indicaram elevada contribuição europeia (superior a 70%) e baixa contribuição ameríndia (inferior a 10%) na população, enquanto que as análises de mistura individual se mostraram consistentes, com a maioria dos indivíduos apresentando elevada ancestralidade europeia. Os resultados dos marcadores relativos ao sexo (Amelogenina, Y-INDEL e DYS391) foram consistentes com o sexo dos doadores das amostras. As frequências alélicas e parâmetros forenses foram calculados para os STRs, revelando uma alta informatividade. A Probabilidade de Match combinada e o Poder de Exclusão combinado foram de 1,19 x 10-36 e 0,999999999997 respectivamente. Dos 29 STRs autossômicos presentes, seis apresentaram desvios ao equilíbrio de Hardy-Weinberg, refletindo possíveis falhas no sequenciamento e genotipagem destes marcadores / The field of forensic genetics has developed increasingly with the implementation of new sets of DNA markers with higher levels of informativeness. The genetic markers are widely used in human identification as they allow distinguishing individuals with high accuracy. Two of the most commonly used markers are the Short Tandem Repeats (STRs) and the Single Nucleotide Polymorphisms (SNPs). Newer kits such as GlobalFiler (Thermo Fisher Scientific) and PowerPlex Fusion System (Promega) can analyze more than 20 STRs loci at once. When comparing with STRs, the SNPs are less informative and many more loci are needed to reach the same informativeness of STR kits. However, they are advantageous when using degraded DNA samples. The identification sets such as the 52-plex developed by the SNPforID Consortium and the IISNPs have been analyzed in many worldwide populations. With the development of next generation sequencing techniques (NGS Next Generation Sequencing), obtaining DNA profiles has become more accurate and some platforms allow generating profiles of up to 96 individuals simultaneously. The main goal of this study is to analyze 171 markers (Amelogenin, Y-INDEL, 30 STRs and 139 SNPs) in 340 admixed individuals from Ribeirão Preto, SP, using the NGS platform MiSeq Personal Sequencer (Illumina Inc.). This will allow the calculation of allele and genotype frequencies, the verification of adherence to Hardy-Weinbergs equilibrium and the estimation of forensic parameters for each set of marker. Ancestry analysis was performed for the sets of SNPs. The HaloPlex kit (Agilent Technologies, Inc) was used for library preparation including the STRs from the kits GlobalFiler and PowerPlex Fusion System and the SNPs from the SNPforID consortium (52-plex) and IISNPs (92 SNPs) identification sets. A single SNP (rs763869) from the SNPforID set was not analyzed due to technical issues. Only six of the 139 analyzed SNPs presented significant deviation from the Hardy-Weinberg equilibrium expectations, which is expected by chance alone. The SNPs sets exhibited high informativeness, with matchprobability ranging from 6.48 x 10-21 (52-plex) to 4.91 x 10-38 (IISNPs) and exclusion power of 0.9997 (52-plex) and 0.99999997 (IISNPs). In general, ancestry estimates obtained using these sets indicated a high European contribution (higher than 70%) and low Amerindian contribution (less than 10%) in the population sample, while the individual admixture analyses exhibited were highly consistent, with the majority of individuals presenting high European ancestry. The results of the sex markers (Amelogenin, Y-INDEL and DYS391) were in agreement with the reported sexes from sample donors. The allele frequencies and forensic parameters calculated for the STRs revealed high informativeness. The combined match probability and the combined exclusion power were 1.19 x 10-36 and 0.999999999997 respectively. Six of the 29 autosomal STRs presented significant deviations from the HardyWeinberg equilibrium expectations, reflecting possible failures in sequencing and genotyping of these markers

Made available in DSpace on 2016-08-10T11:06:54Z (GMT). No. of bitstreams: 1 JULIA DE SOUSA NETO.pdf: 567011 bytes, checksum: dc698593e50ee8a1fba0c35df7c88258 (MD5) Previous issue date: 2013-03-22 / The object of this study is the novel Terra Sonâmbula, by Mia Couto, which fictionalizes African traditions and religion, referencing elements such as oral history, the figure of ancestry, magic and the belief in the possibility of interfering in material life through the use of supernatural forces. Our goal is to show how the ancestry is represented in the fictional of Terra sonâmbula. Therefore, we investigate identity, time, space and ancestry as modalities of human experience, worked by the speech of the characters, narrators and voices present in the narrative. We dialogue with authors like Angela Bello (1998), Irene Dias de Oliveira (2002), Ana Mafalda Leite (2003), Rita Chaves (2005), among other views on religion and ancestry, changes related to the colonial period and on the uses and customs, knowledge and techniques of African myths and rites. To explain, in a theoretical way, the presence of the sacred, the profane and questions about the myths, we have Mircea Eliade (2001, 2010, 2012); and to talk about identity and culture, we count on Homi Bhabha (2001), and Stuart Hall (2006). Besides these authors, we also dialogue with scholars who study the work of Mia Couto, with the intention of to identify answers to our questions about Terra Sonâmbula on the light of ancestry which is the subject of this work. / O objeto desta pesquisa é o romance Terra sonâmbula de Mia Couto, obra que ficcionaliza tradições e religiosidade africanas, fazendo constantemente referência a elementos como a história oral, a figura da ancestralidade, a magia e a crença na possibilidade de interferir na vida material por meio do uso de forças sobrenaturais. O nosso objetivo é o de mostrar como a ancestralidade é representada no tecido ficcional de Terra sonâmbula. Para tanto, investigamos identidade, tempo, espaço e ancestralidade como modalidades da experiência humana, trabalhadas pelo discurso das personagens, narradores e vozes presentes na narrativa. Dialogamos com autoras como Ângela Bello (1998), Irene Dias de Oliveira (2002), Ana Mafalda Leite (2003), Rita Chaves (2005), entre outros pontos de vista sobre a religião e a ancestralidade, as mudanças relativas ao período colonial e sobre os usos e costumes, o conhecimento e as técnicas dos ritos e mitos africanos. Para explicar, de forma teórica, a presença do sagrado e do profano, questões sobre os mitos, temos Mircea Eliade (2001, 2010, 2012); para falar sobre identidade e cultura, temos Homi Bhabha (2001) e Stuart Hall (2006). Além desses autores, dialogamos com estudiosos da obra de Mia Couto, com o intuito de identificar respostas às nossas indagações sobre Terra sonâmbula à luz da ancestralidade, tema deste trabalho.

O lúpus eritematoso sistêmico (LES) é uma doença autoimune com forte componente genético, caracterizada por inflamação crônica e produção de autoanticorpos. O objetivo deste trabalho foi determinar o perfil de variação no número de cópias (CNVs) e de regiões de perda de heterozigose (LOH) na patogênese do LES. A detecção de CNVs e LOH foi feita pela metodologia Cytoscan HD array em pacientes com LES (n = 23) e indivíduos saudáveis (n = 110). Devido à formação tri-híbrida da população brasileira, foi desenvolvido e validado um painel de 345 marcadores informativos de ancestralidade, a partir dados provenientes do próprio array, para estimar as proporções de ancestralidade individual e, em última instância, inseri-las nos modelos de regressão logística como variável de controle nas análises de distribuição de CNVs e LOH. O perfil de CNVs evidenciou que o número e o tamanho de duplicações são maiores nos indivíduos saudáveis do que nos pacientes com LES. Duplicações nos genes FCGR3B e ADAM3A foram descritas como fator de proteção ao LES, quando tais genes foram avaliados por PCR quantitativa em maior grupo amostral de pacientes (n = 135) e controles (n = 200). Além disso, mostrou-se o efeito sinérgico da presença da deleção em ambos os loci FCGR3B e ADAM3A no aumento do risco para desenvolver a doença. Deleções em pacientes com LES envolvendo os genes CFHR4, CFHR5 e HLA-DPB2, previamente descritos em associação com o LES na literatura, foram identificadas por array e confirmadas por PCR digital. O protocolo desenvolvido para identificação de variantes raras, resultou em um conjunto de 21 CNVs raras em pacientes com LES. Em relação às regiões de perda de heterozigose, não foram encontradas evidências de que o número médio e a extensão dos segmentos LOH seja diferente entre pacientes e indivíduos saudáveis. No entanto, os cromossomos 6 e 12 em pacientes exibem regiões de perda de heterozigose em maior quantidade e tamanho do que os de indivíduos saudáveis, além de apresentarem 17 segmentos LOH restritos ao grupo de pacientes com LES. Os resultados aqui descritos evidenciam que novos loci de susceptibilidade ao LES podem ser encontrados quando a distribuição de CNVs é analisada em todo o genoma, em que a investigação de sua relação com a patogênese pode contribuir para a compreensão da base genética da doença. / Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic background characterized by chronic inflammation and autoantibody production. The purpose of this study was to determine the copy number variation (CNV) and loss of heterozygosity (LOH) profiles in the susceptibility to SLE. The detection of CNVs and LOH was performed by the Cytoscan HD array methodology in SLE patients (n = 23) and healthy subjects (n = 110). Due to the tri-hybrid composition of the Brazilian population, a panel of 345 ancestral informative markers was developed and validated, based on data from the array itself, to estimate the proportions of individual ancestry and, ultimately, to insert them into the logistic regression models as a control variable in the analysis of CNV and LOH distribution. The CNVs profile showed that the burden and the size of duplications are higher in healthy individuals than in SLE patients. Duplications in FCGR3B and ADAM3A genes were described as a protective factor for SLE, when these genes were evaluated by quantitative PCR in a larger SLE (n = 135) and control (n = 200) groups. In addition, the synergistic effect of the presence of deletion in both FCGR3B and ADAM3A loci increase the risk of developing the disease. Deletions in SLE patients encompassing the CFHR4, CFHR5 and HLA-DPB2 genes, previously described in the literature in association to SLE, were identified by the array and confirmed by droplet digital PCR. The pipeline developed here for the identification of rare variants resulted in a set of 21 rare CNVs in SLE patients. Regarding the loss of heterozygosity regions, no evidence was found that the mean number and extent of LOH segments is different between patients and healthy individuals. However, the chromosomes 6 and 12 in SLE patients exhibit greater quantity and size of LOH than those of healthy individuals, besides showing 17 LOH segments restricted to the group of SLE. The results described here show that novel susceptibility loci to SLE can be found once the distribution of variants is analyzed throughout the genome, in which the investigation of its relation to the pathogenesis may contribute to the understanding of the genetic basis of the disease.