Submitted by admin tede (tede@pucgoias.edu.br) on 2016-10-07T13:33:46Z No. of bitstreams: 1 TÚLIO SÉRGIO DE OLIVEIRA.pdf: 820156 bytes, checksum: 904d8a04a1677fa8754a3159741cd43a (MD5) / Made available in DSpace on 2016-10-07T13:33:46Z (GMT). No. of bitstreams: 1 TÚLIO SÉRGIO DE OLIVEIRA.pdf: 820156 bytes, checksum: 904d8a04a1677fa8754a3159741cd43a (MD5) Previous issue date: 2016-06-24 / Preeclampsia is an exclusive pathology of pregnancy, characterized by hypertension associated with proteinuria. It occurs after 20 weeks of pregnancy. Its prevalence is 8% in singleton pregnancies and 14% in twin pregnancies. It has an unknown etiology up to date. It is currently accepted that genetic factors are important in the development of preeclampsia due to the increased risk in women with family history of preeclampsia, with a history of preeclampsia in a previous pregnancy and on those with partners whose mothers or previous partner have a history of preeclampsia. Preeclampsia figures as the main cause of maternal mortality in Brazil and for this reason, its study is of great interest to public health. The objective of this study was to identify the scientific publications about on preeclampsia and possible associations with genetic alterations during the period of 2005-2015, in the Scopus platform. Different approaches were carried out to evaluate the articles, using as a method, scientometrics. As a result, we observed a significant increase in research and publications on polymorphism in preeclampsia, with a prevalence of authors, publications and institutions of developed countries and a significant association of 45 polymorphisms of genes with preeclampsia. We observed that polymorphisms of genes and the relationship between them is not clear and needs further studies to obtain more results that are consistent. / Pré-eclâmpsia é uma patologia exclusiva da gravidez, caracterizada por hipertensão arterial e proteinúria após 20 semanas de gestação. Sua prevalência é de 8% em gestações únicas e 14% em gestações gemelares. Possui etiopatogenia desconhecida até o momento. Atualmente é aceito que fatores genéticos são importantes no desenvolvimento da doença, devido ao aumento do risco em gestantes com histórico familiar, pré-eclâmpsia em gestação anterior e em parceiro cujas mães ou parceiras anteriores possuem histórico de pré-eclâmpsia. A pré-eclâmpsia figura como principal causa de mortalidade materna no Brasil e por essa razão, seu estudo é de grande interesse em saúde pública. O objetivo deste estudo foi identificar as publicações cientificas, durante o período de 2005 a 2015, presentes na plataforma SCOPUS sobre pré-eclâmpsia e possíveis associações com alterações genéticas. Foram realizadas diferentes abordagens de avaliação sobre os artigos, utilizando como método, a cienciometria. Como resultados, observamos um aumento significativo de pesquisas e publicações sobre polimorfismo na pré-eclâmpsia, com prevalência de autores, publicações e instituições de países desenvolvidos e uma associação significativa de 45 polimorfismos de genes com a pré-eclâmpsia. Observamos que os polimorfismos de genes e a relação entre eles, ainda não está esclarecido, necessitando estudos complementares para se obter resultados mais consistentes.

Cranberry common bean (Phaseolus vulgaris L.) is planted worldwide and consumed as a critical food source of human protein, fibre, carbohydrates, and minerals. Marsh spot (MS) is a physiogenic disorder which severely impacts seed quality in common beans. Previous studies indicate that MS involves a nutritional disorder caused by Mn deficiency. However, the inheritance and genetic mechanism of MS resistance are still not fully understood. To investigate the genetics of MS resistance, a population of 138 recombinant inbred lines (RILs) was developed from a bi-parental cross between a susceptible cultivar Messina and a resistant cultivar Cran09. The population and its two parents were evaluated for MS resistance during five consecutive years from 2015 to 2019 in both sandy and heavy clay soils in Morden, Manitoba, Canada. The severities of MS were rated and subsequently converted to MS resistance index (MSRI) and MS incidence (MSI). Statistical analyses indicated that MSI and MSRI were highly correlated (r = 0.96-0.99) and had high broad-sense heritability (H²) of 86.5% and 83.2%, respectively. Joint segregation analysis (JSA) of 18 phenotypic datasets from five years and two soil types showed that MS resistance was controlled by four major genes with genetic interactions - one of which may suppress the additive effect of the other three genes. To identify the quantitative trait loci (QTL) and the candidate genes associated with the MS resistance, the 138 RILs and the two parents were sequenced using genotyping by sequencing approach. A total of 52,676 SNPs were detected. After further filtering with a threshold of minor allele frequency > 0.01 and call rate > 20%, 2,061 SNPs were retained and then imputed for genetic map construction and QTL mapping. A genetic map consisting of 2,058 SNP markers on 11 linkage groups or chromosomes was constructed, which covered 1,004 recombination blocks with a total length of 6,449 cM and an average block of 6.42 cM. Three linkage map-based QTL-mapping models ICIM-ADD, ICIM-EPI, and GCIM and one genome-wide association study (GWAS) model RTM-GWAS for 18 phenotypic datasets from different years and soil types were used for identification of QTL. A total of 36 QTL, including 21 of additive and 15 of epistatic effects, were identified. Functional gene annotation analysis revealed 151 Mn-related candidate genes across the common bean reference genome and 17 of them harbored the six QTL discovered in this study. In conclusion, MS resistance in common bean is a highly heritable trait and controlled by several major and minor genes. The results of JSA and QTL mapping advance the current understanding of the genetic mechanisms of MS resistance in cranberry common bean, and provide additional resources for application in genomics-assisted breeding and potential isolation and functional characterization of the candidate genes.