Navegando por Palavras-chave "Ion torrent"

Agora exibindo 1 - 2 de 2
  • Imagem de Miniatura
    Item
    Acesso aberto (Open Access)
    Estudo clínico e molecular em pacientes com artrogripose distal
    (Universidade Federal de São Paulo (UNIFESP), 2017-02-22) Nicola, Pablo Domingos Rodrigues De [UNIFESP]; Perez, Ana Beatriz Alvarez [UNIFESP]; Abath Neto, Osório Lopes; http://lattes.cnpq.br/4784102068388854; http://lattes.cnpq.br/8077340861513133; Universidade Federal de São Paulo (UNIFESP)
    Distal Arthrogryposis (DA) is a group of monogenic diseases of autosomal dominant inheritance, with incomplete penetrance, variable expressivity, characterized by congenital contractions of the distal joints of the limbs, not being caused by defects of the central and peripheral nervous system, by myopathies or by metabolic diseases. Ten different syndromes make up this group, the most common being DA1, DA2A and DA2B. Mutations in genes encoding skeletal muscle proteins (ECEL1, FBN2, MYBPC1, MYH3, MYH8, TNNI2, TNNT3, TPM2 and PIEZO2) are responsible for the etiology of AD. Objective: To describe clinical and molecular findings in patients with AD. To study the genes ACTA1, MYBPC1, MYH3, MYH8, TNNI2, TNNT1, TNNT3 and TPM2, in patients with AD and in their respective parents. To classify patients into syndromic groups and into molecular groups. Method: Evaluation of patients with congenital multiple arthrogryposis according to the clinical protocol. Extraction of genomic DNA from peripheral blood. State-of-the-art sequencing (NGS) using a panel of 8 genes (ACTA1, MYBPC1, MYH3, MYH8, TNNI2, TNNT1, TNNT3, TPM2). Validation of variants found in NGS by performing Sanger sequencing. Results: Among 106 patients with congenital multiple arthrogryposis, 19 subjects fulfilled the inclusion criteria for AD, 14 sporadic cases and 5 familial cases. Among the 19 individuals with AD, 7 individuals presented variants considered pathogenic, being 4 sporadic cases and 3 cases in the same family. Conclusions: Three variants of the MYH3 gene (c.1402T> C, c.2015G> A and c.5254G> T) were reported in individuals with DA1, DA2A and DA2B, two variants never described in the literature; one in the MYH8 gene (c.3349 + 1G> T) in an individual with DA7, not reported in the literature; and one in the TNNT3 gene (c.187C> T) in a sporadic case of DA2B and in 3 familial cases with DA2B that present phenotypic variability.
  • Imagem de Miniatura
    Item
    Acesso aberto (Open Access)
    Fungal diversity in deep-sea sediments associated with asphalt seeps at the Sao Paulo Plateau
    (Pergamon-Elsevier Science Ltd, 2017) Nagano, Yuriko; Miura, Toshiko; Nishi, Shinro; Lima, Andre O.; Nakayama, Cristina [UNIFESP]; Pellizari, Vivian H.; Fujikura, Katsunori
    We investigated the fungal diversity in a total of 20 deep-sea sediment samples (of which 14 samples were associated with natural asphalt seeps and 6 samples were not associated) collected from two different sites at the Sao Paulo Plateau off Brazil by Ion Torrent PGM targeting ITS region of ribosomal RNA. Our results suggest that diverse fungi (113 operational taxonomic units (OTUs) based on clustering at 97% sequence similarity assigned into 9 classes and 31 genus) are present in deep-sea sediment samples collected at the Sao Paulo Plateau, dominated by Ascomycota (74.3%), followed by Basidiomycota (11.5%), unidentified fungi (7.1%), and sequences with no affiliation to any organisms in the public database (7.1%). However, it was revealed that only three species, namely Penicillium sp., Cadophora malorum and Rhodosporidiwn diobovatum, were dominant, with the majority of OTUs remaining a minor community. Unexpectedly, there was no significant difference in major fungal community structure between the asphalt seep and non-asphalt seep sites, despite the presence of mass hydrocarbon deposits and the high amount of macro organisms surrounding the asphalt seeps. However, there were some differences in the minor fungal communities, with possible asphalt degrading fungi present specifically in the asphalt seep sites. In contrast, some differences were found between the two different sampling sites. Classification of OTUs revealed that only 47 (41.6%) fungal OTUs exhibited >97% sequence similarity, in comparison with pre-existing ITS sequences in public databases, indicating that a majority of deep-sea inhabiting fungal taxa still remain undescribed. Although our knowledge on fungi and their role in deep-sea environments is still limited and scarce, this study increases our understanding of fungal diversity and community structure in deep-sea environments.