Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.

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  • Additional Information
    • Affiliation:
      Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Av. Mariscal Sucre and Mariana de Jesús, Block I, Quito 170129, Ecuador
      Universidad de Especialidades Espíritu Santo (UEES), Guayaquil, Ecuador
      Instituto de Biomedicina, Universidad Católica de Santiago de Guayaquil, Guayaquil, Ecuador
      Instituto Oncológico Nacional de la Sociedad de Lucha Contra el Cáncer (ION-SOLCA), Guayaquil, Ecuador
    • Subject Terms:
    • Subject Terms:
    • Abstract:
      The incidence of cystic fibrosis (CF) and the frequency of the variants reported for CFTR depend on the population; furthermore, CF symptomatology is characterized by obstructive lung disease and pancreatic insufficiency among other symptoms, which are reliant on the individual's genotype. The Ecuadorian population is a mixture of Native Americans, Europeans, and Africans. That population admixture could be the reason for the new mutations reported in a previous study by Ruiz et al. (2019). A panel of 46 Ancestry Informative Markers was used to estimate the ancestral proportions of each available sample (12 samples in total). As a result, the Native American ancestry proportion was the most prevalent in almost all individuals, except for three patients from Guayaquil with the mutation [c.757G>A:p.Gly253Arg; c.1352G>T:p.Gly451Val] who had the highest European composition.
    • Journal Subset:
      Biomedical; Peer Reviewed; USA
    • ISSN:
      2314-6133
    • MEDLINE Info:
      NLM UID: 101600173
    • Publication Date:
      20200605
    • Publication Date:
      20200605
    • DOI:
      10.1155/2020/9074760
    • Accession Number:
      143540916
  • Citations
    • ABNT:
      PAZ-Y-MIÑO, C. et al. Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR. BioMed Research International, [s. l.], p. 1–6, 2020. DOI 10.1155/2020/9074760. Disponível em: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=rzh&AN=143540916. Acesso em: 24 out. 2020.
    • AMA:
      Paz-y-Miño C, Zambrano AK, Ruiz-Cabezas JC, et al. Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR. BioMed Research International. June 2020:1-6. doi:10.1155/2020/9074760
    • APA:
      Paz-y-Miño, C., Zambrano, A. K., Ruiz-Cabezas, J. C., Armendáriz-Castillo, I., García-Cárdenas, J. M., Guerrero, S., López-Cortés, A., Pérez-Villa, A., Guevara-Ramírez, P., Yumiceba, V., & Leone, P. E. (2020). Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR. BioMed Research International, 1–6. https://doi.org/10.1155/2020/9074760
    • Chicago/Turabian: Author-Date:
      Paz-y-Miño, César, Ana Karina Zambrano, Juan Carlos Ruiz-Cabezas, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Santiago Guerrero, Andrés López-Cortés, et al. 2020. “Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.” BioMed Research International, June, 1–6. doi:10.1155/2020/9074760.
    • Harvard:
      Paz-y-Miño, C. et al. (2020) ‘Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR’, BioMed Research International, pp. 1–6. doi: 10.1155/2020/9074760.
    • Harvard: Australian:
      Paz-y-Miño, C, Zambrano, AK, Ruiz-Cabezas, JC, Armendáriz-Castillo, I, García-Cárdenas, JM, Guerrero, S, López-Cortés, A, Pérez-Villa, A, Guevara-Ramírez, P, Yumiceba, V & Leone, PE 2020, ‘Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR’, BioMed Research International, pp. 1–6, viewed 24 October 2020, .
    • MLA:
      Paz-y-Miño, César, et al. “Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.” BioMed Research International, June 2020, pp. 1–6. EBSCOhost, doi:10.1155/2020/9074760.
    • Chicago/Turabian: Humanities:
      Paz-y-Miño, César, Ana Karina Zambrano, Juan Carlos Ruiz-Cabezas, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Santiago Guerrero, Andrés López-Cortés, et al. “Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.” BioMed Research International, June 2, 2020, 1–6. doi:10.1155/2020/9074760.
    • Vancouver/ICMJE:
      Paz-y-Miño C, Zambrano AK, Ruiz-Cabezas JC, Armendáriz-Castillo I, García-Cárdenas JM, Guerrero S, et al. Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR. BioMed Research International [Internet]. 2020 Jun 2 [cited 2020 Oct 24];1–6. Available from: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=rzh&AN=143540916