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Characterization Of Ancestral Origin Of Cystic Fibrosis Of Patients With New Reported Mutations In CFTR

View ORCID ProfileCésar Paz-y-Miño, View ORCID ProfileAna Karina Zambrano, Juan Carlos Ruiz-Cabezas, View ORCID ProfileIsaac Armendáriz-Castillo, View ORCID ProfileJennyfer M. García-Cárdenas, View ORCID ProfileSantiago Guerrero, View ORCID ProfileAndrés López-Cortés, View ORCID ProfileAndy Pérez-Villa, View ORCID ProfilePatricia Guevara-Ramírez, View ORCID ProfileVerónica Yumiceba, View ORCID ProfilePaola E. Leone
doi: https://doi.org/10.1101/2020.05.06.081653
César Paz-y-Miño
1Centro 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
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  • For correspondence: cesar.pazymino@ute.edu.ec
Ana Karina Zambrano
1Centro 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
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Juan Carlos Ruiz-Cabezas
2Universidad de Especialidades Espíritu Santo (UEES). Guayaquil-Ecuador
3Instituto de Biomedicina, Universidad Católica de Santiago de Guayaquil. Guayaquil – Ecuador
4Instituto Oncológico Nacional de la Sociedad de Lucha Contra el Cáncer (ION-SOLCA). Guayaquil-Ecuador
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Isaac Armendáriz-Castillo
1Centro 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
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Jennyfer M. García-Cárdenas
1Centro 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
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Santiago Guerrero
1Centro 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
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Andrés López-Cortés
1Centro 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
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Andy Pérez-Villa
1Centro 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
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Patricia Guevara-Ramírez
1Centro 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
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Verónica Yumiceba
1Centro 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
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Paola E. Leone
1Centro 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
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Abstract

The incidence of Cystic fibrosis (CF) and the frequency of the variants for CFTR depend on the population; furthermore, CF symptomatology is characterized by obstructive lung disease, pancreatic insufficiency among others, reliant on the individual genotype. 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.

Competing Interest Statement

The authors have declared no competing interest.

Footnotes

  • César Paz-y-Miño: cesar.pazymino{at}ute.edu.ec Ana Karina Zambrano: anazambrano17{at}hotmail.com Juan Carlos Ruiz-Cabezas: jcruizc{at}hotmail.com Isaac Armendáriz-Castillo: fabian.armendariz{at}ute.edu.ec Jennyfer García-Cárdenas: jennyfer.garcia{at}ute.edu.ec Santiago Guerrero: santiago.guerrero{at}ute.edu.ec Andrés López-Cortés: andresa.lopez{at}ute.edu.ec Andy Pérez-Villa: andy.perez{at}ute.edu.ec Patricia Guevara-Ramírez: alexandra.guevara{at}ute.edu.ec Verónica Yumiceba: veronica.yumiceba{at}ute.edu.ec Paola E. Leone: paola.leone{at}ute.edu.ec

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
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Characterization Of Ancestral Origin Of Cystic Fibrosis Of Patients With New Reported Mutations In CFTR
César Paz-y-Miño, Ana Karina Zambrano, Juan Carlos Ruiz-Cabezas, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Santiago Guerrero, Andrés López-Cortés, Andy Pérez-Villa, Patricia Guevara-Ramírez, Verónica Yumiceba, Paola E. Leone
bioRxiv 2020.05.06.081653; doi: https://doi.org/10.1101/2020.05.06.081653
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Characterization Of Ancestral Origin Of Cystic Fibrosis Of Patients With New Reported Mutations In CFTR
César Paz-y-Miño, Ana Karina Zambrano, Juan Carlos Ruiz-Cabezas, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Santiago Guerrero, Andrés López-Cortés, Andy Pérez-Villa, Patricia Guevara-Ramírez, Verónica Yumiceba, Paola E. Leone
bioRxiv 2020.05.06.081653; doi: https://doi.org/10.1101/2020.05.06.081653

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