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

Paz-y-Mino, C.; Zambrano, A. K.; Ruiz-Cabezas, J. C.; Armendariz-Castillo, I.; Garcia-Cardenas, J. M.; Guerrero, S.; Lopez-Cortes, A.; Perez-Villa, A.; Guevara-Ramirez, P.; Yumiceba, V.; Leone, P. E.

doi:10.1101/2020.05.06.081653

bioRxiv · 10.1101/2020.05.06.081653

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

Paz-y-Mino, C.·Zambrano, A. K.·Ruiz-Cabezas, J. C.·Armendariz-Castillo, I.·Garcia-Cardenas, J. M.·Guerrero, S.·Lopez-Cortes, A.·Perez-Villa, A.·Guevara-Ramirez, P.·Yumiceba, V.·Leone, P. E.

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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.

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Paz-y-Mino, C., Zambrano, A. K., Ruiz-Cabezas, J. C., Armendariz-Castillo, I., Garcia-Cardenas, J. M., Guerrero, S., Lopez-Cortes, A., Perez-Villa, A., Guevara-Ramirez, P., Yumiceba, V., Leone, P. E.. 2020-05-08. Characterization Of Ancestral Origin Of Cystic Fibrosis Of Patients With New Reported Mutations In CFTR. https://doi.org/10.1101/2020.05.06.081653

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