Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.
Biomed Res Int
; 2020: 9074760, 2020.
Article
em En
| MEDLINE
| ID: mdl-32596391
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>Ap.Gly253Arg; c.1352G>Tp.Gly451Val] who had the highest European composition.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Limite:
Humans
País/Região como assunto:
America do sul
/
Ecuador
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article