Study of the Huntington's disease IT-15 gene in different ethnic groups in Ecuador.
AuthorPaz-Y-Miño, C; Salazar-Ruales, C; García-Cárdenas, JM; Cabrera-Andrade, A; López-Cortés, A; Pavón-Realpe, VH; Eras, E; Rodriguez P, C; Domínguez Enríquez, JP; Cusco Cuzco, CD; ...
Source TitleClinical Genetics: an international journal of genetics and molecular medicine
University of Melbourne Author/sSalazar Ruales, Carolina
AffiliationMedicine Dentistry & Health Sciences
Document TypeJournal Article
CitationsPaz-Y-Miño, C., Salazar-Ruales, C., García-Cárdenas, J. M., Cabrera-Andrade, A., López-Cortés, A., Pavón-Realpe, V. H., Eras, E., Rodriguez P, C., Domínguez Enríquez, J. P., Cusco Cuzco, C. D., Navarrete Socasi, D. C. & Leone, P. E. (2017). Study of the Huntington's disease IT-15 gene in different ethnic groups in Ecuador.. Clin Genet, 92 (5), pp.544-547. https://doi.org/10.1111/cge.13028.
Access StatusOpen Access
This study aims to establish the current state of the IT-15 (HTT) gene in different Ecuadorian ethnic groups and patients by determining CAG triplet repeats, compared with the ethnicity of individuals. A total of 412 individuals were studied using nested polymerase chain reaction and Sanger sequencing: 75 individuals were indigenous (Kichwas), 211 mestizos, and 65 Afro-Ecuadorians. We included 31 patients who were clinically diagnosed with Huntington's disease (HD) and relatives of the affected patients (n = 30). Moreover, we correlated the presence of HD in Ecuadorian patients with 46 genetic ancestry-informative insertion-deletion polymorphic markers. We found that 77.20% had <28 CAG repetitions, 18.80% had mutable alleles, 2.27% had incomplete penetrance, and 1.70% reflected >39 repetitions. The average of CAG repetitions was 24 ± 3 for indigenous people; 28 ± 2 for mestizos; and 24 ± 3.2 repetitions for the Afro-Ecuadorians. The ancestral component showed that the main ancestry corresponded to Native Americans (0.873) and European ascendants (0.145), Africans were less represented in the evaluated population (0.018). There was a significant difference between the number of CAG repeats in mestizos and indigenous people (P < .01), suggesting that the Ecuadorian mestizo population has a risk factor for the gene mutation.
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