Caracterizaci?n molecular de la variaci?n gen?tica en cuatro etnias ind?genas

167 P?ginas. Recurso Electr?nicoLas poblaciones colombianas humanas modernas poseen una estructura gen?tica compleja debido a la mezcla amerindia, europea y africana, ocurrida en diferentes proporciones a lo largo del pa?s. En el Tolima se desarroll? un estudio gen?tico para caracterizar las tres ancestr?as mencionadas, compar?ndolas con otra poblaci?n localizada en la Costa Caribe (C?rdoba). Se obtuvo ADN a partir de muestras de sangre tomadas en personas ind?genas y no-ind?genas procedentes de ambas regiones, para tipificar 6 haplogrupos del ADN mitocondrial (mDNA), 17 del cromosoma Y (NRY) y 100 SNPs autos?micos (AIMs) con el fin de estimar las proporciones de ancestr?a gen?tica. Los indigenas del Tolima Nasa y Pijao fueron predominatemente de origen amerindio (AIMs: 91%, mDNA: 96%, NRY: 71%), mientras que los individuos mezclados no nativos presentaron principalmente un origen paterno europeo (NRY) del 70%, materno amerindio (mDNA) del 93%, y proporciones de ancestr?a autos?mica europea del 49% y amerindia del 45% en promedio (origen biparental). Por otra parte, los ind?genas Embera de C?rdoba presentaron proporciones similares a los del Tolima (origen principalmente uniparental), en tanto que los Zenu mostraron proporciones similares con los individuos mezclados de la misma regi?n: ancestr?a europea (AIMs: 42%, NRY: 67%), amerindia (AIMs: 35%, NRY: 10%, mDNA: 60%) and africana (AIMs: 23%, NRY: 24%, mDNA: 13%) (triparental). Los resultados sugieren que la muestra poblacional global est? gen?ticamente estructurada, lo cual puede deberse a diferencias locales en la historia demogr?fica como la influencia africana mayor en algunas poblaci?nes de C?rdoba, entre otros eventos socioculturales recientes.ABSTRACT. Modern human Colombian populations possess a complex genetic structure becuase of the admixture between Amerinds, Europeans and Africans, occurred in different proportions across regions of the country. We developed a genetic study aimed to characterize Amerindian, European and African ancestry in a Colombian Andean population (Tolima), which was compared with another one located at the Caribbean coast region (C?rdoba). Genetic data were obtained from indigenous and admixed individuals DNA samples, typed for 6 mitochondrial (mDNA) and 16 Y chromosome non-recombinant region (NRY) continental lineages and 100 autosomal ancestry informative markers (AIMs) to estimate genetic ancestry and the significance was evaluated by non-parametric test. In the region of Tolima, Nasa and Pijao indigenous were predominantly of Native American origin 91% (AIMs), 96% (mDNA) y 71% (NRY), whereas admixed populations were paternally and maternally respectively: 70% of European origin and 93 % Amerindian, and for the autosomal markers: 49% European and 45% Amerindian and African ancestry were <5%. On the other hand, Embera indigenous population from the Caribbean coast presented similar proportions to Tolima?s Amerinds, while Zenu indigenous were similar to admixed individual from the same region, who shown European (AIMs: 42%, NRY: 67%), Amerind (AIMs: 35%, NRY: 10%, mDNA: 60%) and African ancestry (AIMs: 23%, NRY: 24%, mDNA: 13%). The results suggest that the whole sample is genetically structured, in this way the last two subpopulations have a triparental origin, while Tolima?s admixed individuals are biparental, which could be related to differences in local demographic histories, such a higher African influence at Caribbean among other recent sociocultural events.INTRODUCCI?N 19 1. PLANTEAMIENTO DEL PROBLEMA 21 2. JUSTIFICACI?N 22 3. OBJETIVOS 23 3.1 OBJETIVO GENERAL 23 3.2 OBJETIVOS ESPEC?FICOS 23 4. HIP?TESIS 24 5. MARCO TE?RICO Y ANTECEDENTES 25 5.1 GEN?TICA MOLECULAR Y EL ESTUDIO DE LAS POBLACIONES HUMANAS 25 5.1.1 Estudios gen?micos amplios 25 5.1.2 Patrones globales de diversidad 25 5.1.3 Estructura gen?tica de la poblaci?n humana 26 5.1.4 Estructura gen?tica de las poblaciones latinoamericanas 27 5.1.5 Estructura y diversidad gen?tica de las poblaciones amerindias y mestizas colombianas 31 6. METODOLOG?A 35 6.1 POBLACIONES Y MUESTRAS 35 6.1.1 Permiso ?tico y consentimiento informado 35 6.1.2 Contactos con las poblaciones Ind?genas y mezcladas 35 6.1.3 Recolecci?n de muestras y entrevistas 36 6.1.4 Poblaciones 37 6.2 EXTRACCI?N, CUANTIFICACI?N Y DILUCI?N DEL DNA 40 6.3 MARCADORES GEN?TICOS Y GENOTIPIFICACI?N 40 6.3.1 DNA autos?mico (AIMs) 40 6.3.2 DNA mitocondrial (mDNA) 45 6.3.3 Regi?n no recombinante del cromosoma Y (NRY) 48 6.4 AN?LISIS ESTAD?STICOS 53 7. RESULTADOS 56 7.1 ANCESTR?A MATERNA DE LAS POBLACIONES ANALIZADAS 56 7.1.1 Comparaci?n inter-regional 60 7.1.2 Comparaci?n intra-regional 60 7.1.3 An?lisis de distancias Fst 61 7.2 ANCESTR?A PATERNA DE LAS POBLACIONES ANALIZADAS 64 7.2.1 Comparaciones inter-regionales 66 7.2.2 Comparaciones intra-regional 69 7.2.3 An?lisis de distancias Fst 69 7.3 ANCESTR?A A NIVEL AUTOS?MICO 71 7.3.1 An?lisis de la diversidad gen?tica en los tolimenses 71 7.3.2 Ancestr?a poblacional. 73 7.3.3 Ancestr?a individual 80 8. DISCUSI?N 84 8.1 LAS POBLACIONES DE ESTUDIO 84 8.2 DIVERSIDAD GEN?TICA Y DIFERENCIACI?N POBLACIONAL EN EL TOLIMA Y C?RDOBA 87 8.2.1 Or?gen materno de la diversidad 88 8.2.2 Origen paterno de la diversidad 90 8.2.3 Diversidad autos?mica (AIMs) 91 8.3 OR?GENES ANCESTRALES, MEZCLA Y ESTRUCTURA GEN?TICA DE LAS POBLACIONES ANALIZADAS 93 8.3.1 Linajes maternos y paternos en el Tolima 94 8.3.2 Estructura gen?tica global de las poblaciones analizadas 98 9. CONCLUSIONES 108 10. RECOMENDACIONES 110 REFERENCIAS 111 ANEXOS 12

Mobile Learning Technologies for Education: Benefits and Pending Issues

Today’s world demands more efficient learning models that allow students to play a more active role in their education. Technology is having an impact on how instruction is delivered and how information is found and share. Until very recently, the educational models encouraged memorization as an essential learning skill. These days, technologies have changed the educational model and access to information. Knowledge is available online, mostly free, and easily accessible. Reading, sharing, listening and, doing are currently necessary skills for education. Mobile devices have become a complete set of applications, support, and help for educational organizations. By conducting an analysis of the behavior and use of mobile devices on current students, efficient educational applications can be developed. Although there are several initiatives for the use of mobile learning in education, there are also issues linked to this technology that must be addressed. In this work, we present the results of a literature review of mobile learning; the findings described are the result of the analysis of several articles obtained in three scientific repositories. This work also lists certain issues that, if properly addressed, can avoid possible complications to the implementation of this technology in education.This work was supported by the EduTech project (609785-EPP-1-2019-1-ES-EPPKA2-CBHEJP) co-funded by the Erasmus+ Programme of the European Union

A Hybrid Methodology to Improve Speaking Skills in English Language Learning Using Mobile Applications

The main objective of this research is a working example of how a hybrid methodology combining traditional methodologies and mobile devices can be used to contribute to the literature on mobile learning in teaching English as a second language. This work was carried out because, in many Latin American countries, students are taught English as a second language throughout their primary and secondary education. However, at the end of their studies, most students are unable to communicate with other people in English, let alone with native speakers. Moreover, it must be taken into account that nowadays English is the most widely used language in international communications, business transactions, finance and science. The professional who knows how to communicate in English has a positive differentiator in his or her professional profile and can easily access more relevant positions in any institution. For this purpose, a review of different methodologies for teaching oral expression in English has been carried out. Metrics have also been used to choose an effective mobile application to reinforce English speaking. These analyzed methodologies have been combined with the use of a mobile application to propose a hybrid methodology that contemplates an eight-week class guide. Due to the characteristics of mobile learning, this work can help to motivate students in their learning and in improving their communicative skills in the English language. High school teachers can use this methodology as an innovation in their educational programs.This work was financed by the Universidad de Las Américas through project code: TIC.LCC22.01

Evaluación de los protocolos IGP IPv4 e IPv6 soportados por el IOS de Cisco enfocado a la prestación del servicio IPTV en la ESPOCH.

Se evaluaron los protocolos IGP IPv4 e IPv6 en un prototipo de pruebas con dispositivos CISCO aplicado a la provisión de Televisión sobre Protocolo de Internet (IPTV) en la Escuela Superior Politécnica de Chimborazo. La ESPOCH es una de las principales universidades que aún no ha implementado IPTV, la realización de este estudio es transcendental como factor que define el progreso tecnológico de la institución. El proceso de evaluación se desarrolló en dos escenarios: 1.- Configurado con direccionamiento IPv4 y 2.- Configurado con direccionamiento IPv6. En cada escenario fue establecido y evaluado en primera instancia el servicio de IPTV, luego con el objeto de añadir tráfico a la red es evaluado el servicio TRIPLEPLAY representado por un servidor FTP y Call Manager. Para determinar el protocolo más adecuado, en el proceso de evaluación, se recopilaron datos de las variables que establecen la calidad de servicio de IPTV, estas son: perdida de paquetes, latencia, jitter y MOS. Los resultados permitieron concluir que el protocolo IGP IPv4 más adecuado para la prestación del servicio de IPTV es OSPF, con un valor de MOS de 4.8, pérdida de paquetes de 0.05273%, jitter de 0.0861ms y retardo de 0.1ms. Para el servicio TRIPLEPLAY es el protocolo EIGRP, con un MOS de 4.4, pérdida de paquetes de 0.19098%, jitter de 0.1153ms y retardo de 7.5ms. El protocolo IGP IPv6 más adecuado para el servicio de IPTV es el protocolo EIGRP, con un MOS de 5, pérdida de paquetes de 0.00781%, jitter de 0.002ms y retardo de 5ms. Para el servicio TRIPLEPLAY es el protocolo EIGRP, con un MOS de 4, pérdida de paquetes de 33.56119%, jitter de 1.363ms y retardo de 5ms. Se recomienda este estudio a la institución como base fundamental para la implementación del servicio IPTV en sus instalaciones.IGP IPv4 and IPv6 protocols were evaluated in a prototype test with CISCO devices applied to the provision of television over Internet Protocol (IPTV) at Escuela Superior Politécnica of Chimborazo. ESPOCH is one of the leading universities that has not applied IPTV yet. The development of this study is transcendental as a factor which defines the technological progress of the university. The evaluation process was conducted in two stages: 1. configured with IPv4 addressing and 2. Configured with IPv6 addressing. First, in each scenario IPTV service was established and evaluated. Then, Tripleplay service was evaluated in order to add traffic to the network represented by an FTP server and Call Manager. In order to determine the most appropriate protocol in the evaluation process, data from the variables were collected which establish the IPTV quality of the service like: packet loss, latency, jitter and MOS. The results enabled for the conclusion that the most suitable IPv4 IGP protocol for the service provision of IPTV is OSPF, with a value of: MOS 4.8, packet loss 0.05273%, jitter 0.0861ms and delay 0.1ms. For Tripleplay service is the EIGRP protocol with: MOS 4.4, packet loss 0.19098%, jitter 0.1153ms and delay 7.5ms. IGP IPv6 protocol most suitable for IPTV service is the EIGRP protocol with: MOS 5, packet loss 0.00781%, jitter 0.002ms and delay 5ms. For Tripleplay service is the EIGRP protocol with a MOS of 4, packet loss 33.56119%, jitter 1.363ms and delay 5ms. This study is recommended to the institution as a fundamental basis for the implementation of IPTV service

Mobile Learning as the Key to Higher Education Innovation: A systematic mapping

The study of educational innovations has attracted increasing attention from academics and researchers around the world. Educational innovation proposes the implementation of new approaches or practices that are beneficial and make an impact on individuals or academic communities. The current educational model of many higher education institutions (HEIs) was not designed for this generation of “digital natives”. For this reason, HEIs face the challenge of building teaching strategies that generate meaningful educational experiences. This research seeks to address this issue through a systematic mapping that includes empirical research papers from 2015 to 2020 that study innovations in educational practices using mobile devices. A qualitative and quantitative approach was applied using a four-stage research methodology to evidence innovation in higher education. After employing the selected methodology and applying all the exclusion criteria, 27 papers related to the research topic were identified. Mapping was also performed between the corpus of papers and five dimensions on educational innovation (the purpose of learning, the context of learning, the role of the teacher, the role of the learner, and the evidence of the outcome). The findings reveal that the role of the teacher is the dimension that is least analyzed in innovation initiatives, whereas the most analyzed dimension is the purpose of learning. The goal of this work was to explore and identify educational innovations and unveil uncovered fields of research to generate opportunities for new lines of research in educational innovation

Catch the Thief: An Approach to an Accessible Video Game with Unity

Today, the video game industry is one of the most profitable business markets in the world. Video games are not only being used as a means of entertainment but also to reinforce education. Even though there are unbroken barriers for disabled people to use this kind of applications. Lack of accessible technologies and functions are real problems and a way of discrimination. It is a challenge for every software development organization, even for those who focuses in video game line of work. Many impaired people enjoy playing games in despite of their disabilities; however, some limitations appear when they start to play. This article presents an approach for an accessible video game developing, using Unity Engine and some of its accessibility complements to implement some functions to get better the player experience. This way, people who suffer of visual and hearing disability can be able to play and learn. Within the spectrum of disabilities this project covers are; visual and hearing, multiple variants of color-blindness and reduced vision problems. A series of settings options will have implemented with the final purpose of giving users an easier way to interact with the video game. It should be emphasized that game mechanics are based on various parameters to offer accessibility as brightness reduction, contrast and font-size adjustment, and more. Disability simulation tests will have done in order to prove the video game functionality. This research tries to increase the accessibility for people with impairments in the world of video games

Wearable devices, the next generation of mobile devices: Main features and uses

In a world in which students are exposed to all kinds of digital stimuli, the traditional educational, in which a teacher gives a lesson in front of a class full of students who listen attentively, may not be very motivating. That is why, in addition to offering new pedagogical possibilities, and helping teachers to nurture their students with new skills and competences, technology plays a key role in the classroom when it comes to generating motivation. In that sense, wearable devices can be a powerful ally. For this reason, in this article, we will show a classification of these devices and the analysis of the main parameters of each of them. Several bibliographical sources were used for this work, such as: research documents, technical articles and official websites of the wearable devices investigated. Seven parameters were obtained to analyze by rating scales to optimize the decision of its possible use

Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

Background: TheBRCA1c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluateBRCA1c.3331_3334delCAAG haplotype diversity in cases of European, African, and Latin American ancestry. Methods: BC mutation carrier cases from Colombia (n = 32), Spain (n = 13), Portugal (n = 2), Chile (n = 10), Africa (n = 1), and Brazil (n = 2) were genotyped with the genome-wide single nucleotide polymorphism (SNP) arrays to evaluate haplotype diversity aroundBRCA1c.3331_3334delCAAG. Additional Portuguese (n = 13) and Brazilian (n = 18) BC mutation carriers were genotyped for 15 informative SNPs surroundingBRCA1. Data were phased using SHAPEIT2, and identical by descent regions were determined using BEAGLE and GERMLINE. DMLE+ was used to date the mutation in Colombia and Iberia. Results: The haplotype reconstruction revealed a shared 264.4-kb region among carriers from all six countries. The estimated mutation age was similar to 100 generations in Iberia and that it was introduced to South America early during the European colonization period. Conclusions: Our results suggest that this mutation originated in Iberia and later introduced to Colombia and South America at the time of Spanish colonization during the early 1500s. We also found that the Colombian mutation carriers had higher European ancestry, at the BRCA1 gene harboring chromosome 17, than controls, which further supported the European origin of the mutation. Understanding founder mutations in diverse populations has implications in implementing cost-effective, ancestry-informed screening

Caracterización molecular de la variación genética en cuatro etnias indígenas

167 Páginas. Recurso ElectrónicoLas poblaciones colombianas humanas modernas poseen una estructura genética compleja debido a la mezcla amerindia, europea y africana, ocurrida en diferentes proporciones a lo largo del país. En el Tolima se desarrolló un estudio genético para caracterizar las tres ancestrías mencionadas, comparándolas con otra población localizada en la Costa Caribe (Córdoba). Se obtuvo ADN a partir de muestras de sangre tomadas en personas indígenas y no-indígenas procedentes de ambas regiones, para tipificar 6 haplogrupos del ADN mitocondrial (mDNA), 17 del cromosoma Y (NRY) y 100 SNPs autosómicos (AIMs) con el fin de estimar las proporciones de ancestría genética. Los indigenas del Tolima Nasa y Pijao fueron predominatemente de origen amerindio (AIMs: 91%, mDNA: 96%, NRY: 71%), mientras que los individuos mezclados no nativos presentaron principalmente un origen paterno europeo (NRY) del 70%, materno amerindio (mDNA) del 93%, y proporciones de ancestría autosómica europea del 49% y amerindia del 45% en promedio (origen biparental). Por otra parte, los indígenas Embera de Córdoba presentaron proporciones similares a los del Tolima (origen principalmente uniparental), en tanto que los Zenu mostraron proporciones similares con los individuos mezclados de la misma región: ancestría europea (AIMs: 42%, NRY: 67%), amerindia (AIMs: 35%, NRY: 10%, mDNA: 60%) and africana (AIMs: 23%, NRY: 24%, mDNA: 13%) (triparental). Los resultados sugieren que la muestra poblacional global está genéticamente estructurada, lo cual puede deberse a diferencias locales en la historia demográfica como la influencia africana mayor en algunas poblaciónes de Córdoba, entre otros eventos socioculturales recientes.ABSTRACT. Modern human Colombian populations possess a complex genetic structure becuase of the admixture between Amerinds, Europeans and Africans, occurred in different proportions across regions of the country. We developed a genetic study aimed to characterize Amerindian, European and African ancestry in a Colombian Andean population (Tolima), which was compared with another one located at the Caribbean coast region (Córdoba). Genetic data were obtained from indigenous and admixed individuals DNA samples, typed for 6 mitochondrial (mDNA) and 16 Y chromosome non-recombinant region (NRY) continental lineages and 100 autosomal ancestry informative markers (AIMs) to estimate genetic ancestry and the significance was evaluated by non-parametric test. In the region of Tolima, Nasa and Pijao indigenous were predominantly of Native American origin 91% (AIMs), 96% (mDNA) y 71% (NRY), whereas admixed populations were paternally and maternally respectively: 70% of European origin and 93 % Amerindian, and for the autosomal markers: 49% European and 45% Amerindian and African ancestry were <5%. On the other hand, Embera indigenous population from the Caribbean coast presented similar proportions to Tolima´s Amerinds, while Zenu indigenous were similar to admixed individual from the same region, who shown European (AIMs: 42%, NRY: 67%), Amerind (AIMs: 35%, NRY: 10%, mDNA: 60%) and African ancestry (AIMs: 23%, NRY: 24%, mDNA: 13%). The results suggest that the whole sample is genetically structured, in this way the last two subpopulations have a triparental origin, while Tolima´s admixed individuals are biparental, which could be related to differences in local demographic histories, such a higher African influence at Caribbean among other recent sociocultural events.INTRODUCCIÓN 19 1. PLANTEAMIENTO DEL PROBLEMA 21 2. JUSTIFICACIÓN 22 3. OBJETIVOS 23 3.1 OBJETIVO GENERAL 23 3.2 OBJETIVOS ESPECÍFICOS 23 4. HIPÓTESIS 24 5. MARCO TEÓRICO Y ANTECEDENTES 25 5.1 GENÉTICA MOLECULAR Y EL ESTUDIO DE LAS POBLACIONES HUMANAS 25 5.1.1 Estudios genómicos amplios 25 5.1.2 Patrones globales de diversidad 25 5.1.3 Estructura genética de la población humana 26 5.1.4 Estructura genética de las poblaciones latinoamericanas 27 5.1.5 Estructura y diversidad genética de las poblaciones amerindias y mestizas colombianas 31 6. METODOLOGÍA 35 6.1 POBLACIONES Y MUESTRAS 35 6.1.1 Permiso ético y consentimiento informado 35 6.1.2 Contactos con las poblaciones Indígenas y mezcladas 35 6.1.3 Recolección de muestras y entrevistas 36 6.1.4 Poblaciones 37 6.2 EXTRACCIÓN, CUANTIFICACIÓN Y DILUCIÓN DEL DNA 40 6.3 MARCADORES GENÉTICOS Y GENOTIPIFICACIÓN 40 6.3.1 DNA autosómico (AIMs) 40 6.3.2 DNA mitocondrial (mDNA) 45 6.3.3 Región no recombinante del cromosoma Y (NRY) 48 6.4 ANÁLISIS ESTADÍSTICOS 53 7. RESULTADOS 56 7.1 ANCESTRÍA MATERNA DE LAS POBLACIONES ANALIZADAS 56 7.1.1 Comparación inter-regional 60 7.1.2 Comparación intra-regional 60 7.1.3 Análisis de distancias Fst 61 7.2 ANCESTRÍA PATERNA DE LAS POBLACIONES ANALIZADAS 64 7.2.1 Comparaciones inter-regionales 66 7.2.2 Comparaciones intra-regional 69 7.2.3 Análisis de distancias Fst 69 7.3 ANCESTRÍA A NIVEL AUTOSÓMICO 71 7.3.1 Análisis de la diversidad genética en los tolimenses 71 7.3.2 Ancestría poblacional. 73 7.3.3 Ancestría individual 80 8. DISCUSIÓN 84 8.1 LAS POBLACIONES DE ESTUDIO 84 8.2 DIVERSIDAD GENÉTICA Y DIFERENCIACIÓN POBLACIONAL EN EL TOLIMA Y CÓRDOBA 87 8.2.1 Orígen materno de la diversidad 88 8.2.2 Origen paterno de la diversidad 90 8.2.3 Diversidad autosómica (AIMs) 91 8.3 ORÍGENES ANCESTRALES, MEZCLA Y ESTRUCTURA GENÉTICA DE LAS POBLACIONES ANALIZADAS 93 8.3.1 Linajes maternos y paternos en el Tolima 94 8.3.2 Estructura genética global de las poblaciones analizadas 98 9. CONCLUSIONES 108 10. RECOMENDACIONES 110 REFERENCIAS 111 ANEXOS 12

An Approach to Accessible Serious Games for People with Dyslexia

Dyslexia is a cognitive disorder that affects the evolutionary ability to read, write, and speak in people, affecting the correct learning of a large percentage of the population worldwide. In fact, incorrect learning is caused because the educational system does not take into consideration the accessibility parameters that people with dyslexia need to maintain a sustainable educational level equal to others. Moreover, the use of mobile devices, such as smartphones and tablets, has been deployed in education programs, offering many benefits; however, the lack of accessibility of those devices creates new barriers to students with dyslexia that hinder their education. With the aim of reducing these barriers, this paper presents an approach to the development of accessible serious games games for children with dyslexia. As a case study, a serious game based on a previously proposed serious game development method and a new set of accessibility guidelines for people with dyslexia is presented. The main purpose of the serious video game is to improve the treatment of dyslexia, through the collection of data obtained from two puzzles designed to train certain cognitive areas that affect this disability. This article has a double contribution: on the one hand, the guidelines and the method that can help video game developers and therapists to develop accessible serious games for people with dyslexia and, on the other hand, the two specific serious games that can be used by therapists, family members and people with dyslexia themselves.This work was supported by the EduTech project (609785-EPP-1-2019-1-ES-EPPKA2-CBHE-JP) co-funded by the Erasmus+ Programme of the European Union