Ancient DNA was recovered from 17 individuals found in a rock shelter in the district of "La Purnia" (Santander, Colombia). This region is the homeland of pre-Columbian Guane, whom spread over the "Río Suarez" to the "Río de Oro", and were surrounded to the west by the Central Andes, south and east by foothills of Eastern Andes, and north by the "Chicamocha" river canyon. Guanes established in a region that straddles the Andes and the northern Amazon basin, possibly making it an unavoidable conduit for people moving to and from South America. We amplified mtDNA hypervariable region I (HVI) segments from ancient bone remains, and the resulting sequences were compared with both ancient and modern mitochondrial haplogroups from American and non-American populations. Samples showed a distribution of 35% for haplogroup A, 41% for haplogroup B and 24% for haplogroup D. Nine haplotypes were found in 17 samples, indicating an unusually high genetic diversity on a single site ancient population. Among them, three haplotypes have not been previously found in America, two are shared in Asia, and one is a private haplotype. Despite geographical barriers that eventually isolated them, an important influence of gene flow from neighboring pre-Columbian communities, mainly Muiscas, could explain the high genetic polymorphism of this community before the Spanish conquest, and argues against Guanes as being a genetic isolate.
The Checua site within Nemocón in the eastern Andean Region of Colombia has produced evidence of huntergatherer activities from 9500-8700 cal yr BP. The aim of this work was to analyze genetically the Checua group according to mitochondrial DNA HVR-I sequence data. Following strict criteria of authenticity for studies of ancient DNA, extracted DNA was amplified and sequenced for each of the human remains. Twelve of the 22 human remains from Checua were successfully assessed (54.54%) in this study. Paleo-Colombian Checua revealed the Native American haplogroups A2, B2 and C1, plus the rare haplogroup D4h3a, reported for the first time in ancient Colombia. Comparison between Paleo-American and modern Colombian genetic data demonstrates the continuity of A2, B2, and C1, and a probable discontinuity of D4h3a since prehistoric times in Colombia, if not a shortage of D4h3a records in the literature and/or databases, while D1 is present in modern Colombia. The presence of D4h3a, A2, B2, and C1 haplogroups from Colombian early Holocene burials supports genetic evidence for Paleo-American dispersals downward by the Pacific coast. Our Paleo-Colombian DNA data, along with other genetic, archaeological, and paleoenvironmental published data, allow us to bring forward an Integrated Migration Model for the early peopling of northwestern South America, which involved different movements: (1) North-to-South along the coast; (2) West-to-East across the Andean mountain ranges; (3) Riverine discovery and riverside colonization. © 2016. Acad. Colomb. Cienc. Ex. Fis. Nat. Key words: Checua site, hunter-gatherers occupation, Paleo-DNA, mitochondrial DNA (mtDNA), Cundinamarca, Colombia, Migration waves. El análisis genético de paleo-colombianos de Nemocón, Cundinamarca proporciona revelaciones sobre el poblamiento temprano del Noroeste de Suramérica ResumenEl sitio Checua localizado en Nemocón en la Región de los Andes Orientales Colombianos, ha mostrado evidencia de actividades de cazadores-recolectores desde 9500-8700 cal AP. El objetivo de este trabajo fue analizar genéticamente el grupo Checua mediante datos de secuencia de ADN mitocondrial HVR-I. Siguiendo criterios estrictos de autenticidad para los estudios de ADN antiguo, se extrajo, se amplificó y se secuenció el ADN para cada uno de los restos humanos disponibles. Doce de los 22 restos humanos de Checua se evaluaron con éxito (54,54%) en este trabajo. Los Paleo-Colombianos Checua revelaron los haplogrupos nativos americanos A2, B2 y C1, además del raro haplogrupo D4h3a, reportado por primera vez en Colombia antigua. La comparación de los datos genéticos entre los Paleo-Americanos y Colombia moderna demuestra la continuidad de los haplogrupos A2, B2 y C1, y una probable discontinuidad de D4h3a desde tiempos prehistóricos en Colombia, si no una escasez de registros de D4h3a en la literatura y/o bases de datos, mientras que D1 está presente en Colombia actual. La presencia de los haplogrupos D4h3a, A2, B2, y C1 en entierros Colombianos del Holoceno temprano apoya la evi...
Abbreviations: AFLP: amplified fragment length polymorphism IDEA: Fundación Instituto de Estudios Avanzados (Venezuela) ISTR: inverse sequence tagged repeat NTSYSpc: numerical taxonomy and multivariate analysis system ver. 2.02j POPGENE: population genetic analysis ver. 1.32 RAPD: random amplified polymorphic DNA RFLP: restriction fragment length polymorphism SSRs: simple sequence repeats STRs: short tandem repeats TFPGA: tools for population genetic analyses ver.1.3 UPGMA: unweighted pair group method with arithmetic averages VNTRs: variable number of tandem repeatsCurrently in Colombia, there are only records of morph-agronomic characterizations of Mangifera indica cvar. Hilacha; molecular studies on this mango variety have not been carried out. The aim of this work was to identify the genetic diversity of six populations of mango Hilacha by RAPDs markers, as a fundamental base for breeding programs, conservation and selection of promissory materials for the fruit industry at the national level. From 60 primers evaluated in the *Corresponding author populations, five primers were selected and were launched in the six populations. Polymorphic bands of RAPDs were transformed into binary matrices, which were then processed with NTSYS-PC , POPGENE and TFPGA softwares. The overall genetic diversity, H T = 0.468 + 0.0016, is very similar to the average subpopulation genetic diversity, H S = 0.4431 + 0.0024, which revealed a small genetic differentiation among the mango Hilacha populations studied (G ST = 0.0532).
Objetivo: Este trabajo integra información de la secuencia del ADNmt del norte de Suramérica con Puerto Rico, con el fin de comprender el poblamiento del Caribe, especialmente de los taínos. De paso, arroja información sobre hechos demográficos en la Colombia precolombina.Metodología: Se obtuvieron 59 muestras de Colombia y Venezuela, las cuales fueron analizadas junto a otras dos pertenecientes a los indios warao y disponibles en el Genbank. Se alinearon secuencias HVR-I y II (Hypervariable Region) y se compararon con el rCRS. El 93,4% de las muestras resultaron ser de origen amerindio.Resultados: Un venezolano exhibió mutaciones relacionadas con el linaje antiguo C-II de Puerto Rico, el cual se estima que arribó a Puerto Rico en la era prearahuaca. Mediante secuenciación completa del ADNmt se demostró que esta muestra, VE6, pertenece al clado americano nativo C1b.Dos personas de Colombia y Venezuela presentaban la transición 16129 que define el linaje A-VIII de Puerto Rico. Dicha transición dentro del haplogrupo A también se ha encontrado en los ciboneyes de Cuba y en otras tribus americanas. La deleción de un par de bases –498d– define el linaje B-I de Colombia (Bogotá y Villa de Leyva, Boyacá), un polimorfismo encontrado en los departamentos correspondientes a la cordillera Oriental y que se extiende al Valle del Cauca y a Panamá.Conclusión: Este linaje experimentó una expansión demográfica en la cordillera Oriental que lo llevó a expandirse geográficamente hasta Panamá. Sería recomendable ampliar el muestreo de la costa norte de Colombia y Venezuela, para encontrar más conexiones precolombinas con Puerto Rico. Además, sería conveniente verificar la distribución geográfica de 498d con un muestreo más numeroso y que cubra una zona más amplia de Colombia.
Disease genotype, haplotypes, diagnosis and associated studies in sickle cell anemiaSickle cell anemia is a type of hemoglobinopathy characterized by a specific mutation in the beta globin gene with the consequent generation of an unstable hemoglobin that crystallizes in a state of hypoxia. This causes a change in the structure of the red blood cell, which ends up producing vaso-occlusion with the corresponding clinical complications for the patient. Worldwide, various diagnostic tests have been developed that allow the appropriate approach to the affected patient. These include techniques for the determination of hemoglobin and the use of molecular markers, among others. There are new therapeutic alternatives to the use of hydroxyurea and L-glutamine, such as the use of gene therapy tools. The most recent experimental trials are exploring gene editing techniques.
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