5 research outputs found

    Surnames and Y-Chromosomal markers reveal low relationships in Southern Spain

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    A sample of 416 males from western and eastern Andalusia has been jointly analyzed for surnames and Y-chromosome haplogroups and haplotypes. The observed number of different surnames was 222 (353 when the second surname of the Spanish system of naming is considered). The great majority of recorded surnames have a Castilian-Leonese origin, while Catalan or Basque surnames have not been found. A few Arab-related surnames appear but none discernible of Sephardic-Jewish descent. Low correlation among surnames with different population frequencies and Y-chromosome markers, at different levels of genetic resolution, has been observed in Andalusia. This finding could be explained mainly by the very low rate of monophyletic surnames because of the historical process of surname ascription and the resulting high frequencies of the most common Spanish surnames. The introduction of surnames in Spain during the Middle Ages coincided with Reconquest of the territories under Islamic rule, and Muslims and Jews progressively adopted the present male line surname system. Sampled surnames and Y-chromosome lineages fit well a power-law distribution and observed isonymy is very close to that of the general population. Besides, our data and results show that the reliability of the isonymy method should be questioned because of the high rate of polyphyletic surnames, even in small geographic regions and autochthonous populations. Random isonymy would be consistently dependent of the most common surname frequencies in the population

    Integración de datos ómicos y clínicos: nuevos avances en la frontera entre Biología y Medicina

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    Hoy en día resulta imprescindible el uso de datos biológicos de alta resolución en un ámbito Biomédico. Esta información molecular, expresada en diferentes enfoques ómicos (genómica, transcriptómica, proteómica, metabolómica), explica diferentes parcelas de la variabilidad biológica humana. La integración de capas ómicas es un procedimiento que se viene realizando habitualmente mediante protocolos diversos. Sin embargo, la conjunción de información de alta resolución molecular con datos no-ómicos resulta más problemática. En este trabajo se pretende realizar un análisis sistemático de las metodologías enfocadas hoy en día a la integración de capas ómicas con la correspondiente información clínica, epidemiológica o demográfica de los pacientes. Este proceso se lleva a cabo mediante el uso de aproximaciones bioestadísticas alternativas (métodos multivariantes, de regresión o de redes de similaridad) que son evaluadas en términos de su rendimiento. En cuanto al set de datos empleado, hemos escogido un proyecto de The Cancer Genome Atlas (TCGA) compuesto por alrededor de 180 muestras analizadas para varias capas ómicas y con una rica información clínica disponible. En concreto, nos hemos centrado en las vertientes de expresión génica (transcriptómica) y metilación (epigenómica). Nuestros resultados muestran una elevada heterogeneidad entre los diferentes métodos empleados, en términos del procedimiento de integración, de selección de variables (genes/variables clínicas) y de explotación de los datos. La naturaleza y comportamiento de la variable respuesta escogida ha podido afectar a los resultados obtenidos en nuestro estudio. Posteriores estudios, basados en diferentes datasets o en variables respuesta alternativas, podrían conseguir la construcción de modelos predictivos más robustos

    Historia evolutiva de la población andaluza basada en su herencia materna y su relación con el poblamiento humano del espacio mediterráneo

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    Tesis inédita de la Universidad Complutense de Madrid, Facultad de Ciencias Biológicas, Departamento de Zoología y Antropología Física, leída el 11-12-2015Depto. de Biodiversidad, Ecología y EvoluciónFac. de Ciencias BiológicasTRUEunpu

    The Andalusian population from Huelva reveals a high diversification of Y-DNA paternal lineages from haplogroup E: Identifying human male movements within the Mediterranean space

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    This research was supported by grants from the Spanish Ministry of Education and Science (Investigation Projects BOS2002-01677 and CGL2006-04749/BOS) awarded to RC and from the Italian Ministero dell’Istruzione, dell’Università e della Ricerca (MIUR-PRIN 2007) awarded to AN.Background: Gene flow among human populations is generally interpreted in terms of complex patterns, with the observed gene frequencies being the consequence of the entire genetic and demographic histories of the population. Aims: This study performs a high-resolution analysis of the Y-chromosome haplogroup E in Western Andalusians (Huelva province). The genetic information presented here provides new insights into migration processes that took place throughout the Mediterranean space and tries to evaluate its impact on the current genetic composition of the most southwestern population of Spain. Subjects and methods: 167 unrelated males were previously typed for the presence/absence of the Y-chromosome Alu polymorphism (YAP). The group of YAP (+) Andalusians was genotyped for 16 Y-SNPs and also characterized for 16 Y-STR loci. Results: The distribution of E-M81 haplogroup, a Berber marker, was found at a frequency of 3% in our sample. The distribution of M81 frequencies in Iberia seems to be not concordant with the regions where Islamic rule was most intense and long-lasting. The study also showed that most of M78 derived allele (6.6%) led to the V13* subhaplogroup. We also found the most basal and rare paragroup M78* and others with V12 and V65 mutations. The lineage defined by M34 mutation, which is quite frequent in Jews, was detected as well. Conclusions: The haplogroup E among Western Andalusians revealed a complex admixture of genetic markers from the Mediterranean space, with interesting signatures of populations from the Middle East and the Balkan Peninsula and a surprisingly low influence by Berber populations compared to other areas of the Iberian Peninsula.Ministerio de Educación y CienciaDepto. de Biodiversidad, Ecología y EvoluciónFac. de Ciencias BiológicasTRUEpu
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