Sample records for CROMOSOMA HUMANO 3 (human chromosome 3)
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1

Glucosa-6-fosfato deshidrogenasa (G6PD): Respuesta de los hematíes y otras células humanas a la disminución en su actividad/ Glucose-6-phosphate dehydrogenase (G6PD): Response of the human erythrocyte and another cells to the decrease in their activity

Bonilla, Javier Fernando; Sánchez, Magda Carolina; Chuaire, Lilian
2007-03-01

Resumen en español La glucosa-6-fosfato deshidrogenasa (G6PD) es la primera enzima de la vía pentosa fosfato y la principal fuente intracelular de nicotidamina adenina dinucleótido fosfato reducido (NADPH), compuesto comprometido en diversos procesos fisiológicos,por ejemplo defensa antioxidante (sobre todo células como los eritrocitos), modulación del crecimiento endotelial, eritropoyesis, vascularización y fagocitosis. La deficiencia de G6PD es la enzimopatía ligada al cromosoma X (mas) más común en el ser humano. Si bien se puede presentar en cualquier tipo de célula, su carencia absoluta es incompatible con la vida. Según la OMS, en el mundo hay más de 400 millones de personas afectadas por la deficiencia de la enzima, y paraColombia calculan una prevalencia de la deficiencia severa entre 3% y 7%, pero no se conocen los datos relativos a las alteraciones leves y moderadas, que también tienen efectos clínicos. El presente artículo revisa los aspectos biomoleculares más importantes de la enzima, su clasificación de acuerdo con la actividad y la movilidad electroforética,y también se mencionan algunos aspectos clínicos relacionados con la alteración de su actividad. Resumen en inglés Glucose-6-phosphate dehydrogenase is the first enzyme in the pentose phosphate pathway and the main intracellular source of reduced nicotidamineadenine nucleotidephosphate (NADPH), involved in diverse physiological processes such as antioxidant defense, (for instance in the erythrocyte) endothelial growth modulation, erithropoyesis, vascularization and phagocitosis. G6PDH deficiency is the most common X-chromosome-linked enzymopathy in human beings. Although it is present (mas) in any type cell, its absolute deficiency is incompatible with life. According to WHO, 400 million people are affected by G6PD deficiency in the world but in Colombia, the severe form prevalence is about 3% to 7%. There are no data related to slight and moderate alterations, that also have clinical effects. This paper reviews some G6PD biomolecular aspects, its classification according to activity and electrophoretic mobility, as well assome main clinical aspects related to its activity alteration.

Scientific Electronic Library Online (Spanish)

2

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Madrigal, I.; Rodríguez-Revenga, L.; Armengol, L.; González, E.; Rodríguez, B.; Badenas, C.; Sánchez, A.; Martínez, F.; Guitart, M.; Fernández Carvajal, M.ª Isabel; Arranz, J. A.; Tejada, M. I.; Pérez-Jurado, L. A.; Estivill, Xavier; Milà, M.
2007-11-29

Digital.CSIC (Spain)

3

The role of the CAG repeat polymorphism in the androgen receptor gene and of skewed X-chromosome inactivation, in the pathogenesis of hirsutism

Calvo, Rosa M.; Asunción, Miryam; Sancho, José; San Millán, José L.; Escobar-Morreale, Héctor F.
2000-04-01

Digital.CSIC (Spain)

4

The aryl hydrocarbon receptor repressor

Zudaire, Enrique; Cuesta, Natalia; Murty, Vundavalli; Woodson, Karen; Adams, Lisa; Gonzalez, Nieves; Martínez, Alfredo; Narayan, Gopeshwar; Kirsch, Ilan; Franklin, Wilbur; Hirsch, Fred; Birrer, Michael; Cuttitta, Frank
2008-02-01

Digital.CSIC (Spain)

5

The SIDER2 elements, interspersed repeated sequences that populate the Leishmania genomes, constitute subfamilies showing chromosomal proximity relationship

Requena Rolanía, José María; Folgueira Fernández, Cristina; López López, Manuel Carlos; Thomas, María del Carmen
2008-06-02

Digital.CSIC (Spain)

6

Similarity in Recombination Rate Estimates Highly Correlates with Genetic Differentiation in Humans

Laayouni, Hafid; Montanucci, Ludovica; Sikora, Martin; Melé, Marta; Dall'Olio, Giovanni Marco; Lorente-Galdos, Belén; McGee, Kate M.; Graffelman, Jan; Awadalla, Philip; Bosch, Elena; Comas, David; Navarro, Arcadi; Calafell, Francesc; Casals, Ferran; Bertranpetit, Jaume
2011-03-01

Digital.CSIC (Spain)

7

Multiple Models for Rosaceae Genomics

Shulaev, Vladimir; Korban, Schuyler S.; Sosinski, Bryon; Abbott, Albert G.; Aldwinckle, Herb S.; Folta, Kevin M.; Iezzoni, Amy; Main, Dorrie; Arús, Pere; Dandekar, Abhaya M.; Lewers, Kim; Brown, Susan K.; Davis, Thomas M.; Gardiner, Susan E.; Potter, Daniel; Veilleux, Richard E.
2008-05-16

Digital.CSIC (Spain)

9

Modelos animales: desarrollo de la línea de ratones congénicos BALB/c.Cg-Ctsl nkt

Maschi, Fabricio; Ayala, Miguel; Benavides, Fernando; Carbone, Cecilia
2008-12-01

Resumen en español En los últimos 40 años, el desarrollo de modelos murinos ha posibilitado realizar avances trascendentes en el estudio y terapéutica de muchas enfermedades humanas y animales. Por otro lado, el empleo de retrocruzas ha permitido crear animales congénicos, resultado de transferir una mutación a otro fondo genético (otra cepa de ratones). La mutación espontánea recesiva nackt (símbolo nkt) fue descubierta en el año 1981 y se caracteriza por ratones parcialmente inm (mas) unodeficientes (el desarrollo de los linfocitos T CD4 se encuentra alterado), que además presentan defectos en el crecimiento del pelo y prurito crónico. El gen afectado fue inicialmente localizado en el cromosoma 13 del ratón y luego identificado como un alelo nulo de la catepsina L (nomenclatura: Ctsl nkt). El objetivo de este trabajo fue desarrollar la línea congénica BALB/c-nkt, introduciendo esta mutación en la línea consanguínea BALB/c. Se recibió un grupo de ratones BALB/c;129S2 parcialmente congénicos (N3) para la mutación nackt, y se continuó con la producción de esta cepa congénica hasta la generación N10, utilizando retrocruzas seguidas de intercruza y selección de ratones mutantes. Esta cepa congénica completa (del inglés full congenic) en fondo BALB/c (denominada BALB/c.Cg-Ctsl nkt) incorporó una porción pequeña del cromosoma donante portando la mutación nackt. Esta cepa congénica, actualmente disponible en nuestro país, representa una importante herramienta para estudios de inmunología, como modelo animal en estudios de dermatología y un modelo knock-out espontáneo para el gen de la catepsina L. Resumen en inglés In the last 40 years, the development of murine models has made possible remarkable achievements in the study and the therapeutic of many human and animal diseases. On the other hand, the use of backcross programs has allowed the development of congenic strains of rodents, that is the introgression of a mutation onto a recipient genetic background. The spontaneous nackt mutation (nkt) is characterized by impaired CD4 T-cell development and generalized alopecia, due to abn (mas) ormal epidermal differentiation and hair follicle cycling. The introgression of this locus onto BALB/c, one of the most widely used mouse inbred strains, made possible the development of a new murine model. The objective of this work was to develop a full congenic BALB/c-nkt (nomenclature: BALB/c.Cg-Ctsl nkt) through repeated backcross-intercross rounds. The development of this congenic strain was continued until the N10 generation, where the introgressed segment of the donor chromosome carrying the mutation is supposed to be very small. This congenic strain, available in our country, represents an important tool for immunology and dermatological studies and represents a spontaneous knock-out animal model for the cathepsin L gene.

Scientific Electronic Library Online (Spanish)

10

La variación genética de MSX1 presenta un dimorfismo sexual en la fisura labiopalatina no sindrómica en la población chilena/ Genetic variation of MSX1 has a sexual dimorphism in non syndromic cleft palate in the Chilean population

Blanco C, Rafael; Jara S, Lilian; Villaseca G, Cecilia; Palomino Z, Hernán; Carreño Z, Hernán
1998-07-01

Resumen en inglés Background: Recent studies in mice have demonstrated that the Msx-1 homebox gene is implicated in cleft palate. Thus, it has been suggested that its human homologue, MSX1 (HOX-7), located in chromosome 4 could be involved in the etiology of non syndromic cleft lip palate. Aim: To study the linkage between non syndromic cleft palate and variations of MSX1 gene. Patients and methods: Seventy three patients with non syndromic cleft lip palate (34 simplex and 37 multiplex), 1 (mas) 27 unaffected relatives of the cases (61 relatives of simplex cases and 66 relatives of multiplex cases) and 77 controls were studied. DNA was extracted from leukocytes and the intragenic microsatellite sequence was amplified by PCR. Results: A polymorphism of four alleles was observed, 1 (175 bp), 2 (173 bp), 3 (171 bp) and 4 (169 bp). Alleles 2 and 4 showed a joint variation in males with multiplex cleft lip palate and in their respective unaffected male relatives, that was significant when compared with male controls. Instead, the joint variation of alleles 1 and 4 of unaffected female relatives had significant differences with female controls. Females with multiplex cleft lip palate differed from female controls only in allele 1. Conclusions: These results support the hypothesis of a genetic heterogeneity in the etiology of non syndromic cleft lip palate

Scientific Electronic Library Online (Spanish)

11

La epigenética y los estudios en gemelos en el campo de la psiquiatría/ Epigenetics and twin studies in psychiatric domains

González Ramírez, Adriana Estrella; Díaz Martínez, Alejandro; Díaz-Anzaldúa, Adriana
2008-06-01

Resumen en español La secuencia de ADN genómico que caracteriza a nuestra especie constituye la piedra fundamental de la vida humana; parte de ella se refleja en la secuencia del ARN y a través de éste se dicta la información necesaria para que nuestras células produzcan proteínas. La genética contribuye de manera importante a los avances en el campo médico. Los descubrimientos genéticos han permitido desarrollar estrategias para modificar, prevenir y proponer nuevas terapias para (mas) diversas enfermedades. En el siglo XIX, Gregor Johann Mendel desarrolló un modelo teórico capaz de predecir la naturaleza y propiedades de los mecanismos de la herencia, que sigue siendo indispensable para explicar la base de la herencia humana. Otro suceso determinante en la historia de la Medicina se dio a conocer casi nueve décadas después cuando James Watson y Francis Crick describieron su modelo estructural para el ADN. Posteriormente se introdujeron la clonación posicional y la reacción en cadena de la polimerasa; más recientemente se publicó cerca del 99% de la secuencia del genoma humano. El período actual se conoce como la era post-genómica, ya que además de descifrar genomas completos, los investigadores pretenden, entre otras cosas, esclarecer los mecanismos que influyen en la activación e inactivación de los genes, lo cual en parte involucra un nivel epigenético. En las ciencias médicas los gemelos constituyen un grupo idóneo para abordar el estudio de las enfermedades hereditarias. En este tipo de padecimientos suelen observarse similitudes entre parientes, en especial si se trata de gemelos monocigóticos. Sin embargo, aun en este tipo de hermanos se detectan diferencias importantes. Parámetros como los grados de concordancia y porcentajes de heredabilidad han puesto de manifiesto que un gemelo monocigótico puede presentar trastornos hereditarios que su co-gemelo nunca tendrá. La epigenética es el estudio de los cambios en la función de los genes que no afectan la secuencia del ADN, por modificaciones que tienen lugar principalmente en las citosinas de éste y en las histonas de la cromatina. Se ha determinado que las modificaciones epigenéticas son mucho más frecuentes que aquellas que modifican la secuencia del ADN, por lo que constituyen uno de los fundamentos de la diversidad biológica, muestran la manera en que el ambiente puede modular la expresión genética y contribuyen así a nuestro fenotipo. Esta revisión reúne datos sobre la posible relevancia de la epigenética en el estudio de los trastornos mentales y como posible explicación parcial de las diferencias observadas entre gemelos >. Un conocimiento más profundo de los patrones epigenéticos podría contribuir a identificar factores de riesgo para estos trastornos. Resumen en inglés The sequence of the human genome integrates the keystone of our life. Part of it is transcribed to RNA, which in turn provides the information required by our cells to produce proteins. Discoveries in the genetics field have been essential to medicine and have been used to develop strategies to modify, prevent and propose new therapeutic approaches for human diseases. In the 19th Century, Gregor Johann Mendel developed a theoretical model which was able to predict in an a (mas) ccurate way hereditary mechanisms; indeed, his laws still explain the basis of human inheritance. Almost ninety years later, James Watson and Francis Crick announced their double-helix model of the DNA molecule. Then, positional cloning and the polymerase chain reaction (PCR) were introduced; more recently, almost 99% of the sequence of our genome was made public. The current period of time is known as the post-genomic era, due to the fact that researchers are not only obtaining the complete sequences of thousands of genomes, but are also searching for clues that may help understand the mechanisms that affect gene activation and deactivation, in which epigenetic factors are also involved. In medical domains, twins constitute a suitable group to study inherited disorders. Dizygotic or fraternal twins are produced by different egg and sperm cells, and even when these two fertilization events occur simultaneously, dizygotic twins share approximately the same percentage of genetic material than any pair of siblings, that is, around 50%. Some authors have suggested that the tendency for spontaneous dizygotic twinning could be attributed to a double ovulation which is genetically determined in an autosomal dominant manner. Monozygotic, as opposed to dizygotic twins, are produced by a single zygote whose cells are dissociated and originate two independent organisms; approximately a third of monozygotic twins are separated before the 5th day after fertilization, and the rest between the 5th and the 15th day. Most monozygotic twins are very similar; nevertheless, some few exceptions prove that in fact they actually do not have to be identical. Relatives of a person with a mental disorder tend to share traits associated with this disease, especially if the patient and the relative are monozygotic twins. However, important differences may be detected even between each pair of identical twins. Parameters such as concordance and heritability have shown that a monozygotic twin can develop an inherited disorder while his or her co-twin will always be disease-free. In addition to differences in susceptibility to inherited diseases, this kind of twins can display dissimilarities in somatic cell mutations (more overtly noticeable when ageing), their set of antibodies and T cell receptors, their number of mitochondrial DNA molecules, and chromosome X inactivation patterns in women, all of which are the main subject of many ongoing studies. A recent report shows that from 160 monozygotic twin pairs who were 3 to 74 years old, epigenetic patterns were identical early in life, but differences were more obvious at older ages, especially if twins were raised apart or if they had different medical history. Medical conditions, but also environmental factors such as pregnancy tobacco exposure, physical activity, and diet could contribute to differences in epigenetic patterns. It has been shown that epigenetic modifications (or epi-mutations) are more frequent than the ones that modify DNA sequence, so they are part of the fundamental causes of biological diversity, and they show how environment can modulate gene expression and contribute to our phenotype. Even when twin studies are sometimes considered purely genetic, they also give information about the influence of environmental factors. However, it is important to consider with caution the results from this type of studies. Heritability estimates are not unchangeable facts. They depend on the sample being analyzed, the genes involved in the specific sample, the characteristics of the environmental factors which members of this group were exposed to, and the precise moment the study was done. Epigenetics refers to changes that do not alter the DNA sequence but affect gene function due to chemical modifications which mainly occur in DNA cytosines and in chromatin-related histones. Epigenetic processes are covalent modifications which include the addition of functional groups (methyl, acetyl, phosphate, etc.) or proteins (ubiquitin, SUMO, etc.) to the DNA molecule or to associated proteins. These modifications contribute to the activation or inhibition of transcription, which leads to changes in messenger ARN expression that can ultimately influence the onset of disease. Pseudogenes are still being excluded while new genes are being confirmed in our genome sequence, but the current estimates indicate that each one of our nucleated cells contains almost 22000 genes (excluding mitochondrial DNA) which encode for polypeptides and more than 4,000 whose final product is RNA. Gene expression is partially controlled by DNA coiling around globular proteins called histones, which constitute a structure known as chromatin, a DNA-protein complex that represents the packaging of 3.25 billion base pairs of our genetic information. Physical and chemical chromatin modifications can also affect gene expression by changing DNA-protein interactions; in general terms, genes are inhibited when chromatin is packed and they are active when it is free. These dynamic states are controlled by epigenetic reversible modifications on DNA methylation or by changes in histones. It has been shown that subtle epigenetic differences between any two human beings are associated with dissimilar final chromatin remodeling, as well as expression/repression of genes.

Scientific Electronic Library Online (Spanish)

12

Increased LIS1 expression affects human and mouse brain development

Bi, Weimin; Sapir, Tamar; Shchelochkov, Oleg A.; Zhang, Feng; Withers, Marjorie A.; Hunter, Jill V.; Levy, Talia; Shinder, Vera; Peiffer, Daniel A.; Gunderson, Kevin L.; Nezarati, Marjan M.; Shotts, Vern Ann; Amato, Stephen S.; Savage, Sarah K.; Harris, David J.; Day-Salvatore, Debra-Lynn; Horner, Michele; Lu, Xin-Yan; Sahoo, Trilochan; Yanagawa, Yuchio; Beaudet, Arthur L.; Cheung, Sau Wai; Martínez, Salvador; Lupski, James R.; Reiner, Orly
2009-01-11

Digital.CSIC (Spain)

13

Genomic organization, chromosomal localization, alternative splicing,and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes

Lazo, Pedro A.; Nadal, Marga; Ferrer, Milagros; Area, Estela; Hernández-Torres, Javier; Nabokina, S. M.; Mollinedo, Faustino; Estivill, Xavier
2001-03-06

Digital.CSIC (Spain)

14

Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

Kouwenhoven, Evelyn N.; Van Heeringen, Simon J.; Tena, Juan J.; Oti, Martin; Dutilh, Bas E.; Alonso, M. Eva; Calle-Mustienes, Elisa de la; Smeenk, Leonie; Rinne, Tuula; Parsaulian, Lilian; Bolat, Emine; Jurgelenaite, Rasa; Huynen, Martijn A.; Hoischen, Alexander; Veltman, Joris A.; Brunner, Han G.; Roscioli, Tony; Oates, Emily; Wilson, Meredith; Manzanares, Miguel; Gómez Skarmeta, José Luis; Stunnenberg, Hendrik G.; Lohrum, Marion; Van Bokhoven, Hans; Zhou, Huiqing
2010-08-01

Digital.CSIC (Spain)

15

FUS-DDIT3 prevents the development of adipocytic precursors in liposarcoma by repressing PPARgamma and C/EBPalpha and activating eIF4E.

Pérez-Mancera, P. A.; Bermejo-Rodríguez, C.; Sánchez-Martín, M.; Abollo-Jiménez, F.; Pintado, B.; Sánchez-García, I.
2008-01-01

Digital.CSIC (Spain)

16

Evolutionary structural and functional conservation of an ortholog of the GLUT2 glucose transporter gene (SLC2A2) in zebrafish

Castillo, Juan; Crespo, Diego; Capilla, Encarnación; Díaz, Mònica; Chauvigné, François; Cerdà, Joan; Planas, Josep V.
2009-09-23

Digital.CSIC (Spain)

17

Evaluación del efecto genotóxico del Antracol WP 70 en cultivos de linfocitos humanos/ Antracol WP 70 genotoxicity in human lymphocyte cultures

Barrera, Carlos Hernán; Pardo, Liz Carolina; Cortina, Germán David
2008-06-01

Resumen en español Introducción: El Antracol WP 70 es un plaguicida de uso común en la agricultura para mitigar fitopatologías asociadas con hongos. Dado su gran espectro de aplicación e incorrecta manipulación, no se encontraron estudios de genotoxicidad, realizados en humanos, acerca de este compuesto. Objetivo: Evaluar, a partir de la prueba de aberraciones cromosómicas estructurales (ACE), el efecto genotóxico del Antracol WP 70 en cultivos de linfocitos humanos de sangre perifé (mas) rica. Materiales y métodos: Se establecieron con réplica, cultivos de linfocitos humanos en medio RPMI 1640 complementado, e incubaron a 37° C. Estos cultivos se trataron con agua destilada estéril (control), concentración alta del plaguicida (2.5 mg/ml), media (1.25 mg/ml) y baja (0.02 mg/ml), durante un período de 48 horas. Se evaluaron las células en metafase, se registraron las ACE observadas y se analizaron los datos para calcular los respectivos valores estadísticos. Resultados: El mayor número de aberraciones cromosómicas se encontró en las células tratadas con la concentración media y el menor fue para el grupo control. Sin embargo, no se encontraron diferencias estadísticamente significativas a un nivel de confianza de 95% entre la frecuencia de aberraciones cromosómicas en relación con el grupo control (p = 0.63). Los porcentajes entre aberraciones de tipo cromatídico y cromosómico encontradas fueron 77.3 y 22.7%. De la misma manera, no se encontraron diferencias estadísticamente significativas. Conclusión: No se informa daño genotóxico, medido a través de la prueba ACE in vitro del Antracol WP 70 en cultivos de linfocitos humanos. Se recomienda continuar con estudios de toxicología genética y citogenética en Boyacá para resolver dudas acerca de los efectos mutagénicos, carcinogénicos y teratogénicos de los diferentes compuestos físicos, químicos y biológicos en los seres vivos. Resumen en inglés Introduction: Antracol WP 70 is a pesticide of common use in farming activities to mitigate pathologies in plants associated to mushrooms. In spite of its great application spectrum and incorrect manipulation, there were no genotoxicity studies found, carried out on human beings regarding this compound. Aim: To evaluate, by means of structural chromosomal aberration test (SCA), the genotoxicity effect of Antracol WP 70 in human lymphocyte cultures of peripheral blood. Mat (mas) erials and methods: Human lymphocyte cultures were established in RPMI 1640 supplemented Medium and incubated at 37° C. The cultures were treated with sterile distilled water (control), high concentration of the pesticide (2.5 mg/ml), half (1.25 mg/ml) and low (0.02 mg/ml), during a 48 hours period. The metaphase cells were evaluated and the SCA observed were registered and analyzed to estimate the respective statistical values. Results: The biggest number of SCA was found in cells tried with the half concentration and the lowest one was for the group control. However, there were no statistically significant differences found at a confidence interval of 95% in the SCA frequency in relation with the group control (p = 0.63). The percentages of chromatid and chromosome aberrations were 77.3 and 22.7%, respectively. There were no statistically significant differences found. Conclusion: Damage genototoxic, measured through the SCA test in vitro of the Antracol WP 70 in human lymphocyte cultures, is not reported. To continue with genetic toxicology and cytogenetic studies in Boyacá Department (State) to solve doubts about the mutagenic, carcinogenic and teratogenics effects of the different physical, chemical and biological compounds in the living beings is recommended.

Scientific Electronic Library Online (Spanish)

18

Effect of Transgene Concentration, Flanking Matrix Attachment Regions, and RecA-Coating on the Efficiency of Mouse Transgenesis Mediated by Intracytoplasmic Sperm Injection

Moreira, Pedro N.; Pérez-Crespo, Miriam; Ramírez, Miguel Ángel; Pozueta, Julio; Montoliu, Lluís; Gutiérrez-Adán, Alfonso
2006-10-11

Digital.CSIC (Spain)

19

Duplications in the 17p13.3 Miller-Dieker syndrome region: Increased expression of LIS1 affects human and mouse brain development

Bi, Weimin; Sapir, Tamar; Shchelochkov, Oleg A.; Zhang, Feng; Withers, Marjorie A.; Hunter, Jill V.; Levy, Talia; Shinder, Vera; Peiffer, Daniel A.; Gunderson, Kevin L.; Lu, Xin-Yan; Sahoo, Trilochan; Yanagawa, Yuchio; Beaudet, Arthur L.; Cheung, Sau Wai; Martínez, Salvador; Lupski, James R.; Reiner, Orly
2008-11-01

Digital.CSIC (Spain)

21

Dido gene expression alterations are implicated in the induction of hematological myeloid neoplasms

Fütterer, Agnes; Campanero, Miguel R.; Leonardo, Esther; Criado, Luis M.; Flores, Juana María; Hernández, Jesús M.; San Miguel, Jesús F.; Martínez-Alonso, Carlos
2005-09-01

Digital.CSIC (Spain)

22

Cohesin Is Dispensable for Centromere Cohesion in Human Cells

Díaz-Martínez, Laura A.; Giménez-Abián, Juan F.; Clarke, Duncan J.
2007-03-28

Digital.CSIC (Spain)

23

Alteraciones cromosómicas en linfocitos humanos inducidas por rayos X

Bellorín-Fernández, Monika; Fernández-D´Pool, Janice
2002-09-01

Resumen en español Con el propósito de determinar y caracterizar alteraciones cromosómicas inducidas por rayos X en linfocitos humanos, se llevó a cabo un estudio de tipo experimental con autocontrol en 4 donantes sanos (2 masculinos y 2 femeninos). Se extrajo sangre venosa periférica, dividiéndose en 6 alicuotas, 5 de ellas fueron irradiadas a dosis de 0,5, 1, 2, 3 y 4 Gy empleando un acelerador lineal, se dejó una alicuota como control para cada donante. El análisis cromosómico se (mas) realizó mediante la técnica de Bandas G. Se observó que, a medida que aumentó la dosis de irradiación, se elevó el número de metafases anormales y la frecuencia de alteraciones cromosómicas. La mayoría de las alteraciones cromosómicas fueron de tipo estructural donde destacaron las traslocaciones, sitios frágiles y deleciones. Se obtuvo diferencia significativa entre los grupos expuestos y no expuestos a radiación con respecto a la dosis de irradiación y aparición de alteraciones cromosómicas (p Resumen en inglés With the aim of determine and characterize chromosomal alterations in human lymphocytes induced by x-rays, an experimental study was performed with auto-control in four healthy donors (two males and two females). Peripheral blood was drawn, and divided in six aliquots: five of them were irradiated with 0.5, 1, 2, 3 and 4 Gy using a linear accelerator and one aliquot was used as control for each donor. The chromosomal analysis was carried out with the "G banding technique" (mas) . It was observed that as the irradiation doses were raised, the abnormal metaphases and frequency of chromosomal alterations increased as well. The majority of chromosomal alterations were of the structural type, of which the most relevant ones were traslocations, fragile sites and deletions. A significant difference was observed between the exposed and non-exposed groups with regard to the irradiation doses and the apparition of chromosomal alterations (p

Scientific Electronic Library Online (Spanish)

24

Allelic Variation at the 8q23.3 Colorectal Cancer Risk Locus Functions as a Cis-Acting Regulator of EIF3H

Pittman, Alan M.; Naranjo, Silvia; Jalava, Sanni E.; Twiss, Philip; Ma, Yussanne; Olver, Bianca; Lloyd, Amy; Vijayakrishnan, Jayaram; Qureshi, Mobshra; Broderick, Peter; Van Wezel, Tom; Morreau, Hans; Tuupanen, Sari; Aaltonen, Lauri A.; Alonso, M. Eva; Manzanares, Miguel; Gavilán, Angela; Visakorpi, Tapio; Gómez Skarmeta, José Luis; Houlston, Richard S.
2010-09-01

Digital.CSIC (Spain)

25

Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26

Pujana, Miguel Ángel; Nadal, Marga; Gratacòs, Mònica; Peral, Belén; Csiszar, Katalin; González-Sarmiento, Rogelio; Sumoy, Lauro; Estivill, Xavier
2001-01-01

Digital.CSIC (Spain)

26

A burst of segmental duplications in the genome of the African great ape ancestor

Marqués-Bonet, Tomàs; Kidd, Jeffrey M.; Ventura, Mario; Graves, Tina A.; Cheng, Ze; Hillier, LaDeana W.; Jiang, Zhaoshi; Baker, Carl; Malfavon-Borja, Ray; Fulton, Lucinda A.; Alkan, Can; Aksay, Gozde; Girirajan, Santhosh; Siswara, Priscillia; Chen, Lin; Cardone, Maria Francesca; Navarro, Arcadi; Mardis, Elaine R.; Wilson, Richard K.; Eichler, Evan E.
2009-02-12

Digital.CSIC (Spain)