Fatty acids profile of pulp and nuts of Brazilian fruits

Fruits and nuts from the North and Northeast regions of Brazil were collected to determine the fatty acid profile of their oils. The species studied were Brazil (Bertholletia excelsa H.B.K.), Mucajá (Couma rigida M.), Inajá (Maximiliana maripa D.), Jenipapo (Genipa Americana L.), and Buriti (Mauritia flexuosa L.) nuts. Fatty acid methyl esters were analyzed by gas chromatography with flame ionization detection (GC-FID). Brazil nut major fatty acid was 18:3n-3 (α-linolenic acid), and Buriti nut had approximately 23 times more 18:3n-3 than the pulp. Mucajá nut presented high content of 12:0 (lauric acid) and 16:0 (palmitic acid), and Mucajá pulp showed significant levels of 18:2n-6 (linoleic acid). Considering the PUFA (polyunsaturated fatty acid) sum values, almost all fruits and nuts analyzed presented very high levels of these compounds. Regarding n-6/n-3 ratio, only Brazil Nut, Buriti Nut, Inajá pulp, and Jenipapo pulp corresponded to the desired profile. These Brazilian fruits and nuts could be of potential interest due to their high nutritive value and lipid content.

Micronúcleos (MN) e intercambio de cromátides hermanas (ICH) como pruebas indicadoras de la acción mutagénica de diazepam y del difenilhidantoinato de sodio.

Tesis (Maestría en Ciencias con Especialidad en Genética) UANL

Organización del locus del complejo GH-PL en el mono araña (Atelesgeoffroyi)

Tesis (Maestria en Ciencias con Especialidad en Biología Molecular e Ingeniería Genetica) UANL

Las pruebas de filiación : apuntes de genética para abogados

Esta obra pretende llenar el vacío de conocimiento sobre pruebas de paternidad o maternidad existente entre las personas que, por su ocupación o profesión, deben interpretarlas y no poseen las herramientas de análisis para entender la información contenida en el resultado. Está dirigido entonces a abogados, jueces, personas que laboran en los despachos de los juzgados de familia, defensores de familia y al público en general. Está escrito tal y como los estudiantes de posgrado de Derecho de Familia de la Universidad Externado de Colombia y de pregrado de la Facultad de jurisprudencia de la Universidad el Rosario lo han pedido, a través de cientos de preguntas realizadas en clase, las cuales fueron clasificadas y organizadas. Esta labor ha permitido dar respuesta a estos interrogantes de acuerdo con los requisitos del abogado como lector

Análisis de polimorfismos del receptor Beta 2 adrenérgico en pacientes colombianos afectados por fibrosis quística

El gen ADRB2 y sus polimorfismos se han asociado al cuadro clínico de los pacientes con Fibrosis Quística. En nuestra población existe asociación de los haplotipos G16E27I164 y R16Q27I164 y la enfermedad, así como la presencia de Pólipos y genotipo E27E y el haplotipo R16E27T164.

Desarrollo de una aplicación de computador para analizar parámetros estadísticos genético-poblacionales de microsatélites en poblaciones humanas

La información y los datos genéticos que emanan hoy de las investigaciones del genoma humano demandan el desarrollo de herramientas informáticas capaces de procesar la gran cantidad de información disponible. La mayor cantidad de datos genéticos es el resultado de equipos que realizan el análisis simultáneo de cientos o miles de polimorfismos o variaciones genéticas, de nuevas técnicas de laboratorio de mayor rendimiento que, en conjunto, ofrecen una mayor disponibilidad de información en un corto espacio de tiempo. Esta problemática conduce a la necesidad de desarrollar nuevas herramientas informáticas capaces de lidiar con este mayor volumen de datos genéticos. En el caso de la genética de poblaciones, a pesar de que existen herramientas informáticas que permiten procesar y facilitar el análisis de los datos, estas tienen limitaciones como la falta de conocimiento de los usuarios de algunos lenguajes de programación para alimentar la información y otras herramientas informáticas no realizan todas las estimaciones que se requieren y otros presentan limitaciones en cuanto al número de datos que pueden incorporar o manejar. En algunos casos hay redundancia al tener que usarse dos o más herramientas para poder procesar un conjunto de datos de información genética. El presente trabajo tiene por objetivo el desarrollo de una herramienta informática basada en aplicaciones de computador comunes, en este caso Microsoft Excel® y que resuelva todos los problemas y las limitaciones descritas antes. El desarrollo del conjunto de subprogramas que constituyen a Lustro; permiten superar lo anterior, presentar los resultados en un ambiente sencillo, conocido y fácil de operar, simplificando de esta forma el proceso de adaptación del usuario del programa, sin entrenamiento previo, obteniéndose en corto tiempo el procesamiento de la información genética de interés.

Rendimiento operativo de la tamizacion doble ajustada por raza para la deteccion de aneuploidias en poblacion colombiana

Actualmente, los algoritmos utilizados para la detección de alteraciones cromosómicas se han basado en los resultados obtenidos de poblaciones caucásicas, afrocaribeñas y asiáticas, las cuales, no tienen las mismas características de la raza mestiza. De allí, surgió el interés de realizar un estudio que permitiera determinar los valores de los marcadores serológicos, empleados en la tamización de aneuploidías, en población latina, para establecer un punto de corte ajustado a la raza mestiza. Se encuentra en desarrollo un estudio de validación de prueba diagnóstica, cuyos avances se presentan a continuación. En esta investigación, hasta el momento, se han incluido 1418 pacientes entre 11-13.6 semanas, sometidas a tamización combinada para la detección de aneuploidías. Se realizó un ajuste por raza de valores de medianas y sus múltiplos para los marcadores y se determinó el rendimiento operativo de la prueba luego de dicho ajuste. Posteriormente, se realizó una comparación entre ambas pruebas. Los niveles de B-hCG son 17.1 % más bajos en población mestiza colombiana, comparado con población caucásica y los niveles de PAPP-A son 19% inferiores. Las tasas de detección de la prueba, utilizando los valores convencionales, son del 60 % y, luego del ajuste por raza, es del 53 %. Haciendo el cálculo de riesgo, utilizando los nuevos múltiplos de mediana, no existen diferencias en aplicar la tamización con los valores convencionales entre las semanas 11 y 12 pero, en semana 13, los valores aplicados a población caucásica presentan una mejor tasa de detección que utilizar la prueba ajustada.

"Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology"

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder haracterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP is caused by mutations in 8 distinct genes (XPA through XPG and XPV). The XP-V (variant) subtype of the disease results from mutations in a gene (XPV, also named POLH) which encodes for Polg, a member of the Y-DNA polymerase family. Although the presence and severity of skin and neurological dysfunctions differ between XP subtypes, there are overlapping clinical features among subtypes such that the sub-type cannot be deduced from the clinical features. In this study, in order to overcome this drawback, we undertook whole-exome sequencing in two XP sibs and their father. We identified a novel homozygous nonsense mutation (c.897T.G, p.Y299X) in POLH which causes the disease. Our results demonstrate that next generation sequencing is a powerful approach to rapid determination of XP genetic etiology.

Genética, riesgo y derecho penal: una aproximación interdisciplinaria

Este texto presenta un estudio científico y jurídico sobre la genética y el derecho penal, con el objeto de realizar un pequeño aporte para la superación de la polarización política y moral de los debates sobre la genética y el derecho, que sólo ha conducido a una desafortunada paralización de la regulación sobre el tema que aumenta los riesgos para la salud humana y el equilibrio de los ecosistemas. Ante una problemática tan compleja, el derecho moderno no plantea una solución unitaria, sino una metodología a través de la cual cada sociedad democráticamente pueda adoptar sus propias decisiones frente a la salvaguarda de su patrimonio genético.

The impact of genome defense on mobile elements in Microbotryum

Repeat induced point mutation (RIP), a mechanism causing hypermutation of repetitive DNA sequences in fungi, has been described as a ‘genome defense’ which functions to inactivate mobile elements and inhibit their deleterious effects on genome stability. Here we address the interactions between RIP and transposable elements in the Microbotryum violaceum species complex. Ten strains of M. violaceum, most of which belong to different species of the fungus, were all found to contain intragenomic populations of copia-like retrotransposons. Intragenomic DNA sequence variation among the copia-like elements was analyzed for evidence of RIP. Among species with RIP, there was no significant correlation between the frequency of RIP-induced mutations and inferred transposition rate based on diversity. Two strains of M. violaceum, from two different plant species but belonging to the same fungal lineage, contained copia-like elements with very low diversity, as would result from a high transposition rate, and these were also unique in showing no evidence of the hypermutation patterns indicative of the RIP genome defense. In this species, evidence of RIP was also absent from a Class II helitron-like transposable element. However, unexpectedly the absolute repetitive element load was lower than in other strains.

A two-locus forensic match probability for subdivided populations

A two-locus match probability is presented that incorporates the effects of within-subpopulation inbreeding (consanguinity) in addition to population subdivision. The usual practice of calculating multi-locus match probabilities as the product of single-locus probabilities assumes independence between loci. There are a number of population genetics phenomena that can violate this assumption: in addition to consanguinity, which increases homozygosity at all loci simultaneously, gametic disequilibrium will introduce dependence into DNA profiles. However, in forensics the latter problem is usually addressed in part by the careful choice of unlinked loci. Hence, as is conventional, we assume gametic equilibrium here, and focus instead on between-locus dependence due to consanguinity. The resulting match probability formulae are an extension of existing methods in the literature, and are shown to be more conservative than these methods in the case of double homozygote matches. For two-locus profiles involving one or more heterozygous genotypes, results are similar to, or smaller than, the existing approaches.

Messenger RNA expression of Pabpnl1 and Mbd3l2 genes in oocytes and cleavage embryos

Objective: To identify genes specifically expressed in mammalian oocytes using an in silico subtraction, and to characterize the mRNA patterns of selected genes in oocytes, embryos, and adult tissues. Design: Comparison between oocyte groups and between early embryo stages. Setting: Laboratories of embryo manipulation and molecular biology from Departamento de Genetica (FMRP) and Departamento de Ciencias Basicas (FZEA) - University of Sao Paulo. Sample(s): Oocytes were collected from slaughtered cows for measurements, in vitro fertilization, and in vitro embryo culture. Somatic tissue, excluding gonad and uterus tissue, was collected from male and female cattle. Main Outcome Measure(s): Messenger RNA levels of poly(A)-binding protein nuclear-like 1 (Pabpnl1) and methyl-CpG-binding domain protein 3-like 2 (Mbd3l2). Result(s): Pabpnl1 mRNA was found to be expressed in oocytes, and Mbd3l2 transcripts were present in embryos. Quantification of Pabpnl1 transcripts showed no difference in levels between good-and bad-quality oocytes before in vitro maturation (IVM) or between good-quality oocytes before and after IVM. However, Pabpnl1 transcripts were not detected in bad-quality oocytes after IVM. Transcripts of the Mbd3l2 gene were found in 4-cell, 8-cell, and morula-stage embryos, with the highest level observed in 8-cell embryos. Conclusion(s): Pabpnl1 gene expression is restricted to oocytes and Mbd3l2 to embryos. Different Pabpnl1 mRNA levels in oocytes of varying viability suggest an important role in fertility involving the oocyte potential for embryo development. (Fertil Steril (R) 2010; 93: 2507-12. (C) 2010 by American Society for Reproductive Medicine.)

Cytotype-specific ISSR profiles and karyotypes in the Neotropical genus Eigenmannia (Teleostei: Gymnotiformes)

The genus Eigenmannia (Teleostei: Gymnotiformes), a widely distributed fish genus from the Neotropical region, presents very complex morphological patterns and many taxonomic problems. It is suggested that this genus harbors a species complex that is hard to differentiate using only morphological characteristics. As a result, many species of Eigenmannia may be currently gathered under a common name. With the objective of providing new tools for species characterization in this group, an analysis of the polymorphism of DNA inter-simple sequence repeats (ISSR), obtained by single primer amplification reaction (SPAR), combined with karyotype identification, was carried out in specimens sampled from populations of the Upper Parana, So Francisco and Amazon river basins (Brazil). Specific ISSR patterns generated by primers (AAGC)(4) and (GGAC)(4) were found to characterize the ten cytotypes analyzed, even though the cytotypes 2n = 38 and 2n = 38 XX:XY, from the Upper Parana basin, share some ISSR amplification patterns. The geographical distribution of all Eigenmannia specimens sampled was inferred, showing the cytotype 2n = 31/2n = 32 as the most frequent and largely distributed in the Upper Parana basin. The cytotype 2n = 34 was reported for the first time in the genus Eigenmania, restricted to the So Francisco basin. Polymorphic ISSR patterns were also detected for each cytotype. Considering our results and the data reported previously in the literature, it is suggested that many of the forms of Eigenmannia herein analyzed might be regarded as different species. This work reinforces the importance of employing diverse approaches, such as molecular and cytogenetic characterization, to address taxonomic and evolutionary issues.

Astyanax bockmanni Vari and Castro, 2007: an ambiguous karyotype in the Astyanax genus

Despite the widespread distribution of Astyanax bockmanni in streams from Upper Parana River system in central, southeastern, and southern Brazil, just recently, it has been identified as a distinct Astyanax species. Cytogenetic studies were performed in two populations of this species, revealing conservative features. A. bockmanni shows 2n = 50 chromosomes, a karyotypic formula composed of 10 M + 12SM + 12ST + 16A and multiple Ag-NORs. Eight positive signals in subtelocentric/acrocentric chromosomes were identified by fluorescent in situ hybridization (FISH) with 18S rDNA probes. After FISH with 5S rDNA probes, four sites were detected, comprising the interstitial region of a metacentric pair and the terminal region on long arms of another metracentric pair. Little amounts of constitutive heterochromatin were observed, mainly distributed at distal region in two chromosomal pairs. Additionally, heterochromatin was also located close to the centromeres in some chromosomes. No positive signals were detected in the chromosomes of A. bockmanni by FISH with the As-51 satellite DNA probe. The studied species combines a set of characteristics previously identified in two different Astyanax groups. The chromosomal evolution in the genus Astyanax is discussed.

Cytochrome-b variation in Apis mellifera samples and its association with COI-COII patterns

Five Mbo I (Mbo-A, Mbo-M, Mbo-C(1), Mbo-C(2) and Mbo-C(3)) and Hinf I (Hinf-1 to Hinf-5) patterns were observed in Apis mellifera samples after restriction of a 485 bp fragment of the mitochondrial cytochrome-b (cyt-b) gene. Associating the cyt-b Restriction fragment length polymorphism (RFLP) pattern of each sample to its respective previously established COI-COII (Dra I sites) pattern, five restriction patterns (Mbo-C(1), Mbo-C(2), Mbo-C(3), Hinf-1 and Hinf-4) were observed in samples of maternal origin associated to the evolutionary branch C. No deletions or insertions were observed and the nucleotide substitution rate was estimated at 5.4%. Higher nucleotide diversity was observed among the branch C-haplotypes when compared with A and M lineages. Further studies are needed to confirm if the cyt-b + COI-COII haplotypes help to assign certain phylogeographic patterns to the branch C and to clarify phylogenetic relationships among A. mellifera subspecies.