Genetic Analysis of Hematological Parameters in Incipient Lines of the Collaborative Cross

Hematological parameters, including red and white blood cell counts and hemoglobin concentration, are widely used clinical indicators of health and disease. These traits are tightly regulated in healthy individuals and are under genetic control. Mutations in key genes that affect hematological parameters have important phenotypic consequences, including multiple variants that affect susceptibility to malarial disease. However, most variation in hematological traits is continuous and is presumably influenced by multiple loci and variants with small phenotypic effects. We used a newly developed mouse resource population, the Collaborative Cross (CC), to identify genetic determinants of hematological parameters. We surveyed the eight founder strains of the CC and performed a mapping study using 131 incipient lines of the CC. Genome scans identified quantitative trait loci for several hematological parameters, including mean red cell volume (Chr 7 and Chr 14), white blood cell count (Chr 18), percent neutrophils/lymphocytes (Chr 11), and monocyte number (Chr 1). We used evolutionary principles and unique bioinformatics resources to reduce the size of candidate intervals and to view functional variation in the context of phylogeny. Many quantitative trait loci regions could be narrowed sufficiently to identify a small number of promising candidate genes. This approach not only expands our knowledge about hematological traits but also demonstrates the unique ability of the CC to elucidate the genetic architecture of complex traits

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

Autism spectrum disorder (ASD) represents a heterogeneous group of disorders, which presents a substantial challenge to diagnosis and treatment. Over the past decade, considerable progress has been made in the identification of genetic risk factors for ASD that define specific mechanisms and pathways underlying the associated behavioural deficits. In this Review, we discuss how some of the latest advances in the genetics of ASD have facilitated parsing of the phenotypic heterogeneity of this disorder. We argue that only through such advances will we begin to define endophenotypes that can benefit from targeted, hypothesis-driven treatments. We review the latest technologies used to identify and characterize the genetics underlying ASD and then consider three themes—single-gene disorders, the gender bias in ASD, and the genetics of neurological comorbidities—that highlight ways in which we can use genetics to define the many phenotypes within the autism spectrum. We also present current clinical guidelines for genetic testing in ASD and their implications for prognosis and treatment

The Ultratrace Determination of Fluoroquinolones in River Water Samples by an Online Solid-Phase Extraction Method Using a Molecularly Imprinted Polymer as a Selective Sorbent

Fluoroquinolones (FQs) are broad-spectrum antibiotics widely used to treat animal and human infections. The use of FQs in these activities has increased the presence of antibiotics in wastewater and food, triggering antimicrobial resistance, which has severe consequences for human health. The detection of antibiotics residues in water and food samples has attracted much attention. Herein, we report the development of a highly sensitive online solid-phase extraction methodology based on a selective molecularly imprinted polymer (MIP) and fluorescent detection (HPLC-FLD) for the determination of FQs in water at low ng L−1 level concentration. Under the optimal conditions, good linearity was obtained ranging from 0.7 to 666 ng L−1 for 7 FQs, achieving limits of detection (LOD) in the low ng L−1 level and excellent precision. Recoveries ranged between 54 and 118% (RSD < 17%) for all the FQs tested. The method was applied to determining FQs in river water. These results demonstrated that the developed method is highly sensitive and selective

A Single-Tube Quantitative High-Resolution Melting Curve Method for Parent-of-Origin Determination of 15q Duplications

The most common chromosomal abnormalities associated with autism are 15q11–q13 duplications. Maternally derived or inherited duplications of 15q pose a substantial risk for an autism phenotype, while paternally derived duplications may be incompletely penetrant or result in other neurodevelopmental problems. Therefore, the determination of maternal versus paternal origin of this duplication is important for early intervention therapies and for appropriate genetic counseling to the families. We adapted a previous single-reaction tube assay (high-resolution melting curve analysis) to determine the parent of origin of 15q duplications in 28 interstitial duplication 15q samples, one family and two isodicentric subjects. Our method distinguished parent origin in 92% of the independent samples as well as in the familial inherited duplication and in the two isodicentric samples. This method accurately determines parental origin of the duplicated segment and measures the dosage of these alleles in the sample. In addition, it can be performed on samples where parental DNA is not available for microsatellite analysis. The development of this single-tube assay will make it easier for genetic testing laboratories to provide parent-of-origin information and will provide important information to clinical geneticists about autism risk in these individuals

Alumnos superdotados : primer seguimiento del estudio longitudinal de una muestra de 108 alumnos potenciales superdotados nacidos en 1985 y detectados en 1991 en una zona socialmente desfavorecida : análisis comparativo con un grupo de control

Realizar un seguimiento de una muestra de 108 alumnos, nacidos en 1985 y seleccionados como potencialmente bien dotados (BT) en el curso 1990-91. Grupo experimental compuesto por 102 alumnos, 52 varones y 50 mujeres y grupo de control formado por 99 alumnos, 50 varones y 49 mujeres, todos ellos nacidos en 1985, alumnado de quinto de Educación Primaria de centros públicos, privados y concertados de Móstoles (Madrid). Se presenta el marco histórico legislativo sobre el alumnado superdotado y la atención a la diversidad y se analizan los aspectos teóricos de la precocidad, la superdotación y el talento. La selección de la muestra se realiza empleando la estrategia de filtrado. Para la obtención de los datos se aplican pruebas de desarrollo general cognitivo, de autoconcepto, de ansiedad, de actividad preferencial, de creatividad, de retención visual, de nivel de escritura y de rendimiento escolar. Para el análisis de los datos se emplean métodos cuantitativos y cualitativos y las variables de estudio comparadas son cognitivas, aptitudinales e intelectuales; no intelectivas y de la personalidad; de escritura y de rendimiento escolar. El análisis estadístico de los datos se realiza empleando el paquete SSPS. Se adjuntan experiencias de programas educativos en EEUU, entrevistas a profesionales del sector y la legislación española sobre superdotación intelectual. Escala de inteligencia de Wechsler para niños (WISC), Escala de inteligencia de Wechsler para Preescolar y Primaria (WPPSI), prueba de Autoconcepto Forma-A (AFA), Cuestionario de autoevaluación ansiedad estado/rasgo a niños (STAIC), Cuestionario de Actividades Preferenciales (EDAO), Test de Abreacción para Evaluar la Creatividad (TAEC), Test de Retención Visual de Benton (TRUB). El 98,6 por ciento del alumnado seleccionado como bien dotado (BT) en el curso 90-91 se mantiene en el curso 95-96, conservándose el número de varones del grupo experimental (52) y reduciéndose el de mujeres (56) en 6 sujetos. Al igual que en el curso 90-91, no se observan diferencias significativas entre los subgrupos de varones y mujeres. En el curso 90-91 se manifiesta un único factor general con predominio de valores verbales y de información y en el curso 95-96 se presentan otros seis (creatividad gráfica, inteligencia cristalizada, inteligencia fluida autoconcepto, potencial e integración creativa, memoria visual y actividades visoconstructivas), deduciéndose que la estructura factorial de la inteligencia se constituye en la etapa de acceso al periodo de las operaciones formales (10-12 años). Se mantiene el promedio de 1,13 alumnos potencialmente bien dotados, por aula. El grado de eficacia y eficiencia del profesorado en la detección y pronóstico del alumnado potencialmente superdotado está en torno al 50 por ciento. Se constata que la escuela ejerce un poder cultural determinante para definir los C.I. correspondientes a la inteligencia verbal, cultural y cristalizada. Se recomienda la detección del alumnado potencialmente superdotado en Educación Infantil (3-5 años), empleando un modelo mixto de filtrado. Se propone la revisión del concepto de alumnado con alta capacidad intelectual, recomendando la adaptación de la definición implícita en la teoría de los tres anillos de Renzulli.Ministerio Educación CIDEBiblioteca de Educación del Ministerio de Educación, Cultura y Deporte; Calle San Agustín, 5 - 3 Planta; 28014 Madrid; Tel. +34917748000; Fax +34917748026; [email protected]