Search results for "Run"

Genome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes

2021

Aim: Recessive genetic variation is thought to play a role in non-Hodgkin lymphoma (NHL) etiology. Runs of homozygosity (ROH), defined based on long, continuous segments of homozygous SNPs, can be used to estimate both measured and unmeasured recessive genetic variation. We sought to examine genome-wide homozygosity and NHL risk.Methods: We used data from eight genome-wide association studies of four common NHL subtypes: 3061 chronic lymphocytic leukemia (CLL), 3814 diffuse large B-cell lymphoma (DLBCL), 2784 follicular lymphoma (FL), and 808 marginal zone lymphoma (MZL) cases, as well as 9374 controls. We examined the effect of homozygous variation on risk by: (1) estimating the fraction o…

Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

1997

AbstractCleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, deletion, and missense mutations lead to translational stop codons in the DNA binding domain or in the C-terminal transactivating region. In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. We conclude th…

Morphological characteristics, microsatellite fingerprinting and determination of incompatibility genotypes of Sicilian sweet cherry cultivars

2007

Sicily has extensive germplasm of diploid sweet cherry (Prunus avium L.) that has not been well studied. In this investigation, 39 cherry accessions, selected from collections and farms, were analysed using molecular markers and characterised for various morphological and other agronomic characters such as flesh colour, fruit size, quality and, in some cases, ripening periods. Thirteen Simple Sequence Repeat (SSR) primer pairs, as well as two primer pairs for the incompatibility (S) locus, which amplified across the first intron of the S-RNase gene and across the intron of the SFB gene, were used in three multiplexed reactions to analyse the accessions. The number of alleles per SSR locus r…

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

2009

Development of “universal” gene-specific markers from Malus spp. cDNA sequences, their mapping and use in synteny studies within Rosaceae

2009

The Rosaceae contains many economically valuable crop genera, including Malus (apple), Fragaria (strawberry), and Prunus (stone fruit). There has been increasing interest in the development of linkage maps for these species, with a view to marker-assisted selection to assist breeding programs and, recently, in the development of transferable markers to permit syntenic comparisons of maps of different rosaceous genera. In this investigation, a set of Malus cDNA sequences were downloaded from the European Molecular Biology Laboratory database. The sequences were aligned with homologous full-length Arabidopsis genomic DNA sequences to identify putative intron–exon junctions and conserved flank…

Intra-allelic variation in introns of the S13-RNase allele distinguishes sweet, wild and sour cherries

2010

The cherry (Prunus avium), a self-incompatible diploid species, and the sour cherry (Prunus cerasus), a self-incompatible or self-compatible allotetraploid species derived from P. avium and Prunus fruticosa, share several S-RNase alleles, including S13. An inactive form, S13° ,i s found in some sour cherries. Two (AT) microsatellites are associated with allele S13-RNase, one in the first intron and one in the second. Their length polymorphisms were studied in 14 sweet and 17 wild cherries (both P. avium) and in 42 sour cherries. Fluorescent primers amplifying each microsatellite were designed and amplification prod- ucts sized on an automated sequencer. Variants ranged from 247 to 273 bp fo…

Un site de plein air du Mésolithique ancien à Tramoyes « Sous le Port » (Ain)

2016

Der Fundplatz wurde am heute trockengelegten Lac des Echets lokalisiert, in einem sandigen Kontext alluvialen Ursprungs, der sich den OSL-Datierungen zufolge im jüngeren Spätglazial abgelagert hatte. Die ergrabene Fläche ist zu klein, um die räumliche Organisation der durch verstreute Geröll- und Feuersteingeräte materialisierten Spuren zu erfassen. Der größte Teil der Funde wird dem Frühmesolithikum des Typs Beuronien zugeordnet, zu dem einige Elemente des älteren Sauveterrien kommen. Die 14C-Datierungen ordnen diese Belegungsphasen in das mittlere Präboreal ein. Die technotypologischen Merkmale der Steinartefakte zeigen, dass beim Abbau vorwiegend Lamellen produziert werden, daneben auch …

Flash-flooding of Ephemeral Streams in the Context of Climate Change

2021

Ephemeral streams, which are more extended than expected, entail a significant flood risk. Historically they have been underestimated due to their intermittent flow and the lack of knowledge on their hydro-geomorphology. Currently, European legislation recognizes their associated risk and supports research into them, adapting the scale and methodology to their characteristics. Based on the compilation of various works carried out in four Valencian catchments (Eastern Spain), this paper approaches the key questions of rainfall-runoff conversion and flood generation in ephemeral streams, taking into account their hydro-geomorphological specificity. Moreover, the consequences which derive from…

Cambios en los usos del suelo y producción de escorrentía en ramblas mediterráneas: Carraixet y Poyo (1956-1998)

2007

Ana.Camarasa@uv.es Juan.Mateu@uv.es Este trabajo analiza el efecto de los cambios recientes en los usos del suelo en la génesis de escorrentía en ramblas mediterráneas utilizando un SIG. Para el cálculo de la producción de escorrentía se ha utilizado el método desarrollado por el S.C.S. modificado por Témez (1978) que combina los mapas de pendientes, usos del suelo y grupo hidrológico del suelo. Se ha aplicado una adaptación del método propuesta por Camarasa et al. (2006) basado en la interpretación hidrogeomorfológica de la cuenca para la estimación del grupo hidrológico de suelo. Los resultados muestran una variabilidad espacial y temporal importante en la dinámica de producción de escorr…

Soil moisture changes after land abandonment in the Central Spanish Pyrenees

2001

14 páginas, 3 tablas, 6 figuras.