Search results for "Genetic model"
showing 10 items of 46 documents
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.
2006
Summary: Purpose: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial seizures, onset age from 3 to 9 months, and favorable outcome. BFIS loci were identified on chromosomes 19q12-13.1 and 16p12-q12, allelic to infantile convulsions and choreathetosis. The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS may show overlapping clinical features. Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis. Methods: Sixteen families were examined. Probands …
Muscle Cross-Sectional Area and Structural Bone Strength Share Genetic and Environmental Effects in Older Women
2009
The purpose of this study was to estimate to what extent muscle cross-sectional area of the lower leg (mCSA) and tibial structural strength are influenced by common and trait-specific genetic and environmental factors. pQCT scans were obtained from both members of 102 monozygotic (MZ) and 113 dizygotic (DZ) 63- to 76-yr-old female twin pairs to estimate the mCSA of the lower leg, structural bending strength of the tibial shaft (BSIbend), and compressive strength of the distal tibia (BSIcomp). Quantitative genetic models were used to decompose the phenotypic variances into common and trait-specific additive genetic (A), shared environmental (C), and individual environmental (E) effects. The …
Likelihood Calculations in Paternity Testing on the Basis of DNA-Fingerprints
1990
DNA-fingerprints seem to be a powerful tool in paternity testing. But the quantification of the results in terms of likelihood and likelihood ratios is a problem, because in most cases the correct genetic model and its parameters are not known. Two approaches have been suggested to circumvent these problems. The use of band sharing rates to distinguish between pairs of relatives and pairs of unrelated individuals, and the calculation of likelihood ratios on the basis of simplifying assumptions. The first approach reduces the available genetic evidence to “phenotypic” similarities. The second one makes unjustified simplifying assumptions. These two decision strategies have to be examined wit…
Variability of Soil Organic Carbon and radiocarbon in a Mediterranean benchmark Vertisol
2013
Capturing digital data of rock magnetic, gamma-ray and IR spectrometry for in-situ quality control and for the study of the physical–chemical regime …
2014
Abstract Residual kaolin deposits are operated on a worldwide basis. The majority of them is derived from chemical weathering of felsic rocks during the Cenozoic. This is true for the kaolin deposits on the western edge of the Bohemian Massif. Here this type of deposit provides industrial minerals for the ceramic industry in SE Germany. This raw material formed under tropical climatic conditions during the Miocene and Pliocene across a vast peneplain. Only within the Naab-Wondreb Depression, however, were economic accumulations preserved from erosion. Here near Tirschenreuth, kaolin has been mined since its discovery in 1830. The semi-consolidated regolith is composed of quartz and opaline …
Neurobiological Models of the Central Complex and the Mushroom Bodies
2013
This study reviews the actual knowledge on functions of the central complex (CX) and the mushroom bodies (MBs) in a genetic model insect, the fly Drosophila melanogaster. Ongoing research of UNIMAINZ and respective data are included. Reference is made to other insects, where respective functions are not yet studied in Drosophila. Neuroanatomical information is reported with regard to the general flow of information in these central brain neuropils. Particular projection systems and circuits are taken into account where this can be linked to functions. Models are developed.
The central control of oriented locomotion in insects - towards a neurobiological model
2010
A neurobiological model for the higher control of oriented locomotion in insects is developed here. It is based on studies in a genetic model insect, the fruit fly Drosophila melangaster. Reference is made to other insects, where respective functions are not yet studied in Drosophila. Flies can walk swiftly with up to 16 steps per second, each leg, on almost any substrate and in any orientation to the gravity vector. To bring about this astounding maneuverability and agility the central complex within the insect brain derives directional commands for the leg coordination centers in the thoracic nervous system. Neuroanatomical information is taken into account with regard to the general flow…
Biochemical identification and tissue-specific expression patterns of keratins in the zebrafish Danio rerio
1998
We have identified a number of type I and type II keratins in the zebrafish Danio rerio by two-dimensional polyacrylamide gel electrophoresis, complementary keratin blot-binding assay and immunoblotting. These keratins range from 56 kDa to 46 kDa in molecular mass and from pH 6.6 to pH 5.2 in isoelectric point. Type II zebrafish keratins exhibit significantly higher molecular masses (56-52 kDa) compared with the type I keratins (50-48 kDa), but the isoelectric points show no significant difference between the two keratin subclasses (type II: pH 6.0-5.5; type I: pH 6.1-5.2). According to their occurrence in various zebrafish tissues, the identified keratins can be classified into "E" (epider…
Effect of the IL28B Rs12979860 C/T polymorphism on the incidence and features of active cytomegalovirus infection in allogeneic stem cell transplant …
2013
The current study was aimed at investigating whether the single nucleotide polymorphism (SNP) (rs12979860), upstream of the IL28B gene, had any effect on the incidence rate and the features of active CMV infection in the Allogeneic stem cell transplantation setting. This was a retrospective observational study including 151 patients undergoing T cell-replete Allo-SCT. Donor and recipient IL28 SNP genotype was determined by allele-specific real-time PCR. The incidence rate of active CMV infection was not significantly associated with either the donor or the recipient IL28B SNP genotype. Nevertheless, a trend towards a lower incidence of active CMV infection was noted in the donor T/T populat…
The inheritance of organogenic response in melon
1996
Previous studies have demonstrated variation in organogenic competence among plants within a population ofCucumis melo. In order to determine if leaf explant response is under genetic control, we investigated the distribution of the shoot regeneration frequency in F1 and F2 generations from parents representing extreme values forin vitro organogenic response. Results suggest a genetic model with two genes, partial dominance, independent segregation and similar effects for both genes.