Ein neuer Genort für eine autosomal-dominante, nichtsyndromale Schwerhörigkeit (DFNA33) liegt auf Chromosom 13q34-qte

Bei der Untersuchung einer deutschen Familie mit nichtsyndromalem Hörverlust mit frühem Beginn und autosomal-dominantem Erbgang konnten wir eine Kopplung zu bekannten DFNA-Loci ausschließen und die Existenz eines neuen Locus (DFNA33) bestätigen. Mit einem nachfolgenden Genom-Scan wurde der Phänotyp auf einem 6-cM-Intervall auf Chromosom 13q34-qter kartiert. Für den Marker D13S285 wurde ein maximaler 2-Punkt-Lodscore von 2,96 erreicht, der maximale Lodscore in der Multipoint-Analyse betrug 3,28 bei 124,56 cM. = By investigation of a German family pedigree with non-syndromic hearing impairment of early onset and autosomal-dominant mode of inheritance, linkage to known DFNA loci was excluded, and the existence of a new locus (DFNA33) was revealed. In a subsequent genomic scan the phenotype was mapped to a 6 cM interval on chromosome 13q34-qter. A maximum two-point lod score of 2.96 was obtained for the marker D13S285 with a maximum lod score in the multipoint analysis of 3.28 at 124.56 cM

Critical adsorption near edges

Symmetry breaking surface fields give rise to nontrivial and long-ranged order parameter profiles for critical systems such as fluids, alloys or magnets confined to wedges. We discuss the properties of the corresponding universal scaling functions of the order parameter profile and the two-point correlation function and determine the critical exponents eta_parallel and eta_perpendicular for the so-called normal transition.Comment: 22 pages, 5 figures, accepted for publication in PR

Refractive Index of Humid Air in the Infrared: Model Fits

The theory of summation of electromagnetic line transitions is used to tabulate the Taylor expansion of the refractive index of humid air over the basic independent parameters (temperature, pressure, humidity, wavelength) in five separate infrared regions from the H to the Q band at a fixed percentage of Carbon Dioxide. These are least-squares fits to raw, highly resolved spectra for a set of temperatures from 10 to 25 C, a set of pressures from 500 to 1023 hPa, and a set of relative humidities from 5 to 60%. These choices reflect the prospective application to characterize ambient air at mountain altitudes of astronomical telescopes.Comment: Corrected exponents of c0ref, c1ref and c1p in Table

Wetting films on chemically heterogeneous substrates

Based on a microscopic density functional theory we investigate the morphology of thin liquidlike wetting films adsorbed on substrates endowed with well-defined chemical heterogeneities. As paradigmatic cases we focus on a single chemical step and on a single stripe. In view of applications in microfluidics the accuracy of guiding liquids by chemical microchannels is discussed. Finally we give a general prescription of how to investigate theoretically the wetting properties of substrates with arbitrary chemical structures.Comment: 56 pages, RevTeX, 20 Figure

Educators' working conditions in a day care centre on ownership of a non-profit organization

Background: Working conditions of nursery school teachers have not been scrutinized thoroughly in scientific research. Only a few studies have so far examined work-load and strain in this profession. Preferably, subjective perceptions should be corroborated by data that can be quantified more objectively and accurately. The aim of the present observational field study was to evaluate pedagogical staffs' workflow. Methods: In 2009 eleven educators in a day care centre were observed throughout three complete workdays. A total of 250 working hours were recorded. Results: An educators' workday lasted on average 07:46:59 h (SD = 01:01:10 h).Within this time span, an average of 02:20:46 h (30.14%, SD = 00:28:07 h) were spent on caring, 01:44:18 h on playing (22.33%, SD = 00:54:12 h), 00:49:37 h on educational work (10.62%, SD = 00:40:09), and only 00:05:38 h on individual child contact (1.21%, SD = 00:04:58 h). Conclusion: For the first time, educators' workflow in day care centres was studied in real time. Some of the educators' self-reported problems were corroborated. The results of this study form a basis upon which further investigations can be built and measures can be developed for an overall improvement of child care

Transgene Expression Is Associated with Copy Number and Cytomegalovirus Promoter Methylation in Transgenic Pigs

Transgenic animals have been used for years to study gene function, produce important proteins, and generate models for the study of human diseases. However, inheritance and expression instability of the transgene in transgenic animals is a major limitation. Copy number and promoter methylation are known to regulate gene expression, but no report has systematically examined their effect on transgene expression. In the study, we generated two transgenic pigs by somatic cell nuclear transfer (SCNT) that express green fluorescent protein (GFP) driven by cytomegalovirus (CMV). Absolute quantitative real-time PCR and bisulfite sequencing were performed to determine transgene copy number and promoter methylation level. The correlation of transgene expression with copy number and promoter methylation was analyzed in individual development, fibroblast cells, various tissues, and offspring of the transgenic pigs. Our results demonstrate that transgene expression is associated with copy number and CMV promoter methylation in transgenic pigs

Ein neuer Genort für eine autosomal dominante, nichtsyndromale Hörstörung (DFNA57) kartiert auf Chromosom 19p13.2 und überlappt mit DFNB15

BACKGROUND: Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 54 loci for autosomal dominant non-syndromic sensorineural hearing loss (NSSHL) have been identified by linkage analysis. METHODS: In this study a German pedigree has been identified segregating a progressive bilateral loss of lower and middle frequencies. RESULTS: A genome-wide screening and linkage analysis revealed the existence of a new NSSHL locus (DFNA57). The phenotype was mapped to a 10 degrees Mbp interval on chromosome 19p13.2 from 7.8 to 18.2 degrees Mbp, a maximum 2-point LOD score of 3.08 was obtained for the marker D19S586. The region overlaps with the recessive locus DFNB15. CONCLUSION: The results underline the heterogeneity of hereditary hearing disorders. Identification of genes can help to reach a better understanding of the molecular mechanism of hearing

Kartierung eines neuen Genlocus auf Chromosom 13q34-qter bei autosomal dominanter nicht-syndromaler Hörstörung

Bei einer großen Familie (MS-DFN 0001) mit nicht-syndromaler Hörstörung und autosomal-dominantem Erbgang wurde eine genetische Kopplungsanalyse durchgeführt. Dabei wurden alle bisher für diese Erkrankung bekannten autosomal dominanten Loci (DFNA 1-44) ausgeschlossen. Den höchsten 2-Punkt - Lod score erreichte dabei der Indexmarker D13S285 mit einem ermittelten Wert von 2.96. In der Folge wurde die kritische Region für den neuen Locus DFNA33 auf ein 6-cM großes Intervall auf Chromosom 13q34-qter eingegrenzt, sie enthält eine Reihe von plausiblen Kandidatengenen: SOX1, TFDP1und ATP4B. Letzteres Gen zeigt Verwandtschaft mit ATP2b2, ein analoges Gen der Maus bei einer murinen Hörstörung (dfw), und wird derzeit mit Vorrang untersucht