Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies

Genome-wide disease-association mapping has been heralded as the study design of the next generation, but the lack of analytical methods to use genotype data fully is a large stumbling block. Here we describe an algorithm and statistical method that efficiently and exhaustively exploits haplotype information by subjecting alleles (a marker or contiguous sets of markers) from sliding windows of all sizes to transmission disequilibrium tests. By applying our method to simulated data and to Hirschsprung disease, we show that it can detect both common and rare disease variants of small effect. These results show that the theoretical benefits of genome-wide association studies are at last realizable.     

Two-dimensional geometry of spin excitations in the high-transition-temperature superconductor YBa2Cu3O6+x

The fundamental building block of the copper oxide superconductors is a Cu4O4 square plaquette. The plaquettes in most of these materials are slightly distorted to form a rectangular lattice, for which an influential theory predicts that high-transition-temperature (high-T(c)) superconductivity is nucleated in 'stripes' aligned along one of the axes. This theory received strong support from experiments that indicated a one-dimensional character for the magnetic excitations in the high-T(c) material YBa2Cu3O6.6 (ref. 4). Here we report neutron scattering data on 'untwinned' YBa2Cu3O6+x crystals, in which the orientation of the rectangular lattice is maintained throughout the entire volume. Contrary to the earlier claim, we demonstrate that the geometry of the magnetic fluctuations is two-dimensional. Rigid stripe arrays therefore appear to be ruled out over a wide range of doping levels in YBa2Cu3O6+x, but the data may be consistent with liquid-crystalline stripe order. The debate about stripes has therefore been reopened.     

Quasi-particle injection into YBa2Cu3O7-δ micro-bridge

The perspectives of fast three-terminal (3T) super- conducting devices with considerable gain have triggered many research activities on suppression of superconductivity; especially on that in high-Tc superconductors[1—3] and many achievements have been obtained. Unfortunately, certain factors such as current superposition and heating are overlooked in some experiments, thus leaving much room for improvement. With YBCO micro-bridges, we have looked at quasiparticle injections in the forms o…     

Isolation and Characterization of Phytoene Desaturase cDNA from Stigma of Crocus sativus

Phytoene desatumse (PDS) has recently been identified as an important enzyme in carotenoid biosynthesis pathway. A cDNA clone encoding phytoene desaturase gene is isolated from stigma of saffron (Crocus sativus L. ) using RT-PCR technique. Sequence analysis shows 85% similarity to Narcissus pseudonarcissus, 79% to Zea mays, 78% to Arabidopsis thaliana, 77% to Lycopersicon esculentum. A new full-length cDNA is obtained by 5 ‘-RACE and 3‘ -RACE techniques. The cDNA is 2149bp long with an open reading frame of 1697bp, which encodes a polypeptide of 565 amino acids. Southern analy-sis shows that the PDS gene is a single copy in saffron. Northern blot analysis shows higher expression level of PDS gene in stigma and anther than in leaves and stem.     

Acid etching process for fabrication of Bi2Sr2CaCu2O8＋x stack

We adopted a new method, acid etching process, to fabricate the intrinsic Josephson junctions based on the Bi2Sr2CaCu2O8 x single crystals. By soaking the crystals into the dilute hydrochloric acid, we fabricated a junction stack successfully, and meantime made the surrounding area insulated. A certain concentration of hydrochloric acid was used to maintain the roughness of the modified layer. The cur-rent-voltage characteristic was achieved through the four terminal measurement. We could control the junctions' number by changing the concentration and the soaking time. We also found that the thick-ness of the stack was equal to the average height of the insulation layer. Such a simple, convenient and controllable fabrication method with a high yield might widen the applications of the intrinsic Joseph-son junctions.     

Microstructure and properties of Si-TaSi2 eutectic in situ composite for field emission

The Si-TaSi2 eutectic in situ composite for field emission is prepared by electron beam floating zone melting (EBFZM) technique on the basis of Czochralski (CZ) crystal growth technique. The directional solidification microstructure and the field emission properties of the Si-TaSi2 eutectic in situ composite prepared by two kinds of crystal growth techniques have been systematically tested and compared. Researches demonstrated that the solidification microstructure of EBFZM can be fined obviously be-cause of the relatively high solidification rate and very high temperature gradient, i.e. both the diameter and inter-rod spacing of the TaSi2 fibers prepared by EBFZM technique were decreased, and the density and the volume fraction of the TaSi2 fibers prepared by EBFZM technique were increased in comparison with that of the TaSi2 fibers prepared by CZ method. Therefore the field emission property of the Si-TaSi2 eutectic in situ composite prepared by EBFZM can be improved greatly, which exhibits better field emission uniformity and straighter F-N curve.     

Isolation, characterization and functional analysis of a cdc48 homologue from tobacco BY-2 cells

The fission yeast Schizosaccharomyces pombe was used to identify genes from tobacco BY-2 cells that may play roles in cell cycle regulation. A cDNA encoding a protein homologous to the yeast CDC48 was isolated and the gene was designated as NtCDC48. The cDNA contains an open reading frame coding for a predicted protein of 808 amino acids which comprises of two typical ATPase modules (aa 245?374 and aa 518?646). Overexpression of NtCDC48 in tobacco BY-2 cells led to an increase in the mitotic index as well as to the formation of diffused mitotic spindles. NtCDC48-GFP fusion proteins are distributed ubiquitously through G1 to M phases, yet their subcellular localization varied regularly along with the cell cycle progression. These results indicate that NtCDC48 may play an important role in the regulation of cell cycle in BY-2 cells.     

Crystallogeny fundamentals of the cholesterol gallstone

The nucleation mechanism and crystal growth process of the cholesterol gallstone are studied and a systematic theory expounded by crystallogeny is proposed. Normal feed and stone-forming feed were used to raise guinea pigs in the control and stone-causing groups respectively. The state and transformation of liquid crystal vesicles, the appearance of crystal nuclei, and the formation of microcrystal grains were observed under a polarizing microscope during the experimental period. It was found that the liquid crystal vesicles in the bile of the control group were small, scattered, and always existed as single forms, and no shaped gallstone crystals were formed. While in the stone-causing group, liquid crystal vesicles grew to larger ones, and then aggregated to form large liquid crystal cells. Solid crystal growth along the edge of these liquid crystal cells formed microcrystal grains. These demonstrated that bile liquid crystal vesicles form the basic nuclei of cholesterol gallstone. Heterogeneous nucleation is the common process in the formation of crystal nuclei and crystal growth.     

Numerical research on the 3D fiber orientation distribution in arbitrary planar flows

The fiber orientation distribution in a fiber suspension flow was investigated by a finite difference scheme in spherical coordinates. The diffusivity was transformed between Cartesian and spherical coordinates through tensor analysis to obtain efficiency. It is found that under simple shear flow condition the diffusivity in the azimuthal direction, Dr, has greater effect on the orientation distribution than that in the colatitude direction, Drθθ.