Human BANP (BTG3 Associated Nuclear Protein) ELISA Kit

Background: Genome-wide association studies of Single Nucleotide Polymorphisms (SNPs) have identified 55 SNPs associated with lung function. However, little is known about the effect of copy number variants (CNVs) on lung function, although CNVs represent a significant proportion of human genetic polymorphism. To assess the effect of CNVs on lung function quantitative traits, we measured copy number at 2788 previously characterised, common copy number variable regions in 6 independent cohorts (n = 24,237) using intensity data from SNP genotyping experiments. We developed a pipeline for genome-wide association analysis and meta-analysis of CNV genotypes measured across multiple studies using SNP genotype array intensity data from different platform technologies. We then undertook cohort-level genome-wide association studies of CNV with lung function in a subset of 4 cohorts (n < = 12,403) with lung function measurements and meta-analysed the results. Follow-up was undertaken for CNVs which were well tagged by SNPs, in up to 146,871 individuals. Results: We generated robust copy number calls for 1962 out of 2788 (70 %) known CNV regions genome-wide, with 1103 measured with compatible class frequencies in at least 2 cohorts. We report a novel CNV association (discovery P = 0.0007) with Forced Vital Capacity (FVC) downstream of BANP on chromosome 16 that shows evidence of replication by a tag SNP in two independent studies (replication P = 0.004). In addition, we provide suggestive evidence (discovery P = 0.0002) for a role of complex copy number variation at a previously reported lung function locus, containing the rootletin gene CROCC, that is not tagged by SNPs. Conclusions: We demonstrate how common CNV regions can be reliably and consistently called across cohorts, using an existing calling algorithm and rigorous quality control steps, using SNP genotyping array intensity data. Although many common biallelic CNV regions were well-tagged by common SNPs, we also identified associations with untagged mulitallelic CNV regions thereby illustrating the potential of our approach to identify some of the missing heritability of complex traits.

Single crystals of barium nitroprusside trihydrate (BaNP) were investigated by Fourier transform 'wide-line' NMR at 40 K and by proton spin-lattice relaxation time in the temperature range from 320 to 30 K. The analysis of the spectra yielded the dipolar-dipolar (DD) coupling tensors of three different water molecules. Two of the DD tensors show the asymmetry parameters eta = 0.08 and 0.09. These results are interpreted in terms of librational motions of the water molecules. A model for such motions is proposed and the angles of librations are calculated The positions of the proton-proton vectors in the unit cell of the crystal obtained from DD tensors coincide with the neutron diffraction data of BaNP. The proton spin-lattice relaxation times T-1 at low temperatures were interpreted in terms of the dipole-dipole interactions modulated by the oscillation of the proton-proton vector between two minima of an asymmetric double-well potential. The following parameters for this motion have been obtained: E(a), = 3.4 kJ mol(-1), tau(0), = 3.9 x 10(-13) s and Delta E = 1.50 kJ mol(-1).