Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus

BACKGROUND: Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2) gene. To investigate the mutation of AVPR2 gene in a Chinese family with congenital NDI, we screened AVPR2 gene in two NDI patients and eight family members by PCR amplification and direct sequencing. RESULTS: Five specific fragments, covering entire coding sequence and their flanking intronic sequences of AVPR2 gene, were not observed in both patients, while those fragments were all detected in the control subjects. Several different fragments around the AVPR2 locus were amplified step by step. It was revealed that a genomic fragment of 5,995-bp, which contained the entire AVPR2 gene and the last exon (exon 22) of the C1 gene, was deleted and a 3-bp (GAG) was inserted. Examination of the other family members showed that the mothers and the grandmother were carriers for this deletion. CONCLUSION: Our findings suggest that the two patients in a Chinese family suffering from congenital NDI had a 5,995-bp deletion and 3-bp (GAG) insertion at Xq28. The deletion contained the entire AVPR2 gene and exon 22 of the C1 gene

2,3-Diamino­phenazine tetra­hydrate

The title compound, C12H10N4·4H2O, was obtained from a room-temperature solution of o-phenyl­enediamine and copper acetate. In the crystal structure, there are significant π–π stacking inter­actions, with a centroid–centroid separation of 3.575 (2) Å. In addition, inter­molecular O—H⋯O, N—H⋯O, N—H⋯N and O—H⋯N hydrogen bonds link 2,3-diamino­phenazine mol­ecules and water mol­ecules, forming a three-dimensional framework

catena-Poly[[bis­[(2-carboxy­benzoato-κO)silver(I)](Ag—Ag)]bis­(μ-isonicotinic acid-κ2 N:O)]

The title compound, [Ag(C8H5O4)(C6H5NO2)]n, contains one AgI atom, one phthalate ligand and one isonicotinic acid mol­ecule in the asymmetric unit. Each Ag atom is three-coordinated in a T-shaped geometry by two O atoms and one N atom from one phthalate ligand and two isonicotinic acid ligands. The isonicotinic acid ligand bridges two Ag atoms, forming a one-dimensional chain. Adjacent chains are linked by Ag—Ag inter­actions, leading to a double-chain. These double-chains are further linked via hydrogen bonds into a two-dimensional layer

Bis[3-(meth­oxy­carbon­yl)anilinium] hexa­chloridostannate(IV)

In the title compound, (NH3C6H4CO2CH3)2[SnCl6], the anions are situated on inversion centers so the asymmetric unit contains one cation and one half-anion. In the crystal, inter­molecular N—H⋯Cl and N—H⋯O hydrogen bonds link the cations and anions into layers parallel to the ac plane. The crystal packing exhibits voids of 37 Å3

catena-Poly[[bis­(μ-3-carboxy­benzoato)bis­(1,10-phenanthroline)tricopper(II)]-di-μ3-isophthalato]

The title copper coordination polymer, [Cu3(C8H4O4)2(C8H5O4)2(C10H8N2)2]n, was synthesized by reacting Cu(NO3)2, isophthalic acid and 1,10-phenanthroline under hydro­thermal conditions. The trinuclear unit presents a central almost planar CuO4 chromophore with the cation on a symmetry center, and two symmetry-related CuN2O3 groups with the metal centre in a distorted square-pyramidal environment. These units are bridged by isophthalate ligands into one-dimensional double-chain coordination polymers which are, in turn, connected by various π–π stacking inter­actions (face-to-face distance ca 3.45 Å) and O—H⋯O hydrogen bonds, forming a three-dimensional supra­molecular network

Aqua­(3-carboxybenzoato-κO 1)(nitrato-κO)(dipyrido[3,2-a:2′,3′-c]phenazine-κ2 N 4,N 5)copper(II)

The title complex, [Cu(C8H5O4)(NO3)(C18H10N4)(H2O)], was synthesized by reacting Cu(NO3)2, isophthalic acid and dipyridophenazine under hydro­thermal conditions. The CuII ion is in a slightly distorted square-pyramidal coordination environment. In the crystal structure, inter­molecular O—H⋯O hydrogen bonds connect complex mol­ecules into chains along [001]

Design Change Model for Effective Scheduling Change Propagation Paths

Changes in requirements may result in the increasing of product development project cost and lead time, therefore, it is important to understand how requirement changes propagate in the design of complex product systems and be able to select best options to guide design. Currently, a most approach for design change is lack of take the multi-disciplinary coupling relationships and the number of parameters into account integrally. A new design change model is presented to systematically analyze and search change propagation paths. Firstly, a PDS-Behavior-Structure-based design change model is established to describe requirement changes causing the design change propagation in behavior and structure domains. Secondly, a multi-disciplinary oriented behavior matrix is utilized to support change propagation analysis of complex product systems, and the interaction relationships of the matrix elements are used to obtain an initial set of change paths. Finally, a rough set-based propagation space reducing tool is developed to assist in narrowing change propagation paths by computing the importance of the design change parameters. The proposed new design change model and its associated tools have been demonstrated by the scheduling change propagation paths of high speed train’s bogie to show its feasibility and effectiveness. This model is not only supportive to response quickly to diversified market requirements, but also helpful to satisfy customer requirements and reduce product development lead time. The proposed new design change model can be applied in a wide range of engineering systems design with improved efficiency