Rapid detection of PAH gene mutations in Chinese people.

Background: Phenylketonuria (PKU) is an autosomal recessive genetic disease, caused by the phenylalanine hydroxylase (PAH) deficiency in the metabolic pathway, which prevents phenylalanine from being converted into tyrosine, leading to a large amount of phenylalanine discharged from the urine. Therefore, it is necessary to establish a simple, fast, accurate and reliable PKU molecular diagnostic method for clinical diagnosis.

Methods: We established a novel diagnostic method by combining a single-tube multiplex PCR technique with molecular hybridization technique.

Precise Molecular Fission and Fusion: Quantitative Self-Assembly and Chemistry of a Metallo-Cuboctahedron.

Inspiration for molecular design and construction can be derived from mathematically based structures. In the quest for new materials, the adaptation of new building blocks can lead to unexpected results. Towards these ends, the quantitative single-step self-assembly of a shape-persistent, Archimedean-based building block, which generates the largest molecular sphere (a cuboctahedron) that has been unequivocally characterized by synchrotron X-ray analysis, is described.

Towards molecular construction platforms: synthesis of a metallotricyclic spirane based on bis(2,2':6',2"-terpyridine)RuII connectivity.

The design and construction of the first multicomponent stepwise assembly of a -based (tpy=terpyridine), three-dimensional, propeller-shaped trismacrocycle, 8, are reported. Key steps in the synthesis involve the preparation of a hexaterpyridinyl triptycene and its reaction with dimeric, 60°-directional, bisterpyridine-Ru(II) building blocks. Characterization includes ESI- and ESI-TWIM-MS and TEM, along with 1D and 2D (1) H NMR spectroscopy.

Construction of a highly symmetric nanosphere via a one-pot reaction of a tristerpyridine ligand with Ru(II).

A three-dimensional, highly symmetric, terpyridine-based, spherical complex was synthesized via the coordination of four novel, trisdentate ligands and six Ru(2+) ions, and it exhibits excellent stability over a wide range of pH values (1-14). Structural confirmation was obtained by NMR and ESI-TWIM-MS.

A series of rare earth complexes with novel non-interpenetrating 3D networks: synthesis, structures, magnetic and optical properties.

A series of metal-organic framework {Ln(BCPBA)(H2O)}n {Ln = Nd (1), Sm (2), Eu (3), Tb (4), Dy (5)}; {[Ln(BCPBA)(H2O)](H2O)}n {Ln = Pr (6), Gd (7)} have been synthesized through the hydrothermal synthesis method. These compounds possess non-interpenetrating 3D networks with 10.1438 Å× 17.