Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic disorder that affects melanin synthesis. OCA results in reduced or absent pigmentation in the hair, skin and eyes. Type 1 OCA (OCA1) is the result of tyrosinase (TYR) gene mutations and is a severe disease type. This study investigated TYR mutations in a Chinese cohort with OCA1. This study included two parts: patient genetic study and prenatal genetic diagnosis. A total of 30 OCA1 patients were subjected to TYR gene mutation analysis. Ten pedigrees were included for prenatal genetic diagnosis. A total of 100 unrelated healthy Chinese individuals were genotyped for controls. The coding sequence and the intron/exon junctions of TYR were analysed by bidirectional DNA sequencing. In this study, 20 mutations were identified, four of which were novel. Of these 30 OCA1 patients, 25 patients were TYR compound heterozygous; two patients carried homozygous TYR mutations; and three were heterozygous. Among the ten prenatally genotyped fetuses, three fetuses carried compound heterozygous mutations and seven carried no mutation or only one mutant allele of TYR and appeared normal at birth. In conclusion, we identified four novel TYR mutations and showed that molecular-based prenatal screening to detect TYR mutations in a fetus at risk for OCA1 provided essential information for genetic counselling of couples at risk.

Nowadays, a highly integrated valve-controlled cylinder (HIVC) is applied to drive the joints of legged robots. Although the adoption of HIVC has resulted in high-performance robot control, the hydraulic force system still has problems, such as strong nonlinearity, and time-varying parameters. This makes HIVC force control very difficult and complex. How to improve the control performance of the HIVC force control system and find the influence rule of the system parameters on the control performance is very significant. Firstly, the mathematical model of HIVC force control system is established. Then the mathematical expression for parameter sensitivity matrix is obtained by applying matrix sensitivity analysis (PSM). Then, aimed at the sinusoidal response under (three factors and three levels) working conditions, the simulation and the experiment are conducted. While the error between the simulation and experiment can't be avoided. Therefore, combined with the range analysis, the error in the two performance indexes of sinusoidal response under the whole working condition is analyzed. Besides, the sensitivity variation pattern for each system parameter under the whole working condition is figured out. Then the two sensitivity indexes for the three system parameters, which are supply pressure, proportional gain and initial displacement of piston, are proved experimentally. The proposed method significantly reveals the sensitivity characteristics of HIVC force control system, which can make the contribution to improve the control performance.

With the rapid development of modern industry, more and more high requirements for forging velocity and control precision have been proposed. Because it can not only increase productivity, but also can reduce the loss of the workpiece and save raw materials. Due to some characteristics such as high pressure, large flow, heavy moving inertia and so on, the process control performance of the fast forging hydraulic presses often have difficulty in their coordination between rapidity and stability, large shock during pressure relief and flow relief, low control accuracy and high accident rate. To overcome the negative influence and improve forging press performance, it is important to design forging curve. 22MN fast forging hydraulic press adopts electro-hydraulic proportional control system, the simulation and test results approved that the fast forging hydraulic press has high control accuracy and works stably without shock.

100nm thin Mg/B precursor films were prepared on SiC substrates in ZZSX-500 vacuum coating machine. They were annealed by electron-beam(EB) which only took fractions of a second. In this paper the best annealing duration to fabricate the superconducting MgB2 thin films was investigated. Under the optimized annealing condition(accelerating voltage 15kV, electron beam current 5mA, annealing duration 0.7s), the superconducting MgB2 thin film with critical temperature Tconset~35.3 K and transition width ∆Tc~1K was fabricated. Besides that, a nano-bridge (about 100×200nm2) was etched on the superconducting MgB2 thin film by Focused Ion Beam (FIB). It’s a relative simple and efficient method. The nano-bridge exhibited the effect of Josephson junction with RSJ characteristics. At the same time a little loss of superconducting property was detected.

The wind energy can be transferred through an intermediate medium such as hydraulic fluids. In this paper a hydraulic system is utilized to transfer the wind energy from a wind turbine to a synchronous generator. A close loop hydraulic transfer system with fixed displacement pump and variable displacement motor is introduced and the mathematical model is obtained. The simulation of the hydraulic wind turbine is derived by using the SimHydraulics toolbox of MATLAB and AMESim. The simulation results demonstrate the effectiveness of the modeling and are useful to design the control system.