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Objective Defects in the human solute carrier family 26 member 4 (SLC26A4) gene are reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify SLC26A4 mutations in Chinese patients with CH and analyze the function of the mutations. Methods 273 patients with primary CH were screened for 21 CH candidate genes mutations by targeted next-generation sequencing. All the exons and exon-intron boundaries of SLC26A4 were found and analyzed. The function of 6 missense mutation in SLC26A4 were further investigated in vitro. Results Among 273 patients with CH, 7 distinct SLC26A4 heterozygous mutations (p.S49R, p.I363L, p.R409H, p.T485M, p.D661E, p.H723R, c.919-2A>G) were identified in 10 patients (3.66%, 10/273). In vitro experiments showed that mutation p.I363L, p.R409H,p.H723R affect the membrane location and ion transport of SLC26A4, ,while p.S49R did not.Mutation p.T485M and p.D661E only affect the ion transport, but has no effect on the membrane location. Conclusion Our study indicated that the prevalence of SLC26A4 mutations was 3.66% in the Chinese patients with CH. Five mutations (p.I363L, p.R409H, p.T485M, p.D661E and p.H723R) impaired the membrane location or ion transport function of SLC26A4，which revealed important role of the Ile363,Arg409, Thr485, Asp661, His723 residues in function of SLC26A4. Because these mutations are heterozygous mutations, the pathogenesis of these patients cannot be explained, and the pathogenesis of these patients needs further study.

Defects in the human solute carrier family 26 member 4 (Patients with primary CH were screened for 21 CH candidate genes mutations by targeted next-generation sequencing. All the exons and exon-intron boundaries ofAmong 273 patients with CH, seven distinctThe prevalence of

Background Androgen insensitive syndrome (AIS) is a rare genetic disease resulting from androgen receptor (AR) mutations and one of the causes of 46, XY disorder of sexual development (DSD). This study aimed to describe the clinical features and molecular defects of 36 Chinese patients with AR variants and investigate the functional alterations of novel variants in vitro. Material and methods Subjects with AR variants were identified from 150 Chinese 46, XY DSD patients using targeted next-generation sequencing. In-silico and functional assays were performed to evaluate the transcriptional activity and nuclear localization of novel AR variants. Results Eight novel and fifteen reported AR variants were identified. 30.6% (11/36) of patients harbored additional variants other than AR. Mutations in the Arg841 residue were found in 7 unrelated patients. Postpubertal serum gonadotropin levels were significantly elevated in patients with complete AIS (CAIS) compared with those in patients with partial AIS (PAIS) (P Conclusions Compared with PAIS patients, postpubertal CAIS patients had higher gonadotropin levels. Arg841 was disclosed as the location of recurrent mutations in Chinese AIS patients. Functional assays are important for reclassifying the novel AR variants and re-examining the diagnosis of AIS in specific patients with oligogenic mutations, instead of in-silico analysis.

This paper presents an Electric bicycle controller,which is designed on the basis of Programmable System-On-Chip used in BLDCM. The system structure is described. The software and drive circuit are designed. Several modules integrated in PSOC,such as PWM,AD and timer modules,are used to Electric bicycle controller the brushless DC motor can be controlled by PWM output with the help of HALL-position sensors.

Designed a Control Technology in Coal Handling System of Xinji Cogeneration Power Plant, the advanced nuclear scale is to measure the instantaneous flow of two coal conveyor belt, The coal plow and the belt switch signal is collected. Depending on the signal , the coal is accumulated to the different coal bunker. Two belts of coal was send to five different the coal bunker and was accumulated, this is conducive to the analysis of the economic indicators, so to achieve the purpose of power plant energy consumption.

Design a system of PCB engraving machine using MCU. Design in detail mechanical structure and the system scheme of the engraving machine. Write a software which can converse the file of PCB drawing software output to program for SCM and exchange data between PC and SCM. Choose the right step motor and design driven circuit of step motor.

We designed a set of non-destructive system which is based on ray inspection systems, it mainly used to detect the Green Channel Cargo, and the result will be given out within 30 seconds. The ray coefficient of the Green Channel Cargo are different from the other transport cargo, so we can measure the absorption coefficient and compare it with the standard samples which is pre-built. The moved radioactive source and detector are designed, in order to prevent the mixed goods, we designed the removable radioactive sources and detectors, so the goods can be scanned up and down and around. Once the goods are mixed together, the ray coefficient which is calculated synchronously will be abnormal, parking and manual inspection is a supplementary means, so as to achieve a low-cost non-destructive testing.

We have previously shown that the expression of glucosylceramide synthase (GCS) gene in drug-resistant K562/AO2 human leukemia cell was higher than that in drug-sensitive K562 cell, and the sensitivity to adriamycin of K562/AO2 cell was enhanced by inhibiting GCS. It is concluded that the overexpression of GCS gene is one of the reasons which lead to multidrug resistance (MDR) of leukemia cell. Meanwhile, we also found that higher expression of Bcl-2 gene and protein were exhibited in K562/AO2 cell compared with K562 cell. Basing on this, we hypothesized that the high expression of GCS gene which results in MDR of leukemia cell is correlated with Bcl-2 signal transduction. In order to validate the hypothesis, the inhibition of GCS gene in K562/AO2 cell was observed by using chemical suppressor PPMP and siRNA targeted at GCS, and applying RT-PCR and flow cytometry, the expression levels of apoptosis-related gene Bcl-2 and Bax were analyzed before and after inhibiting GCS gene in K562/AO2 cell. The results demonstrated that the gene and protein of Bcl-2 in K562/AO2 cell were both down-regulated significantly after GCS gene being inhibited; however, the Bax mRNA expression had no apparent change in different groups. This suggested that GCS gene may contributed to MDR of human leukemia cell K562/AO2 by Bcl-2 signal transduction.

The mixed solutions of brilliant blue and indigotine are prepared and the fluorescence spectra of them are experimentally measured. The serious overlapping spectra of brilliant blue and indigotine are solved by means of the first-derivative fluorescence spectrometry. The wavelet coefficients, obtained by compressing the spectral data using wavelet transformation (WT), are taken as inputs to establish the radial basis function neural network (RBFNN). The neural network model can realize simultaneous determination of brilliant blue and indigotine, and the mean relative errors of both compounds are 1.84% and 1.26%, respectively.

The fluorescence excitation spectra and absorption spectra of six kinds of erythrosine solutions with concentrations of 10, 20, 30, 40, 50 and 60 microg x mL(-1) were experimentally measured. It was found that the fluorescence excitation peaks are both located at 530 nm significantly when the concentrations of erythrosine solutions are 10 and 20 microg x mL(-1). However, the linetype saltation of fluorescence excitation spectrum occurs as the concentration of erythrosine solution is above 30 microg x mL(-1). The valley is located at 530 nm and two new peaks appear at both flanks of the valley. Compared with fluorescence excitation spectra, the absorption spectra of erythrosine solutions are without saltation and the peaks are all located at 530 nm. According to calculations and a series of contrast experiments, it was demonstrated that the absorption characteristic of erythrosine and the spectral measurement mode conspire to cause the saltation of fluorescence excitation spectra. The results can provide guidance for further research on physical and chemical properties of erythrosine, and offer help and reference for study on saltation behavior in fluorescence excitation spectra and improvement in spectral measuring mode.

Ceramide, as a second messenger, initiates one of the major signal transduction pathways in tumor apoptosis. Glucosylceramide synthase (GCS) catalyzes glycosylation of ceramide and produces glucosylceramide. Through GCS, ceramide glycosylation allows cellular escape from ceramide-induced programmed cell death. Here we investigated the expression of GCS in human leukemia cells and an association between GCS and multidrug resistance of leukemia cells. Using RT-PCR technique the level of GCS gene was detected in 65 clinical multidrug resistance/non-resistance cases with leukemia, and in K562 and K562/A02 cell lines. AlamarBlue Assay was applied to confirm the multidrug resistant of K562/A02 cells. PPMP, which is a chemical inhibitor for GCS, was used to determine the relationship between GCS and drug-resistance in K562/A02 cells. In addition, multidrug resistance gene (mdr1), Bcl-2 and Bax mRNA was also analyzed by RT-PCR. The expression of GCS and mdr1 mRNA in clinic multidrug resistance samples exhibited significantly increased compared with clinic drug sensitive group (P0.05). There was the positive correlation both the expression of GCS and mdr1 genes in leukemia samples (P0.01, gamma=0.7). AlamarBlue Assay showed that the K562/A02 cell line was 115-fold more resistant to adriamycin and 36-fold more resistant to vincristine compared with drug-sensitive K562 cell line. There also was significant expression difference of GCS and mdr1 genes between K562 and K562/A02 cells. Bcl-2 gene exhibited higher expressions whatever in clinic drug-resistance samples or K562/A02 cells, whereas the expressions of Bax gene were higher in drug-sensitive samples and K562 cells. PPMP increased sensitivity to adriamycin toxicity by inhibiting GCS in K562/A02 cells. Therefore, it is suggested that a high level of GCS in leukemia is possible contributed to multidrug resistance of leukemia cells. Abnormally expressions of the genes in associated with cell apoptosis might be one of the main molecular pathology mechanisms of multidrug resistance caused by GCS gene.