[Analysis of deafness gene variant screening of 7875 neonatal cases in Dongying area of Shandong].

OBJECTIVE: To determine the types and frequency of deafness-related variants among 7875 newborns from Dongying area of Shandong Province. METHODS: One hundred loci of 18 common deafness genes were subjected to semiconductor sequencing. Variant site, frequency and distribution of the variants were analyzed. RESULTS: In total 552 deafness gene variants were detected among the 7875 newborns, which yielded a detection rate of 7.01%. Among these, common variant sites for GJB2, SLC26A4 and GJB3 genes were c.235delC, IVS7-2A>G and c.538C>T, respectively. The variant frequencies of matrilinear inheritance deafness genes MT-CO1, MT-RNR1, MT-TL1 and MT-TS1 were 0.38%, 0.25%, 0.1% and 0.01%, respectively. Four newborns were diagnosed with deafness, among which one had unilateral hearing loss. Analysis of the proportions of neonatal deafness-related variants in five counties of Dongying showed that the highest variant rate for the SLC26A4 gene compared with GJB2 was in Lijin county (51.76% vs. 40%), while the lowest was in Hekou county (30.77% vs. 56.41%). CONCLUSION: The carrier rate of deafness-related variants in Dongying area is higher than other regions of China, which may be attributed to the increased types and variant sites covered by the semiconductor sequencing method compared with the chip method and time-of-flight mass spectrometry. Due to geographical and population aggregation factors, the proportion of deafness variants in the five counties of Dongying differed significantly. Above results may provide a guide for the prevention of congenital deafness in Dongying area.

Provenance tracing of Nd isotopes of sandstorm in Harbin, Heilongjiang province and analysis of its tracks.

The present study analyzed sandstorms in Harbin, a city in Heilongjiang province in northeastern part of China. Based on the available ground observation data from meteorological stations in Harbin from 1961 to 2010, investigation was conducted for temporal and spatial distribution characteristics and weather conditions. 48 samples of dust collected from two sites were studied in laboratory. By testing the major and trace elements in samples collected, along with Nd isotope content, the component characteristics of these samples was determined. Annual change in law of sandstorm occurrence was found. Increase in occurrence of dust and sand was particularly obvious since 21st century. Occurrence of sandstorm frequency in different seasons was not same. It was high during spring and fall while low during summer and winter. Occurrence of sandstorm in Harbin was potentially related to direction of strong-wind, and winds from southwest was predominant; Horqin sandy land and Otindag sandy land was deemed as far-forth mass source, and the farmland and desertification area around Harbin was near-source.

Discussion on the sedimentary structure, geochemical characteristics and sedimentary environment of Ping Chau formation at Tung Ping Chau, Hong Kong.

Ping Chau Formation has long been regarded as the youngest formation in Hong Kong since its emergence from Tung Ping Chau, an island on the northeast of Mirs Bay of New Territories. On the basis of field survey, the present study re-collates and re-stipulates typical sedimentary structure and sedimentary environment of Ping Chau Formation at Tung Ping Chau. Furthermore, with combination of geochemical laboratory methods for the first time a systematic analysis of the major and trace elements of Ping Chau Formation, and geochemical characteristics of rare earth elements were studied. The results showed that: Ping Chau Formation was formed in a passive continental margin structural environment; the study area belonged to transition facies ranging from brackish water to fresh water, with salinity increase from bottom to top on the profile showing a tendency of gradual salinization, The sedimentary environment of Ping Chau Formation had an anoxic reducing environment; The study concluded that Ping Chau Formation was formed in a reducing environment of brackish water or shore-shallow lake with low salinity.

NR4A1 enhances MKP7 expression to diminish JNK activation induced by ROS or ER-stress in pancreatic ß cells for surviving.

Under adverse conditions, such as sustained or chronic hyperglycemia or hyperlipidemia, ROS (reactive oxygen species) or/and ER-stress (endoplasmic reticulum stress) will be induced in pancreatic ß cells. ROS or ER-stress damages ß-cells even leads to apoptosis. Previously we found ROS or ER-stress resulted in JNK activation in ß cells and overexpressing NR4A1 in MIN6 cells reduced JNK activation via modulating cbl-b expression and subsequent degrading the upstream JNK kinase (MKK4). To search other possible mechanisms, we found the mRNA level and protein level of MKP7 (a phosphatase for phospho-JNK) were dramatic reduced in pancreatic ß cells in the islets from NR4A1 KO mice compared with that from wild type mice. To confirm what we found in animals, we applied pancreatic ß cells (MIN6 cells) and found that the expression of MKP7 was increased in NR4A1-overexpression MIN6 cells. We further found that knocking down the expression of MKP7 increased the p-JNK level in pancreatic ß cells upon treatment with TG or H2O2. After that, we figured out that NR4A1 did enhance the transactivation of the MKP7 promoter by physical association with two putative binding sites. In sum, NR4A1 attenuates JNK phosphorylation incurred by ER-stress or ROS partially via enhancing MKP7 expression, potentially decreases pancreatic ß cell apoptosis induced by ROS or ER-stress. Our finding provides a clue for diabetes prevention.