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OBJECTIVE@#To determine the carrier rate of deafness-related genetic variants among 53 873 newborns from Zhengzhou.@*METHODS@#Heel blood samples of the newborns were collected with informed consent from the parents, and 15 loci of 4 genes related to congenital deafness were detected by microarray.@*RESULTS@#In total 2770 newborns were found to carry deafness-related variants, with a carrier rate of 5.142%. 1325 newborns (2.459%) were found to carry heterozygous variants of the GJB2 gene, 1071 (1.988%) were found with SLC26A4 gene variants, 205 were found with GJB3 gene variants (0.381%), and 120 were found with 12S rRNA variants (0.223%). Five newborns have carried homozygous GJB2 variants, two have carried homozygous SLC26A4 variants, five have carried compound heterozygous GJB2 variants, and four have carried compound heterozygous SLC26A4 variants. 33 neonates have carried heterozygous variants of two genes at the same time.@*CONCLUSION@#The carrier rate of deafness-related variants in Zhengzhou, in a declining order, is for GJB2, SLC26A4, GJB3 and 12S rRNA. The common variants included GJB2 235delC and SLC26A4 IVS7-2A>G, which are similar to other regions in China. To carry out genetic screening of neonatal deafness can help to identify congenital, delayed and drug-induced deafness, and initiate treatment and follow-up as early as possible.
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Objective@#To screen the deferentially expressed proteins in hippocampus and striatum in rat models of diabetes mellitus and normal SD rats, and to elucidate the effects of hyperglycemia on central nervous system.@*Methods@#SD rats were randomly divided into normal group(n=10)and hyperglycemia group(n=15); rat models of diabetes were induced by the high-fat and high-sugar diet combined with single intraperitoneal injection of streptozotocin. The hippocampus and striatum tissues from hyperglycemia rat and normal SD rat(control group) were selected as specimens. Isobaric tags for relative and absolute quantification(iTRAQ) technique and 2-dimensional liquid chromatography-tandem mass spectrometry(2D-LC-MS/MS) were used for identifying the deferentially expressed proteins. The deferentially expressed proteins were analyzed by bio-informatics for searching candidate proteins.Finally, the candidate proteins were verified by Western blotting.@*Results@#A total of 347 proteins showed significantly different expressions, which included 139 up-regulated proteins and 289 down-regulated proteins. These proteins included metabolic glutamate receptor 2, ferritin, leucine repeat protein and complex 2, which are related to Parkinson′s disease. KEEN search indicated that the pathway of dopaminergic synaptic, complement, gap junction, autophagic and Fcgamma R-mediated phagocytosis were involved with these significant differentially expressed proteins. The protein interaction network showed that ferrin, aldehyde/ketone reductase(ARK), Ca2+ -binding protein(CaBP), and protein tyrosine phosphatase(PTP) were located at the crossed nodes. The expression levels of ferrin, ARK, PTP, and CaBP, which were verified by Western blotting, and the results were consistent with those of the quantitative mass spectrometry(P<0.05).@*Conclusion@#Deferentially expressed proteins in hippocampus striatum of diabetic rats can be effectively screened by iTRAQ technique combined with 2D-LC-MS/MS. It may provide new clues for the mechanism of neurodegenerative disease.
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Objective To explore the relationship of leptin,leptin receptor and esophageal squamous cell carcinoma,and provide a scientific basis for prevention and treatment of esophageal cancer.Methods Samples were collected from 32 patients with esophageal squamous cell carcinoma,20 healthy control subjects in Shanxi Tumor Hospital.ELISA and immunohistochemistry were used to analyze leptin and leptin receptor,respectively.The correlation between their expression and clinicopathologieal parameters was also analysized.Results Patients with esophageal squamous cell carcinoma had significandy(t =4.64,P ＜ 0.001)higher leptin levels [(4.7 ±1.9)ng/ml] compared with normal [(2.54±1.01)ng/ml] oesophagus tissues.The expression rate of leptin receptor in esophageal carcinoma and normal esophagus was 81.25 ％ and 75.00 ％ respectively,not differ significantly.The expression levels of leptin was associated with position,(l)ymphatic metastasis.Conclusion Higher leptin levels seem to represent an additional,independent risk factor for esophageal squamous cell carcinoma,leptin receptor expression on oesophageal epithelial cells provides a pathway for leptin-mediated signal transduction.