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1.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-981134

RESUMO

There is a high incidence of chronic periapical periodontitis of deciduous teeth, however, there is a low incidence of the apical cyst. This paper reports a 7-year-old child with deciduous periodontitis caused by chronic periapical periodontitis of deciduous teeth. Through literature review, the etiology, imaging characteristics, diagnosis, differential diagnosis, and treatment methods were discussed to provide the basis for clinical diagnosis and treatment.


Assuntos
Criança , Humanos , Cistos , Diagnóstico Diferencial , Periodontite Periapical/terapia , Dente Decíduo
2.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-964656

RESUMO

Sunburn is an acute phototoxic reaction caused by excessive exposure of skin to solar ultravilet (UV) or artificial UV light sources. Studies show that sunburn is common in the general population, so that associated financial burden cannot be ignored. Meanwhile, sunburn at any age increases the risk of melanoma. Only by clarifying the influencing factors of sunburn can precise preventive measures be formulated. Although many studies have been conducted on the influencing factors of sunburn worldwide, there are great heterogeneity in reported influencing factors. In this paper, by means of systematic review, factors affecting sunburn were sorted out and summarized from four aspects, including demographic and socioeconomic characteristics, photosensitive phenotypes, UV-related environmental factors, and sun protection knowledge, attitude & behavior. Combined with population characteristics and data availability in China, our review provided reference for subsequent research and development of precise prevention and control strategies.

3.
Preprint em Inglês | bioRxiv | ID: ppbiorxiv-466863

RESUMO

mRNA vaccines can be developed and produced quickly, making them attractive for immediate outbreak responses. Furthermore, clinical trials have demonstrated rapid protection following mRNA vaccination. We sought to investigate how quickly mRNA vaccines elicit antibody responses compared to other vaccine modalities. We first examined immune kinetics of mRNA and DNA vaccines expressing SARS-CoV-2 spike in mice. We observed rapid induction of antigen-specific binding and neutralizing antibodies by day 5 following mRNA, but not DNA, immunization. The mRNA vaccine also induced increased levels of IL-5, IL-6 and MCP-1. We then evaluated immune kinetics of an HIV-1 mRNA vaccine in comparison to DNA, protein, and rhesus adenovirus 52 (RhAd52) vaccines with the same HIV-1 envelope antigen in mice. Induction of envelope-specific antibodies was observed by day 5 following mRNA vaccination, whereas antibodies were detected by day 7-14 following DNA, protein, and RhAd52 vaccination. Eliciting rapid humoral immunity may be an advantageous property of mRNA vaccines for controlling infectious disease outbreaks. IMPORTANCEmRNA vaccines can be developed and produced in record time. Here we demonstrate induction of rapid antibody responses by mRNA vaccines encoding two different viral antigens by day 5 following immunization in mice. The rapid immune kinetics of mRNA vaccines can be an advantageous property that makes them well suited for rapid control of infectious disease outbreaks.

4.
Preprint em Inglês | bioRxiv | ID: ppbiorxiv-456316

RESUMO

The CVnCoV (CureVac) mRNA vaccine for SARS-CoV-2 has recently been evaluated in a phase 2b/3 efficacy trial in humans. CV2CoV is a second-generation mRNA vaccine with optimized non-coding regions and enhanced antigen expression. Here we report a head-to-head study of the immunogenicity and protective efficacy of CVnCoV and CV2CoV in nonhuman primates. We immunized 18 cynomolgus macaques with two doses of 12 ug of lipid nanoparticle formulated CVnCoV, CV2CoV, or sham (N=6/group). CV2CoV induced substantially higher binding and neutralizing antibodies, memory B cell responses, and T cell responses as compared with CVnCoV. CV2CoV also induced more potent neutralizing antibody responses against SARS-CoV-2 variants, including B.1.351 (beta), B.1.617.2 (delta), and C.37 (lambda). While CVnCoV provided partial protection against SARS-CoV-2 challenge, CV2CoV afforded robust protection with markedly lower viral loads in the upper and lower respiratory tract. Antibody responses correlated with protective efficacy. These data demonstrate that optimization of non-coding regions can greatly improve the immunogenicity and protective efficacy of an mRNA SARS-CoV-2 vaccine in nonhuman primates.

5.
Chinese Journal of Biotechnology ; (12): 1443-1449, 2021.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-878646

RESUMO

We introduce the portfolio assessment into the classroom teaching reform in the curriculum of Cell Engineering, a specialty course in bioengineering & biotechnology. We established a complete classroom evaluation system that was divided the classroom assessment system of portfolio into four stages including the preparation stage, training stage, implementation stage and exhibition stage. We also discuss the feasibility and necessity of implementing the portfolio evaluation method in the course of cell engineering, the construction of evaluation system, and the key points and matters needing attention in the implementation process. The classroom reform is very productive, not only the classroom atmosphere has been activated, students' learning initiative and autonomy has been enhanced, but also the students' ability to analyze and solve professional problems related to cell engineering technology has been improved. The implementation of classroom teaching reform of this course can provide reference for other similar professional courses in colleges and universities.


Assuntos
Humanos , Engenharia Celular , Currículo , Aprendizagem , Estudantes , Universidades
6.
Preprint em Inglês | medRxiv | ID: ppmedrxiv-20176776

RESUMO

Effectively identifying COVID-19 patients using non-PCR clinical data is critical for the optimal clinical outcomes. Currently, there is a lack of comprehensive understanding of various biomedical features and appropriate technical approaches to accurately detecting COVID-19 patients. In this study, we recruited 214 confirmed COVID-19 patients in non-severe (NS) and 148 in severe (S) clinical type, 198 non-infected healthy (H) participants and 129 non-COVID viral pneumonia (V) patients. The participants clinical information (23 features), lab testing results (10 features), and thoracic CT scans upon admission were acquired as three input feature modalities. To enable late fusion of multimodality data, we developed a deep learning model to extract a 10-feature high-level representation of the CT scans. Exploratory analyses showed substantial differences of all features among the four classes. Three machine learning models (k-nearest neighbor kNN, random forest RF, and support vector machine SVM) were developed based on the 43 features combined from all three modalities to differentiate four classes (NS, S, V, and H) at once. All three models had high accuracy to differentiate the overall four classes (95.4%-97.7%) and each individual class (90.6%-99.9%). Multimodal features provided substantial performance gain from using any single feature modality. Compared to existing binary classification benchmarks often focusing on single feature modality, this study provided a novel and effective breakthrough for clinical applications. Findings and the analytical workflow can be used as clinical decision support for current COVID-19 and other clinical applications with high-dimensional multimodal biomedical features. One sentence summaryWe trained and validated late fusion deep learning-machine learning models to predict non-severe COVID-19, severe COVID-19, non-COVID viral infection, and healthy classes from clinical, lab testing, and CT scan features extracted from convolutional neural network and achieved predictive accuracy of > 96% to differentiate all four classes at once based on a large dataset of 689 participants.

7.
China Pharmacy ; (12): 2920-2925, 2019.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-817469

RESUMO

OBJECTIVE: To prepare Zingiber officinale oil microcapsules and to evaluate its quality. METHODS: Z. officinale oil microcapsules were prepared by spray drying method with sodium starch octenyl succinate as capsule material. The preparation technology was optimized by orthogonal test with mixing temperature of capsule material and capsule core, mass ratio of capsule material and capsule core, stirring speed as factors, using encapsulation efficiency as index. The drug loading, encapsulation efficiency, appearance, particle size distribution and stability of light, heat and humidity (using iodine value and peroxide value as indexes) were evaluated. RESULTS: The optimal preparation technology of Z. officinale oil microcapsules was that the mixing temperature of capsule material and core was 60 ℃; mass ratio of capsule material and capsule core was 10 ∶ 1; stirring speed was 12 000 r/min. Average drug-loading amount and encapsulation efficiency of Z. officinale oil microcapsules prepared by optimal technology were 17.97% and 73.57% (n=3). The morphology of Z. officinale oil microcapsules was round, smooth, non-sticky and uniform in size distribution. The average diameter of microcapsules was (6.30±0.27) μm. Under light, heat and humidity conditions, the iodine value and peroxide value of Z. officinale oil microcapsules changed slightly. CONCLUSIONS: The optimal preparation technology of Z. officinale oil microcapsules is simple and reproducible. The prepared microcapsules have good encapsulation efficiency, high drug loading amount and good stability.

8.
Chinese Journal of Hepatology ; (12): 557-560, 2018.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-810067

RESUMO

Glucocorticoids is a type of steroid hormone secreted from zona fasciculata of adrenal cortex.As an immune and inflammatory inhibitor, glucocorticoids has been used to treat many kinds of diseases.T cell response plays a crucial role in the pathogenesis of liver diseases. However, the role of glucocorticoids in the mechanism and treatment of liver disease in current clinical practice is controversial. This paper summarizes the progress of glucocorticoid use for the treatment of liver diseases in recent years. References will be provided for how to grasp the indications,application timing and proper dosage of glucocorticoids in liver diseases.

9.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-696473

RESUMO

Objective To investigate the effects of Rapamycin and mammalian target of rapamycin - small in-terfering RNA (mTOR siRNA)on the proliferation,apoptosis and collagen Ⅰ(COLⅠ),collagen Ⅲ(COLⅢ)and fi-bronectin(FN)in premature rats lung fibroblasts exposed to hyperoxia. Methods 900 mL/ L volume fraction of oxygen was used to establish hyperoxia - damaged cell models,and the premature rats lung fibroblasts were divided into air control group,hyperoxia group,hyperoxia + rapamycin group and mammalian target of rapamycin - small interfering RNA transfection group. Cell proliferation was assessed by using 3 -(4,5 - Dimethylthiazol - 2 - yl)- 2,5 - dipheny-ltetrazolium bromide assay. Apoptosis were detected by Annexin V - FITC and propidium lodide (PI)double staining. The expressions of COLⅠ,COLⅢ and fibronectin was assessed by using enzyme linked immunosorbent assay and Bcl - 2,P53 and pro - fibrotic factors of connective tissue growth factor(CTGF)and transforming growth factor β(TGF - β)by using Western blot. Results Compared with the air control group,the proliferation of lung fibroblasts decreased and the apoptosis increased in the hyperoxia group,while the contents of COLⅠ(28. 30 ± 0. 53 vs. 17. 43 ±0. 37),COLⅢ(27. 86 ± 1. 02 vs. 17. 43 ± 0. 37)and fibronectin(32. 87 ± 0. 42 vs. 21. 57 ± 0. 47),P53(0. 810 ± 0. 119 vs. 0. 160 ± 0. 018),TGF - β(0. 580 ± 0. 108 vs. 0. 210 ± 0. 008)and CTGF(0. 590 ± 0. 017 vs. 0. 220 ± 0. 007)were also increased but the expression of Bcl - 2(0. 150 ± 0. 004 vs. 0. 600 ± 0. 130)protein was decreased, and the differences were all statistically significant (all P < 0. 01). Compared with the hyperoxia group,the proliferation of lung fibroblasts was increased in the hyperoxia + rapamycin group,but the apoptosis was decreased,the contents of COLⅠ(23. 17 ± 0. 60 vs. 28. 30 ± 0. 53),COLⅢ(17. 09 ± 0. 58 vs. 27. 86 ± 1. 02)and fibronectin(28. 11 ± 0. 68 vs. 32. 87 ± 0. 42),P53(0. 430 ± 0. 008 vs. 0. 810 ± 0. 119),TGF - β(0. 380 ± 0. 008 vs. 0. 580 ± 0. 108)and CTGF (0. 040 ± 0. 006 vs. 0. 590 ± 0. 017)were decreased while the expression of Bcl - 2(0. 290 ± 0. 009 vs. 0. 150 ± 0. 004) protein was increased,and the differences were all statistically significant (all P < 0. 01). In the mTOR siRNA transfec-tion group,compared with the hyperoxia + rapamycin group,the proliferation of lung fibroblasts was increased,but the apoptosis was decreased;the contents of COLⅠ(15. 71 ± 0. 34 vs. 23. 17 ± 0. 60),COLⅢ (13. 85 ± 1. 36 vs. 17. 09 ± 0. 58)and fibronectin(20. 18 ± 0. 28 vs. 28. 11 ± 0. 68),P53(0. 300 ± 0. 006 vs. 0. 430 ± 0. 008),TGF - β(0. 150 ± 0. 002 vs. 0. 380 ± 0. 008)and CTGF(0. 140 ± 0. 004 vs. 0. 040 ± 0. 006)were decreased while the expression of Bcl - 2 (0. 460 ± 0. 012 vs. 10. 290 ± 0. 009)protein was increased,and the differences were all statistically significant (all P < 0. 01). Conclusion Rapamycin and mTOR siRNA can protect lung injury caused by hyperoxia and have a certain inhibitory effect on pulmonary fibrosis,and mTOR siRNA effect is more obvious,so the mechanism may be through the inhibition of mTOR signaling pathway.

10.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-807636

RESUMO

Objective@#To investigate whether N6-methyladenine DNA(6-mA DNA) modification is related to the occurrence of infantile hemangiomas (IH) at the epigenetic level.@*Methods@#The genomic 6-mA DNA data were obtained by MeDIP and high-throughput sequencing. The 6-mA DNA methylation levels in 3 proliferative hemangioma specimens and adjacent skin tissues were compared by u-test. The functional differences of 6-mA modified genes were analyzed by GO analysis.@*Results@#The level of 6-mA DNA modification in IH tissue was higher. The coverage of 6-mA Peaks in the genome was 0.037% in the tumor tissue, and the coverage of 6-mA Peaks in the surrounding skin tissue was 0.013% in the genome. The difference between the two groups was statistically significant (u=5999.87, P=0.00). The gene functions of differentially 6-mA modified genes in tumors were enriched in mesoderm development, stem cell differentiation, mesenchymal development, and cell cycle. These gene functions were closely related to the pathogenesis of IH.@*Conclusion@#Abnormal 6-mA DNA modification may be one of the pathogenesis of infantile hemangioma.

11.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-618497

RESUMO

Objective:To explore the biological effects of amino acid transporter gene SLC7A5 (solute carrier family 7,member 5) on tumor cells and the regulatory mechanism at transcriptional level.Methods:The expression of SLC7A5 was examined in human normal tissues and corresponding tumor tissues by Gene Expression Omnibus (GEO) database.The recombinant plasmid of SLC7A5 gene was constructed,and the effect of the SLC7A5 gene on tumor cell proliferation was investigated by methylthiazolyldiphenyl-tetrazolium bromide (MTT) and flow cytometry.SLC7A5 gene promoter and transcription factor binding sites were predicted through bioinformatics analysis,and the gene promoter recombinant plasmid was constructed.Then the dual luciferase reporter gene assay and reverse transcription polymerase chain reaction (RT-PCR) were used to explore the regulation of transforming growth factor-β1 (TGF-β1) signal on SLC7A5 gene expression.Results:The GEO database analysis showed that the distribution of SLC7A5 was tissue specific,and its expression level was significantly higher in the tumor tissues than that in the corresponding normal tissues.The results of MTT and flow cytometry showed that SLC7A5 could promote cell proliferation.Results from the promoter analysis,reporter gene assay and RT-PCR confirmed that TGF-β1 could up-regulate the activity of SLC7A5 promoter and promote the expression of the SLC7A5 gene.Conclusion:SLC7A5 gene plays a role in promoting tumor development,which is regulated by the TGF-β1 signaling pathway.

12.
Basic & Clinical Medicine ; (12): 422-426, 2017.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-510499

RESUMO

Respiratory depression is a common adverse effect of opioids .Currently, the mechanisms and manage-ment of opioid-induced respiratory depression ( OIRD) are one of the research foci .OIRD arises from stimulation ofμ-opioid receptors in the pre-Botzinger complex and the Kolliker-Fuse neurons .Adenylyl cyclase , calcium chan-nels, and G-protein-gated inwardly rectifying potassium (GIRK) channels may be the key cellular signaling mecha-nisms of OIRD .

13.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-510251

RESUMO

Acute leukemia is the most common malignant tumor in children in our country.Its pathogenesis includes transformation of proto oncogene,tumor suppressor gene distortion,inhibition of apoptosis etc..Under the action of carcinogenic factors,chromosome mutation,deletion,rearrangement or gene amplification can lead to the structural variation of proto oncogenes and tumor suppressor genes,resulting in a new fusion gene.Some of these genes are tran-scription factors regulating cell proliferation,differentiation,aging and death,when the gene is mutated,directly affect the downstream signaling pathways,leading to cell proliferation,apoptosis and enhanced (or)differentiation disorders, leading to leukemia.In recent years,with the development of gene sequencing technology,more and more leukemia prognostic genes have been displayed in public view and applied in clinical treatment and prognosis,relapse,etc..

14.
Fish Shellfish Immunol ; 49: 470-92, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26773859

RESUMO

MicroRNAs (miRNAs) play vital roles in diverse biological processes, including in immune response. Blunt snout bream (Megalobrama amblycephala) is a prevalent and important commercial endemic freshwater fish species in China's intensive polyculture systems. To identify immune-related miRNAs of M. amblycephala, two small RNA (sRNA) libraries from immune tissues with or without lipopolysaccharide (LPS) stimulation were constructed and sequenced using the high-throughput sequencing technology. Totally, 16,425,543 and 15,076,813 raw reads, corresponding to 14,156,755 and 13,445,869 clean reads, were obtained in the normal and infected libraries, respectively. A total of 324 miRNAs, including 218 known miRNAs and 106 putative novel miRNAs were identified by bioinformatic analysis. We analyzed differentially expressed miRNAs between two libraries using pairwise comparison. 113 (34.88%) miRNAs were found to be significantly differentially expressed between two libraries, with 63 (55.75%) exhibiting elevated expression in LPS stimulation sample. Thereinto, a number of known miRNAs were identified immune-related. Real-time quantitative PCR (RT-qPCR) were implemented for 12 miRNAs of two samples, and agreement was confirmed between the sequencing and RT-qPCR data. Target genes likely regulated by these differentially expressed miRNAs were predicted using computational prediction. The functional annotation of target genes by Gene Ontology enrichment (GO) and Kyoto Encyclopedia of Genes and Genomes pathway analysis (KEGG) indicated that a majority of differential miRNAs might involved in immune response. To our knowledge, this is the first comprehensive study of miRNAs in response to LPS stimulation in M. amblycephala, even in fish. These results deepened our understanding of the role of miRNAs in the intricate host's immune system, and should be useful to develop new control strategies for host immune defense against various bacterial invasions in M. amblycephala.


Assuntos
Cyprinidae/genética , Cyprinidae/imunologia , Sistema Imunitário , MicroRNAs/genética , MicroRNAs/imunologia , Animais , Biologia Computacional , Cyprinidae/metabolismo , Biblioteca Gênica , Sistema Imunitário/imunologia , Reação em Cadeia da Polimerase em Tempo Real/veterinária , Análise de Sequência de RNA/veterinária
15.
Chinese Journal of Anesthesiology ; (12): 1473-1475, 2015.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-491399

RESUMO

Objective To compare remifentanil?propofol target?controlled infusion ( TCI ) with sufentanil?propofol TCI for sedation and analgesia in the patients undergoing local anesthesia. Methods Sixty patients, aged 17?54 yr, with body mass index 0?? 05). Conclusion Remifentanil?propofol TCI provides similar sedative and analgesic efficacy to that a?chieved by sufentanil?propofol TCI in the patients undergoing local anesthesia.

16.
China Medical Equipment ; (12): 19-20,21, 2015.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-601485

RESUMO

Objective: Develop a kind of portable negative pressure calibrator by the design and implement of method. Methods:By the working principle of negative pressure sensor and gas flow sensor, the negative pressure aspirator realizes the calibration function and stability of the monitoring function of the pressure and flow. Results:Stating from the design concept, this portable negative pressure can satisfy the requirement of the quality control and test work. Conclusion:Guarantee the accuracy and efficiency in the clinical first aid and field battle when using attractor. This avoids attractor of iatrogenic injury accident caused by negative pressure fall off.

17.
Chongqing Medicine ; (36): 470-471,474, 2015.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-600678

RESUMO

Objective To observe the clinical curative effect of ginseng cream stickon in patients suffering from lack of lactation after parturition .Methods Ninety patients suffering from lack of lactation after parturition were divided into three groups :the treatment group (patients with ginseng cream stick by acupoint application ) ,and 2 control groups (control with lactation elixir ,and control with decavitamin) .The treatment last for 5 days for each group .And the breast filling degree ,the lactigenous volume ,the neonatal weight ,artificial feeding times ,the artificial feeding volume and the prolactin level before and after the treatment were all recorded .Results Ginseng cream stick by acupoint application dramatically improved breast filling ,the lactigenous volume ,the neo‐natal weight ,artificial feeding times ,the artificial feeding volume and the neonatal urination frequency ,there was a significant differ‐ence between the treatment group and the two control groups (P<0 .05) .Conclusion Ginseng cream stick by acupoint application could significantly relieve lack of lactation ,meet the need of breastfeeding ,and increase the breast‐feeding rate .

18.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-465336

RESUMO

BACKGROUND:Biological dressing A (porcine Xenoderm) and Physiotule Ag (Coloplast) show good effects on the absorption of exudates, adhesion and anti-bacteria in treatment of degree Ⅱ facial burns. OBJECTIVE:To observe the effectiveness of biological dressing Aversus Physiotule Ag after early debridement of degree Ⅱ facial burns. METHODS:A total of 15 patients with superficial degree Ⅱ facial burn and 10 patients with deep degree Ⅱ facial burns were included. Symmetric facial area of the same patient with the same depth of burn was divided into two parts of same size for treatments. One side was randomly selected as the experimental side, and treated with biological dressing A. The other was selected as the control side and treated with Physiotule Ag. We compared wound healing time, infection, times of changing dressings, skin after healing, drug change comfort and dressing comfort between the two sides. RESULTS AND CONCLUSION:In patients with superficial grade Ⅱ facial burn, times of changing dressings and drug change comfort were better in the experimental side than in the control side (P < 0.05), but the dressing comfort was better in the control side than the experimental side (P< 0.05). No significant difference in wound healing time, infection and skin after healing was detected between the two sides. In patients with deep degree Ⅱ facial burns, wound healing time, times of changing dressings, skin after healing and drug change comfort were better in the experimental side than in the control side (P < 0.05), but the dressing comfort was better in the control side than the experimental side (P< 0.05). No significant difference in infection was detectable between the two sides. Above findings suggested that the therapeutic effects of biological dressing A and Physiotule Ag were similar in treatment of degree Ⅱ facial burns. Biological dressing A in repair of deep degree Ⅱ facial burns promotes the wound healing andelevates the quality of healing.

19.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-458083

RESUMO

Objective To investigate the prevalence and characteristics of GJB2 mutations in Uygur,Hui, Kazak and Kirgiz ethnic patients with non-syndromic hearing loss(NSHL)from the Xinjiang Uygur Autonomous Region of China.Methods With the permission,we collected 565 patients with moderately severe to profound sen-sorineural hearing loss,including Uygur,Hui,Kazak and Kirgiz ethnic minorities from 14 cities of Xinjiang.Pe-ripheral blood samples were obtained to extract genomic DNA.The SNP classification technology was for common pathogenic GJB2 gene mutations.ResuIts The pathogenic allele frequency of GJB2 gene were 10.16%(87/856 ), 15.85%(13/82),10.16%(13/128),1.56%(1/64)in the NSHL patients of Uygur,Hui,Kazak and Kirgiz minori-ties,respectively.And these differences were statistically significant (χ2 =8.140,P=0.043).c.235delc was only found in the Uygur and Hui with the allele frequency of 5.14 %(44/856)and 13.41 %(11/82),respectively.And c.35delG was found in Uyhur,Hui,Kazak and Kirgiz with allele frequencies were 3.15% (27/856),1.21% (1/82),8.59%(11/128)and 1.56% (1/64),respectively.ConcIusion GJB2 gene mutations had a higher incidence in Xinjiang NSHL patients,GJB2 gene mutation spectrum had differences in Uygur,Hui,Kazak and Kirgiz,c. 235delC the hotspot mutation region in Uygur and Hui nationalities NSHL patients,while c.35delG is the hotspot mutation region in NSHL patients of Uygur,Kazak and Kirgiz ethnicities.

20.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-441462

RESUMO

Objective To investigate the prevalence of GJB2 ,SLC26A4 and mitochondrial DNA 12S rRNA m .1555A>G(mtDNA 1555A>G) mutations in Hui ethic group patients with nonsyndromic hearing loss (NSHL) from Northwest China .Methods A total of 420 peripheral blood samples were collected from unrelated Hui ethic group probands with NSHL in Northwest China .Amplified the target gene by polymerase chain reaction (PCR) af-ter extracting genomic DNA from whole blood .The mtDNA 1555A>G mutation was detected by PCR -Alw26I di-gestion ,then direct sequencing was used to the positive samples of mtDNA 1555A> G ,the coding region of GJB2 gene ,exon 8 and 19 of SLC26A4 gene .Results There were 11(2 .62% ) cases caused by mtDNA 1555A>G homo-zygous mutation in 420 patients with NSHL .There were 41(9 .76% ) cases including homozygote and compound het-erozygote ,caused by GJB2 gene mutation ,which was the most frequent deafness -related gene .The allel frequency of c .235delC accounted for 6 .90% ,as well as the most frequent(51 .33% ) mutational pattern in GJB2 gene .There were 20 patients(4 .76% ) were found carring two allel mutations in SLC26A4 gene .The allel frequency of c .919 -2A>G was 5 .0% ,accounting for a total of 68 .85% in all base alterations of SLC26A4 gene ,which was the major mutant form of SLC26A4 gene .Conclusion GJB2 gene is the most common deafness -gene in Hui ethnic group pa-tients with NSHL from Northwest China ,while c .235delC is the main mutant form ,and c .919-2A>G is the hot-spot mutation of SLC26A4 gene .Through this study we can provide the molecular epidemiology basis for Hui ethnic group patients with NSHL from Northwest China in genetic diagnosis ,genetic counseling and therapy by associated testing of three frequent hearing loss genes .

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