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新疆维吾尔族及汉族常见耳聋基因热点突变调查结果分析比较 被引量:12
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作者 孙捷 陈俞 +1 位作者 张华 温浩 《中华耳科学杂志》 CSCD 北大核心 2017年第2期229-233,共5页
目的探讨新疆地区维吾尔族和汉族常见耳聋基因流行病学的差异。方法本文针对新疆地区2731例非综合征型重度、极重度感音神经性耳聋患者,应用晶芯耳聋基因试剂盒,对GJB2、SLC26A4、线粒体12Sr RNA、GJB3常见耳聋基因的10个突变位点(GJB2c... 目的探讨新疆地区维吾尔族和汉族常见耳聋基因流行病学的差异。方法本文针对新疆地区2731例非综合征型重度、极重度感音神经性耳聋患者,应用晶芯耳聋基因试剂盒,对GJB2、SLC26A4、线粒体12Sr RNA、GJB3常见耳聋基因的10个突变位点(GJB2c.235del C、c.35del G、c.176del16bp、c.299_300del AT,SLC26A4 IVS7-2、c.2168A>G,GJB3 c.538C>T、c.547G>A,mitochondrial 12Sr RNA m.1555A>G、m.1494C>T)进行常见已知耳聋基因的抽样调查;结果 2731例新疆地区非综合征型重度、极重度感音神经性耳聋患者中,GJB2基因突变率7.84(214/2731),汉族10.56%(131/1241)、维吾尔族5.57%(83/1490),普遍低于全国其他研究报道,GJB2 c.235del C是汉族和维吾尔族突变热点;检出携带有SLC26A4基因突变的有132例,SLC26A4汉族、维吾尔族耳聋人群检出率分别9.51%(118/1241)、0.94%(14/1490);检出携带有12Sr RNA基因突变的有149例,汉族120例,维吾尔族29例,占各自耳聋人群检出率的9.67%(120/1241)、1.95%(29/1490)。结论 GJB2基因、SLC26A4、线粒体基因12Sr RNA为新疆非综合征型耳聋常见致病基因,GJB2c.235del C是汉族和维吾尔族突变热点,携带杂合突变的耳聋患者可能有其他基因突变致聋的可能。 展开更多
关键词 遗传性耳聋 耳聋基因 基因检测
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Ketamine suppresses intestinal NF-kappa B activation and proinflammatory cytokine in endotoxic rats 被引量:28
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作者 jiesun Xiao-DongWang +1 位作者 HongLiu Jian-GuoXu 《World Journal of Gastroenterology》 SCIE CAS CSCD 2004年第7期1028-1031,共4页
AIM: To investigate the protective effect of ketamine on the endotoxin-induced proinflammatory cytokines and NFkappa B activation in the intestine. ETHODS: Adult male Wistar rats were randomly divided into 6 groups: (... AIM: To investigate the protective effect of ketamine on the endotoxin-induced proinflammatory cytokines and NFkappa B activation in the intestine. ETHODS: Adult male Wistar rats were randomly divided into 6 groups: (a) normal saline control, (b) challenged with endotoxin (5 mg/kg) and treated by saline, (c) challenged with endotoxin (5 mg/kg) and treated by ketamine (0.5 mg/kg), (d) challenged with endotoxin (5 mg/kg) and treated by ketamine (5 mg/kg ), (e) challenged with endotoxin (5 mg/kg) and treated by ketamine (50 mg/kg), and (f) saline injected and treated by ketamine (50 mg/kg). After 1, 4 or 6 h, TNF-α and IL-6 mRNA were investigated in the tissues of the intestine (jejunum) by RT-PCR. TNF-α and IL-6 were measured by ELISA. We used electrophoretic mobility shift assay (EMSA) to investigate NF-kappa B activity in the intestine. RESULTS: NF-kappa B activity, the expression of TNF-α and IL-6 were enhanced in the intestine by endotoxin. Ketamine at a dose of 0.5 mg/kg could suppress endotoxininduced TNF-α mRNA and protein elevation and inhibit NFkappa B activation in the intestine. However the least dosage of ketamine to inhibit IL-6 was 5 mg/kg in our experiment. CONCLUSION: Ketamine can suppress endotoxin-induced production of proinflammatory cytokines such as TNF-α and IL-6 production in the intestine. This suppressive effect may act through inhibiting NF-kappa B. 展开更多
关键词 克他命 NF-κB 炎症 内毒素 动物实验 药理作用 肠道功能 细胞因子 脂多糖
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HLA-DRB1 allele polymorphisms in genetic susceptibility to esophageal carcinoma 被引量:8
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作者 JunLin Chang-ShengDeng +5 位作者 jiesun Xian-GongZheng XingHuang YanZhou PingXiong Ya-PingWang 《World Journal of Gastroenterology》 SCIE CAS CSCD 2003年第3期412-416,共5页
AIM: To probe into the genetic susceptibility of HLA-DRB1 alleles to esophageal carcinoma in Han Chinese in Hubei Province.METHODS: HLA-DRB1 allele polymorphisms were typed by polymerase chain reaction with sequence-s... AIM: To probe into the genetic susceptibility of HLA-DRB1 alleles to esophageal carcinoma in Han Chinese in Hubei Province.METHODS: HLA-DRB1 allele polymorphisms were typed by polymerase chain reaction with sequence-specific primers (PCR-SSP) in 42 unrelated patients with esophageal cancer and 136 unrelated normal control subjects and the associated HLA-DRB1 allele was measured by nucleotide sequence analysis with PCR.SAS software was used in statistics.RESULTS: Allele frequency (AF) of HLA-DRB1·0901 was significantly higher in esophageal carcinoma patients than that in the normal controls (0.2500 vs0.1397, P=0.028, the odds ratio 2.053, etiologic fraction 0.1282). After analyzed the allele nucleotide sequence of HLA-DRB1·0901 which approachs to the corresponded exon 2 sequence of the allele in genebank. There was no association between patients and controls in the rested HLA-DRB1 alleles.CONCLUSION: HLA-DRB1·0901 allele is more common in the patients with esophageal carcinoma than in the healthy controls, which is positively associated with the patients of Hubei Han Chinese. Individuals carrying HLA-DRB1·0901may be susceptible to esophageal carcinoma. 展开更多
关键词 HLA-DRB1 等位基因 T细胞 食道癌 基因多态性 遗传易感性 PCR-SSP
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A New Halogenated Biindole and A New Apo-carotenone from Green Alga Chaetomorpha basiretorsa Setchell 被引量:6
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作者 DaYongSHI LiJunHAN +5 位作者 jiesun ShuaiLI SuJuanWANG YongChunYANG XiaoFAN JianGongSHI 《Chinese Chemical Letters》 SCIE CAS CSCD 2005年第6期777-780,共4页
A new halogenated biindole and a new apo-carotenone have been isolated from the ethanolic extract of the green alga Chaetomorpha basiretorsa Sethcell. On the basis of chemical and spectroscopic methods including 2D NM... A new halogenated biindole and a new apo-carotenone have been isolated from the ethanolic extract of the green alga Chaetomorpha basiretorsa Sethcell. On the basis of chemical and spectroscopic methods including 2D NMR technique, their structures have been elucidated as 4,4′-dichloro-5,5′-dibromo-7,7′-dimethoxy-2,2′-bi-1H-indole and 1′S*,4′R*-8-(4′-hydroxy-2′,6′,6′- trimethylcyclohex-2-enyl)-6-methyloct-3E,5E,7E-trien-2-one, respectively. 展开更多
关键词 Green alga Chaetomorpha basiretorsa Sethcell 4 4′-dichloro-5 5′-dibromo-7 7′-di- methoxy-2 2′-bi-1H-indole 1′S* 4′R*-8-(4′-hydroxy-2′ 6′ 6′-trimethylcyclohex-2-enyl)-6-methyl- oct-3E 5E 7E-trien-2-one.
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