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VARS2基因单核苷酸多态性和广东汉族女性散发性乳腺癌相关性研究
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作者 黄传蔷 杨学习 +4 位作者 李粉霞 刘民锋 郭昭泽 董建宇 叶长生 《免疫学杂志》 CAS CSCD 北大核心 2012年第11期964-967,共4页
目的探讨VARS2(valyl-tRNA synthetase 2)基因中单核苷酸多态性位点(single nucleotide polymorphisms,SNP)rs2249464与广东省汉族女性散发性乳腺癌的相关性。方法采用MassARRAY-IPLEX SNP分型技术,以南方医科大学南方医院的216例广... 目的探讨VARS2(valyl-tRNA synthetase 2)基因中单核苷酸多态性位点(single nucleotide polymorphisms,SNP)rs2249464与广东省汉族女性散发性乳腺癌的相关性。方法采用MassARRAY-IPLEX SNP分型技术,以南方医科大学南方医院的216例广东汉族乳腺癌患者及216例同期健康体检者为研究对象,对rs2249464多态性位点进行基因分型,利用χ2检验统计分析病例组和对照组的基因型频率有无差异,利用非条件Logistic回归计算比数比(odds ratio,OR)和95%可信区间(confidence interval,CI)来评价此位点多态性与乳腺癌的相关性。然后进一步将病例组按雌激素受体(estrogen receptor,ER)和孕激素受体(progesterone receptor,PR)免疫组化结果行分层分析。结果 rs2249464位点C/C,C/T,T/T 3种基因型分布在对照组和病例组之间有统计学差异。根据免疫组化情况进一步分层分析结果表明rs2249464的基因型分布在ER阳性/阴性组之间的差异无统计学意义(P>0.05);但在PR阳性/阴性组之间的差异有统计学意义(P<0.05)。结论 VARS2基因rs2249464位点单核苷酸多态性与广东汉族散发性乳腺癌的易感性具有相关性,且携带T/T基因型的患者更容易罹患PR阴性乳腺癌。 展开更多
关键词 单核苷酸多态性 乳腺癌 vars2 雌激素受体 孕激素受体
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VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report
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作者 Xiao-Hui Wu Shuang-Zhu Lin +3 位作者 Yan-Qiu Zhou Wan-Qi Wang Jia-Yi Li Qian-Dui Chen 《World Journal of Clinical Cases》 SCIE 2022年第24期8749-8754,共6页
BACKGROUND The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults,which can occur at any time in life,often associated with neurological dysfun... BACKGROUND The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults,which can occur at any time in life,often associated with neurological dysfunction,and lead to chronic disability and premature death.Approximately one-third of patients with mitochondrial disease have biochemical defects involving multiple respiratory chain complexes,suggesting defects in protein synthesis within the mitochondria.We here report a child with VARS2 gene mutations causing mitochondrial disease.CASE SUMMARY A girl,aged 3 years and 4 mo,had been unable to sit and crawl alone since birth,with obvious seizures and microcephaly.Brain magnetic resonance imaging showed symmetrical,flaky,long T1-weighted and low T2-weighted signals in the posterior part of the bilateral putamen with a high signal shadow.T2 fluidattenuated inversion recovery imaging showed a slightly high signal and diffusion-weighted imaging showed an obvious high signal.Whole-exome gene sequencing revealed a compound heterozygous mutation in the VARS2 gene,c.1163(exon11)C>T and c.1940(exon20)C>T,which was derived from the parents.The child was diagnosed with combined oxidative phosphorylation deficiency type 20.CONCLUSION In this patient,mitochondrial disorders including Leigh syndrome and MELAS syndrome(mitochondrial myopathy,encephalopathy,lactic acidosis,and stroke-like episodes)were ruled out,and combined oxidative phosphorylation deficiency type 20 was diagnosed,expanding the phenotypic spectrum of the disease. 展开更多
关键词 Mitochondrial aminoacyl-tRNA synthetase Mitochondrial diseases vars2 Case report
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Combined Oxidative Phosphorylation Deficiency-20-Exome as a Diagnostic Implement
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作者 Paulo Roberto Matos-Neto Lucas Antonissen Lima Verde +5 位作者 Airton Ferreira da Ponte-Filho Luís Eduardo Oliveira Matos Amandha Espavier Trés Paulo Roberto Lacerda Leal Gerardo Cristino-Filho Regina Coeli de Carvalho Porto Carneiro 《Journal of Biosciences and Medicines》 2024年第6期7-12,共6页
Mitochondrial disorders are phenotypically varied, with serious clinical repercussions. Among them, there is the deficiency of combined oxidative phosphorylation of type 20, which occurs due to a defect in the VARS2 g... Mitochondrial disorders are phenotypically varied, with serious clinical repercussions. Among them, there is the deficiency of combined oxidative phosphorylation of type 20, which occurs due to a defect in the VARS2 gene. This article presents a case of a 2-year-old female with progressive myoclonic epilepsy and psychomotor regression, with refractoriness to multiple anticonvulsants. The diagnosis was only made after the examination was carried out. Therefore, this article highlights the aspects of this rare disease and the importance of the exome for the diagnosis of rare conditions. 展开更多
关键词 Oxidative Phosphorylation EPILEPSY EXOME Mitochondrial Defect vars2
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基于贝叶斯模型与VAR模型的蔬菜销量与定价预测
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作者 艾乐怡 刘珉熙 +1 位作者 李浩 杨新平 《数学建模及其应用》 2024年第2期57-65,共9页
对商超蔬菜日销售数据进行数据透视筛选,利用同期平均法处理异常值和缺失值,生成年度日销售新数据.对单品蔬菜销量进行Shapiro-Wilks检验,发现不服从正态分布,但经相关性分析发现同类别不同蔬菜单品销量间存在显著相关性.构建同类蔬菜销... 对商超蔬菜日销售数据进行数据透视筛选,利用同期平均法处理异常值和缺失值,生成年度日销售新数据.对单品蔬菜销量进行Shapiro-Wilks检验,发现不服从正态分布,但经相关性分析发现同类别不同蔬菜单品销量间存在显著相关性.构建同类蔬菜销量Bayesian模型,定量化表达单品间销量的关系,建立单品蔬菜销量的Bayesian模型刻画销量的主要影响因素,两个模型分析和预测结果与实际相符.构建VAR(2)模型,完成未来一周补货设计.以收益最大化为目标,在满足市场需求与销售空间限制下,建立优化模型,完成未来一天的补货量及定价设计,为商超蔬菜销售提供合理化建议. 展开更多
关键词 同期平均 Bayesian模型 MC链收敛性 VAR(2)模型 优化模型
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合成肽VAR2特异性结合循环肿瘤细胞的检测及临床应用
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作者 余宏 丁利杰 +2 位作者 刘厚聪 王纪东 杜冀晖 《基础医学与临床》 2023年第11期1662-1667,共6页
目的探讨疟疾蛋白(VAR2)合成肽特异性结合循环肿瘤细胞(CTCs)的检测及临床应用。方法选择疟疾蛋白VAR2CSA功能结构域肽段序列合成VAR2多肽;基于纳米微流控技术富集CTCs,利用VAR2合成肽对富集细胞进行检测,建立一种新型CTCs检测方案。用... 目的探讨疟疾蛋白(VAR2)合成肽特异性结合循环肿瘤细胞(CTCs)的检测及临床应用。方法选择疟疾蛋白VAR2CSA功能结构域肽段序列合成VAR2多肽;基于纳米微流控技术富集CTCs,利用VAR2合成肽对富集细胞进行检测,建立一种新型CTCs检测方案。用细胞免疫荧光染色、流式细胞测量术及肿瘤细胞掺入回收实验,分析VAR2合成肽与不同组织来源肿瘤细胞特异性结合、回收效率,并与免疫荧光原位杂交(imFISH)检测法进行比较。选取22例结直肠癌患者与22名健康者,利用VAR2合成肽检测两者外周血CTCs。比较不同TNM分期患者CTCs阳性检出率。结果合成肽VAR2可以与人结肠癌细胞系SW620、人乳腺癌细胞系MCF7和人食管鳞癌细胞系KYSE180不同组织来源的肿瘤细胞特异性结合,合成肽VAR2检测100个SW620、MCF7、KYSE180肿瘤细胞掺入3 mL外周血中的回收率分别为82.8%±8.41%、56.2%±3.57%、86.6%±8.19%,与imFISH法检测法比较,差异无统计学意义。合成肽VAR2检测50、100、200个3种不同肿瘤细胞的回收率与掺入肿瘤细胞的数量没有明显相关性。合成肽VAR2检测临床结直肠癌患者外周血样本CTCs阳性率为63.6%,高于健康受试者组CTCs阳性率的0.0%,同时与侵袭深度、淋巴结转移、远处转移及临床分期相关,差异有统计学意义(P<0.05)。结论合成肽VAR2可实现对不同组织来源、非抗体依赖性的特异性CTCs检测,对于肿瘤患者临床分期、病情评估具有一定的临床应用价值。 展开更多
关键词 循环肿瘤细胞 疟疾蛋白VAR2CSA(VAR2) 非抗体依赖性 结直肠癌 临床分期
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恶性疟原虫海南株var2csa基因DBL区蛋白的原核表达及功能分析 被引量:1
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作者 康巍 常志广 +3 位作者 陆慧君 姜宁 尹继刚 陈启军 《中国寄生虫学与寄生虫病杂志》 CAS CSCD 北大核心 2011年第1期37-41,共5页
目的克隆、表达恶性疟原虫海南株变异抗原基因(var)家族之一var2csa基因的血型抗原结合基团(duffy anti-gen-binding ligand,DBL)4、DBL5、DBL6区,比较其与硫酸软骨素A(chondroitin sulfate A,CSA)黏附能力的差异。方法 PCR扩增恶性疟... 目的克隆、表达恶性疟原虫海南株变异抗原基因(var)家族之一var2csa基因的血型抗原结合基团(duffy anti-gen-binding ligand,DBL)4、DBL5、DBL6区,比较其与硫酸软骨素A(chondroitin sulfate A,CSA)黏附能力的差异。方法 PCR扩增恶性疟原虫海南株基因组DNA中3个目的片段,将扩增产物与pMD18-T克隆载体连接,经酶切、测序鉴定正确后克隆至表达载体pET-22b上,转化至大肠埃希菌BL21(DE3)中,以异丙基-β-D-硫代半乳糖苷(IPTG)诱导表达重组蛋白,并用组氨酸标签融合蛋白纯化柱(His GraciTrap)纯化,经十二烷基硫酸钠-聚丙烯酰胺凝胶电泳(SDS-PAGE)、蛋白质印迹(Western blotting)检测目的蛋白。ELISA检测不同DBL区重组蛋白与CSA的结合情况。结果 PCR扩增获得目的片段分别为996、859和894bp,酶切及DNA测序结果均显示重组质粒构建成功,在大肠埃希菌BL21(DE3)中成功表达并纯化3个DBL区重组蛋白,DBL4区、DBL5区和DBL6区的相对分子质量分别为Mr 439800,Mr 34500,Mr 36000。West-ern blotting检测结果显示,目的蛋白具有反应原性。ELISA结果显示,不同蛋白浓度条件下DBL5区均明显比其他两个DBL区的吸光度(A405值)高(P<0.05),表明DBL5区与CSA的黏附能力较强。结论 var2csa基因3个DBL区重组蛋白表达成功,DBL5区与CSA的黏附能力较强。 展开更多
关键词 妊娠相关疟疾 恶性疟原虫 var2csa基因 DBL 硫酸软骨素A
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妊娠相关性疟疾及其研究进展 被引量:2
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作者 李萌 尹继刚 陈启军 《热带医学杂志》 CAS 2008年第12期1287-1293,共7页
恶性疟疾是对人类健康危害最为严重的传染病之一。生活在疟疾流行区的人随着年龄的增长和感染次数的增加会逐渐获得保护性免疫即临床免疫。然而,孕妇尤其是初孕妇女在妊娠过程中感染恶性疟原虫后往往呈现急性感染症状,甚至危及孕妇和胎... 恶性疟疾是对人类健康危害最为严重的传染病之一。生活在疟疾流行区的人随着年龄的增长和感染次数的增加会逐渐获得保护性免疫即临床免疫。然而,孕妇尤其是初孕妇女在妊娠过程中感染恶性疟原虫后往往呈现急性感染症状,甚至危及孕妇和胎儿的生命。妊娠相关性疟疾(pregnancy-associated malaria,PAM)主要是由于受恶性疟原虫感染的红细胞和单核细胞在胎盘绒毛间大量聚集引起的。大量的研究表明,黏附在子宫粘膜上的虫体表达一种具有特殊生物活性和抗原性的蛋白质(var2CSA)。Var2CSA可特异性地与子宫粘膜上的硫酸软骨素A(Chondroitin sulfateA,CSA)结合。此外,由于var2CSA的序列相对保守,机体在感染几次以后较容易产生交叉免疫保护反应。对PAM的研究是疟疾领域内的重要内容,目前在很多领域(病原学、分子致病机理、免疫学等)已经取得重要进展。本篇综述概括了近年来在PAM研究方面的进展,包括虫体表达的主要膜蛋白质的功能、相关的人体受体以及免疫学方面等内容。 展开更多
关键词 恶性疟原虫 妊娠相关性疟疾 var2CSA
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Effects of Biological Flocs on Growth Performance of Cyprinus carpio var.Furui No.2 and Aquaculture Water Quality
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作者 Chunshan GAO Bingkan YANG +3 位作者 Tiegang LIU Xiuying LI Yanhui LIU Xiujie ZU 《Asian Agricultural Research》 2021年第6期36-39,共4页
[Objectives]To study the effects of biological flocs on growth performance of Cyprinus carpio var.Furui No.2 and aquaculture water quality.[Methods]The comparative experiment method was adopted.An experimental group a... [Objectives]To study the effects of biological flocs on growth performance of Cyprinus carpio var.Furui No.2 and aquaculture water quality.[Methods]The comparative experiment method was adopted.An experimental group and a control group were set up,with 3 replicates in each group.The experimental group used beet molasses as the carbon source which was added once a week.The breed,quantity,and specifications of stocked fish in each group were exactly the same.The experiment lasted for 60 d.Fish growth indicators were measured every 7 d.After one week of the experiment,ammonia nitrogen and nitrite were monitored once a week,and dissolved oxygen was monitored once a day.[Results]The survival rate of fish,the average weight of,the weight gain rate,and the specific growth rate of the experimental group were significantly higher than those of the control group(P<0.05),and the feed conversion rate was significantly lower than that of the control group(P<0.05).One week after adding the carbon source in the experimental group,the ammonia nitrogen was lower than the control group,and after three weeks it was significantly lower than the control group(P<0.05);after adding the carbon source,the nitrite in the experimental group was lower than the control group,there was no significant difference in the first three weeks(P>0.05),and there was a significant difference after three weeks(P<0.05).The feed conversion rate of the experimental group was significantly lower than that of the control group(P<0.05).[Conclusions]Adding a carbon source can significantly reduce ammonia nitrogen,nitrite and other toxic and harmful substances in the aquaculture water,promote the growth of aquaculture fish and increase the feed utilization rate. 展开更多
关键词 Carbon source Cyprinus carpio var.Furui No.2 LARVAE Growth Water quality
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疟原虫重组蛋白rVAR2及其在肿瘤靶向治疗中的应用进展
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作者 蒋金露 潘海峰 +2 位作者 于思远 李廷栋 葛胜祥 《中国生物工程杂志》 CAS CSCD 北大核心 2023年第6期69-75,共7页
恶性肿瘤是造成人类死亡的主要原因之一,其发病率和死亡率逐年上升。靶向药物可精确作用于肿瘤,在近年来备受关注。特异性识别和广泛结合肿瘤细胞是实现肿瘤靶向治疗的关键,而目前缺乏高效特异的泛肿瘤靶向工具,这极大地限制了肿瘤靶向... 恶性肿瘤是造成人类死亡的主要原因之一,其发病率和死亡率逐年上升。靶向药物可精确作用于肿瘤,在近年来备受关注。特异性识别和广泛结合肿瘤细胞是实现肿瘤靶向治疗的关键,而目前缺乏高效特异的泛肿瘤靶向工具,这极大地限制了肿瘤靶向治疗的进一步发展。与现有的肿瘤靶向方式相比,疟原虫重组蛋白rVAR2能够特异性结合肿瘤细胞表面广泛表达的癌胚硫酸软骨素(oncofetal chondroitin sulfate,ofCS),具备泛肿瘤靶向的优点,为肿瘤靶向治疗提供了新思路。对rVAR2的特点及其近年来在肿瘤靶向治疗中的应用进展进行分析和总结,并对其未来发展方向进行了展望,以期为临床肿瘤靶向治疗及诊断方法的发展提供参考。 展开更多
关键词 VAR2CSA rVAR2 硫酸软骨素癌胚硫酸软骨素肿瘤靶向
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恶性疟原虫海南株var2csa基因的克隆、表达及免疫识别研究
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作者 康巍 彭帅 +3 位作者 陆慧君 尹继刚 陈启军 姜宁 《热带医学杂志》 CAS 2011年第11期1243-1247,共5页
目的克隆、表达恶性疟原虫海南株HN(2)var2csa基因DBL4、DBL5、DBL6区,通过ELISA方法比较其与硫酸软骨素A(CSA)的亲和能力差异,以及人体对恶性疟原虫海南株HN(1)、(2)VAR2CSA不同DBL区的免疫应答差异。方法根据DBL区序列设计3对引物,PC... 目的克隆、表达恶性疟原虫海南株HN(2)var2csa基因DBL4、DBL5、DBL6区,通过ELISA方法比较其与硫酸软骨素A(CSA)的亲和能力差异,以及人体对恶性疟原虫海南株HN(1)、(2)VAR2CSA不同DBL区的免疫应答差异。方法根据DBL区序列设计3对引物,PCR扩增目的片段,并与pMD18-T克隆载体连接。经PCR、酶切、测序鉴定正确后克隆至表达载体pET-22b,通过转化、诱导、纯化表达重组蛋白质,SDS-PAGE和Western blot检测。通过ELISA方法进行重组蛋白质与CSA的粘附实验以及与患者血清的免疫识别实验。结果酶切及DNA测序结果均表明表达载体构建成功,表达并纯化3个DBL区重组蛋白质,分子量与预计大小相同,Western blott检测目的蛋白质具有免疫反应性,ELISA显示不同蛋白浓度条件下DBL5区均明显比其它两个DBL区有更高的OD405值,并且DBL5区被妊娠相关疟疾病人血清识别水平显著高。结论 var2csa基因3个DBL区重组蛋白质表达成功,DBL5区与CSA的粘附能力较强,人体对DBL5区的免疫应答反应可能在抗病免疫过程中起到关键作用。 展开更多
关键词 妊娠相关疟疾 恶性疟原虫 var2csa基因 DBL 硫酸软骨素A
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Genetic Interactions Reveal that Speci c Defects of Chloroplast Translation are Associated with the Suppression of var2-Mediated Leaf Variegation 被引量:3
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作者 Xiayan Liu Mengdi Zheng +4 位作者 Rui Wang Ruijuan Wang Lijun An Steve R.Rodermel Fei Yu 《Journal of Integrative Plant Biology》 SCIE CAS CSCD 2013年第10期979-993,共15页
Arabidopsis thaliana L. yellow variegated (var2) mutant is defective in a chloroplast FtsH family metalloprotease, AtFtsH2/VAR2, and displays an intriguing green and white leaf variegation. This unique var2-mediated... Arabidopsis thaliana L. yellow variegated (var2) mutant is defective in a chloroplast FtsH family metalloprotease, AtFtsH2/VAR2, and displays an intriguing green and white leaf variegation. This unique var2-mediated leaf variegation offers a simple yet powerful tool for dissecting the genetic regulation of chloroplast development. Here, we report the isolation and characterization of a new var2 suppressor gene, SUPPRESSOR OF VARIEGA TION8 (SVR8), which encodes a putative chloroplast ribosomal large subunit protein, L24. Mutations in SVR8 suppress var2 leaf variegation at ambient temperature and partially suppress the cold-induced chlorosis phenotype of var2. Loss of SVR8 causes unique chloroplast rRNA processing defects, particularly the 23S-4.5S dicistronic precursor. The recovery of the major abnormal processing site in svr823S-4.5S precursor indicate that it does not lie in the same position where SVR8/L24 binds on the ribosome. Surprisingly, we found that the loss of a chloroplast ribosomal small subunit protein, $21, results in aberrant chloroplast rRNA processing but not suppression of var2 variegation. These findings suggest that the disruption of specific aspects of chloroplast translation, rather than a general impairment in chloroplast translation, suppress var2variegation and the existence of complex genetic interactions in chloroplast development. 展开更多
关键词 Chloroplast ribosomal protein L24 chloroplast rRNA processing genetic suppressor leaf variegation var2.
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Hepatoprotective and antioxidant effects of dietary Glycyrrhiza polysaccharide against TCDD-induced hepatic injury and RT-PCR quantification of AHR2,ARNT2,CYPIA mRNA in Jian Carp(Cyprinus carpio var.Jian) 被引量:8
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作者 Jinliang Du Liping Cao +1 位作者 Rui Jia Guojun Yin 《Journal of Environmental Sciences》 SCIE EI CAS CSCD 2017年第1期181-190,共10页
To evaluate the protective effects of Glycyrrhiza polysaccharide(GPS) against 2,3,7,8-tetrachlorodibenzo-p-dioxin(TCDD)-induced hepatotoxicity in Jian carp,the fish were fed diets containing GPS at doses of 0.1,0.... To evaluate the protective effects of Glycyrrhiza polysaccharide(GPS) against 2,3,7,8-tetrachlorodibenzo-p-dioxin(TCDD)-induced hepatotoxicity in Jian carp,the fish were fed diets containing GPS at doses of 0.1,0.5 and 1.0 g/kg for 60 days before an intraperitoneal injection of 0.6 μg/kg TCDD at a volume of 0.05 mL/10 g body weight.At 72 hr post-injection,blood and liver samples were taken for biochemical analysis and the fish liver samples were used for the preparation of pathological slices.The results showed that increases in alanine aminotransferase(GPT),aspartate aminotransferase(GOT),lactate dehydrogenase(LDH),and alkaline phosphatase(AKP) in serum induced by TCDD were significantly inhibited by pre-treatment with 1.0 g/kg GPS.Following the 1.0 g/kg GPS pre-treatment,total protein(TP),albumin(Alb),catalase(CAT),glutathione peroxidase(GPx),total antioxidant capacity(T-AOC) and superoxide dismutase(SOD) activities in liver tissue increased significantly,malondialdehyde(MDA) formation(P &lt; 0.05 or P &lt; 0.01) was significantly inhibited,and the expression of cytochrome P4501A(CYP1A),aryl hydrocarbon receptor 2(AHR2) and aryl hydrocarbon receptor nuclear translocator 2(ARNT2) mRNA(P &lt; 0.05) was significantly enhanced.Histological observations on fish liver were obtained by preparing paraffin tissue sections via HE staining,and the results showed that histological changes were obviously reduced by 0.5 and 1.0 g/kg GPS.GPS significantly reduced liver tissue damage caused by TCDD.Overall,these results proved the hepatoprotective effect of GPS in protecting against fish liver injury induced by TCDD,and supported the use of GPS(1.0 g/kg) as a hepatoprotective and antioxidant agent in fish. 展开更多
关键词 Aryl hydrocarbon receptor 2(AHR2) Aryl hydrocarbon receptor nuclear translocator 2(ARNT2) Cytochrome P4501A(CYP1A) Cyprinus carpio var.Jian Glycyrrhiza polysaccharide 2 3 7 8-Tetrachlorodibenzo-p-dioxin(TCDD)
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