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中欧地区COL7A1基因高发的第425位碱基A→G剪接位点突变和新发现的突变:对未来进行营养不良性大疱性表皮松解症突变检测的意义

世界核心医学期刊文摘（皮肤病学分册） 2005年第8期1卷 16-17页

作者： Csikászik A. m. Csikós m. Szocs H.I. 李政霄 Lós Department of DermatologySemmelweisUniversityMá ria u. 41 H- 1085 Budapest Hungary Lós DepartmentofDermatologySemmelweisUniversityMá ria u. 41 H- 1085 Budapest Hungary

Background: mutations in the type VII collagen gene (COL7A1) are responsible for dominant and recessive forms of dystrophic epidermolysis bullosa (DEB). These mutations are usually specific for individual families; only a few cases of recurring mutations have been identified. Objectives: Forty- three unrelated Hungarian and German patients with different DEB phenotypes were screened for novel and recurrent COL7A1 mutations. methods: All patients were classified based on clinical and genetic findings,skin immunofluorescent antigen mapping, and electron microscopic studies. mutation analysis was performed by amplification of genomic DNA with polymerase chain reaction using COL7A1- specific primers, heteroduplex analysis, and direct nucleotide sequencing. Restriction endonuclease digestion was used for family screening and mutation verification. Results: In this group of patients, the splice- site mutation 425A → G was observed frequently, in 11 of 86 alleles (12- 8% ), once in homozygous form and in nine cases in heterozygous form. One of 100 control alleles from clinically unaffected individuals also carried the mutation. We also identified three novel mutations: the 976- 3C → A splice- site mutation, and the 4929 del T and 8441- 15del20 deletions. Conclusions: High recurrence of the splice- site mutation 425A → G in central European patients with DEB should be taken into account when designing COL7A1 mutation detection strategies. Reporting of three novel COL7A1 mutations in this study further emphasizes the molecular heterogeneity of DEB and provides more information for studies on genotype- phenotype correlations in different DEB subtypes.

关键词： COL7A1基因剪接位点突变营养不良性突变检测基因突变电镜检查聚合酶链反应荧光抗原扩增基因遗传学检查

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构音障碍的感知分析在皮质基底节变性和帕金森病鉴别诊断中的作用

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世界核心医学期刊文摘（神经病学分册） 2006年第5期2卷 38-39页

作者： Ozsancak C Auzou P Jan m 张慧 Service de Neurologie Centre Hospitalier de Boulogne Sur Mer 62200 Boulogne sur Mer FranceDr.

Objective: To characterize the dysarthria in patients with corticobasal degeneration (CBD) and determine if analysis of speech in isolation helps to distinguish CBD patients from patients with Parkinson’s disease (PD). methods: 60 subjects were assessed by means of perceptual analysis of speech: 15 patients with CBD, 15 patients with PD and 30 control subjects. A detailed profile was furnished with the help of 33 perceptual items. A global perceptual approach was used to classify patients by judges blind to the medical diagnosis. Rating scales were adapted to quantify the degree of spasticity and hypokinesia in the speech of each patient. Results: Dysarthria was frequent in CBD even though it remained mild for a long period of time. Group analysis revealed the importance of temporal errors of speech control in CBD patients while voice disturbances were most frequent in PD patients. However, attempts to classify patients according to global perceptual analysis remained below a reasonable level of clinical acceptability. Finally, even though the widespread neuropathological changes suggest that deviant speech dimensions of several types of dysarthria might be found in CBD, evidence for a mixed dysarthria with presence of spastic elements could not be established. Conclusion: The findings support the view that even though perceptual analysis is mandatory in the management of dysarthric patients, it does not help in the clinical differential diagnosis of CBD.

关键词：皮质基底节变性构音障碍鉴别诊断帕金森病感知患者特征 CBD 病理学变化语言分析评定量表

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用二种血清学试验对牛白血病病毒母源抗体持续时时的检测

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浙江畜牧兽医 1985年第1期 40-41页

作者： m.J.Burridge 裘永浩

本文应用牛白血病病毒糖蛋白抗原对母源抗体的持续时间进行了研究。研究是以已感染牛白血病病毒的母牛所生小牛进行的。但是这些小牛没有胎内感染的迹象。用琼脂凝胶扩散试验(以下简称AGIT)铡定定139头小牛,母源抗体检出的持续时间为不... 详细信息

本文应用牛白血病病毒糖蛋白抗原对母源抗体的持续时间进行了研究。研究是以已感染牛白血病病毒的母牛所生小牛进行的。但是这些小牛没有胎内感染的迹象。用琼脂凝胶扩散试验(以下简称AGIT)铡定定139头小牛,母源抗体检出的持续时间为不到1个月至6个月(平均2.9个月。通过对24头小牛的比较研究,有22头用放射免疫沉淀分析法(以下简称ria)比AGIT测到的母源抗体持续时间要长1—5个月。在这24头小牛中,母源抗体的平均持续时间用AGIT测到的为3.8个月(最短2个月。最长6个月);而用ria测到的平均为6.0个月(最短4个月,最长9个月)。

关键词：母源抗体持续时间平均 AG 检出个月连续时间牛白血病病毒月龄血清学试验

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Epidemiological and clinical characteristics of COVID-19 in a Brazilian public hospital

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World Journal of Clinical Cases 2023年第8期11卷 1761-1770页

作者： Fillipe Dantas Pinheiro Luana Weber Lopes Rafael Santos Dantas miranda Dórea Glauber Rocha Lima Araújo Filipe Antônio França da Silva Breno Bittencourt de Brito maria Luísa Cordeiro Santos Geovani moreno Santos Júnior maria Teresa Araújo de Lorenzo Barcia Renata de Amorim marques AndréBezerra Botelho Anna Carolina Saúde Dantas Davi Tanajura Costa Adriano Fernandes Teixeira Cláudio Lima Souza Lucas miranda marques Guilherme Barretos Campos márcio Vasconcelos Oliveira Dulciene maria de magalhães Queiroz Fabrício Freire de melo Instituto multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil Hospital Geral de Vitória da Conquista Vitória da Conquista 45030-160BahiaBrazil Departamento de Ciências da Saúde Universidade Estadual do Sudoeste da Bahia(UESB)Vitória da Conquista 45083-900BahiaBrazil Faculdade de medicina Universidade Federal de Minas GeraisBelo Horizonte 31270-901Minas GeraisBrazil

BACKGROUND The coronavirus disease 2019(COVID-19)pandemic has become a major health concern *** that context,the understanding of epidemiological and clinical features associated with the disease and its severity is crucial for the establishment of strategies aimed at disease control and *** To describe epidemiological features,signs,symptoms,and laboratory findings among severely ill COVID-19 patients from an inten-sive care unit in northeastern Brazil as well as to evaluate predictor factors for disease *** This is a prospective single-center study that evaluated 115 patients admitted to the intensive care unit in a northeastern Brazilian *** The patients had a median age of 65.60±15.78 *** was the most frequent symptom,affecting 73.9%of the patients,followed by cough(54.7%).Fever was reported in approximately one-third of patients and myalgia in 20.8%of the *** least two comorbidities were found in 41.7%of the patients,and hypertension was the most prevalent(57.3%).In addition,having two or more comorbidities was a predictor of mortality,and lower platelet count was positively associated with *** and vomiting were two symptoms that were predictors of death,and the presence of a cough was a protective *** This is the first report of a negative correlation between cough and death in severely ill severe acute respiratory syndrome coronavirus 2-infected *** associations between comorbidities,advanced age,and low platelet count and the outcomes of the infection were similar to the results of previous studies,highlighting the relevance of these features.

关键词： COVID-19 Epidemiology Symptoms Comorbidities Laboratory parameters

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日粮营养水平对青年山羊瘤胃上皮发育和功能调节的内分泌机制

日粮营养水平对青年山羊瘤胃上皮发育和功能调节的内分泌机制

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动物生理生化学分会第八次学术会议暨全国反刍动物营养生理生化第三次学术研讨会

作者：沈赞明 H-m Seyfert B.Lhrke F.Schneider R.■itnan S.Kuhla H.m.Hammon J.W.Blum H.martens H.Hagemeister J.Voigt 南京农业大学 FBN Dummerstorf Germany Research Institute of Animal Production Nitra Slovakia University of Berne Switzerland Free University Berlin Germany

24只青年公山羊随机分为2组(n=12),分别饲喂高能量和高蛋白(HG,1000 kJ·kg(-0.75)·(d-1)],2500mg·kg(-0.75)·(d-1)])或低能量和有蛋白(LG,500 kJ·kg(-0.75)·(d-1)] and 1150 mg·kg(-0.75)·(d-1)])日粮,试验期42天。试验前一天和试验期内隔周分别经颈静脉采血,试验结束屠宰山羊,取瘤胃上皮和瘤胃液分别测定瘤胃挥发性脂肪酸浓度(气相色谱法)、瘤胃上皮表面积(computer-operated Image C picture analysissystem)、瘤胃上皮对比Na的运输(ussing-chamber技术)、血浆IGF-1的浓度(ria)、瘤胃上皮IGF-1受体(IGF-1R,配体结合实验)数量、IGF-1和IGF-1R的mRNA(Real-time PCR),以及IGF-1对体

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Leaf Essential Oil from Three Exotic mytaceae Species Growing in the Botanical Garden of Rio de Janeiro, Brazil

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American Journal of Plant Sciences 2016年第6期7卷 834-840页

作者： Antonio C. Siani marcos J. Nakamura Gabrielle P. das Neves Sérgio da S. monteiro mônica Freiman S. Ramos Departamento de Química de Produtos Naturais Instituto de Tecnologia em Fármacos Fundacao Oswaldo Cruz Rio de Janeiro Brazil Fórum Itaboraí de Política Ciência e Cultura na Saúde Fundacao Oswaldo Cruz Palácio Itaboraí Petrópolis Brazil Departamento de medicamentos Faculdade de Farmácia Faculdade de Farmácia Universidade Federal do Rio de Janeiro CCS Bloco K Cidade Universitária Rio de Janeiro Brazil

The leaf essential oils of three myrtaceae species: melaleuca leucadendra, Lophostemon confertus and Ugni molinae, non-native to Brazil and growing in the Rio de Janeiro Botanical Garden, were obtained by hydrodistillation and analyzed by GC and GC-mS. Oil yields from fresh leaves were 0.76%, 0.08%, and 0.04%, respectively. Sixty-seven percent of m. leucadendra oil was made up of monoterpenes, wherein 1,8-cineole was largely predominant (49%), followed by α-terpineol (7.6%) and terpinen-4-ol (4.3%). The sesquiterpene profile was characterized by a significant amount of viridiflorol (29%). Oil from L. confertus was 42% monoterpenes;the most predominant constituents being α-pinene (20.8%) and α-thujene (7.1%). Total sesquiterpenes (55.4%) comprised spathulenol (28%), globulol (14%), and aromadendrene derivatives (8.5%) as the main species. U. molinae oil was exclusively composed of sesquiterpenes, with a predominance of β-elemene (44%) followed by β-caryophyllene (7.1%), and bicyclogermacrene (6.7%);guaiol-type alcohols made up 30% of its profile. To the best of our knowledge, this is the first time U. molinae leaf oil composition has been described. The composition of m. leucadendra oil corresponded to a chemotype described for a species growing in Cuba, but was different from that produced by m. leucadendra growing in Egypt, Tunisia, and elsewhere in Brazil. The profile of the L. confertus leaf oil showed high similarity with those described for Australian native specimens, in particular in relation to the relevant presence of α-pinene, aromadendrenes, and the guaiol-type alcohols.

关键词： melaleuca leucadendra Lophostemon confertus Ugni molinae myrtaceae Essential oil

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Fungal diversity notes 1512–1610: taxonomic and phylogenetic contributions on genera and species of fungal taxa

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Fungal Diversity 2022年第6期117卷 1-272页

作者： Ruvishika S.Jayawardena Kevin D.Hyde Song Wang Ya‑Ru Sun Nakarin Suwannarach Phongeun Sysouphanthong mohamed A.Abdel‑Wahab Faten A.Abdel‑Aziz Pranami D.Abeywickrama Vanessa P.Abreu Alireza Armand AndréAptroot Dan‑Feng Bao Dominik Begerow Jean‑michel Bellanger Jadson D.P.Bezerra Digvijayini Bundhun mark S.Calabon Ting Cao Taimy Cantillo João LVRCarvalho Napalai Chaiwan Che‑Chih Chen Régis Courtecuisse Bao‑Kai Cui Ulrike Damm Cvetomir m.Denchev Teodor T.Denchev Chun Y.Deng Bandarupalli Devadatha Nimali Ide Silva Lidiane Ados Santos Nawal K.Dubey Sylvain Dumez Himashi SFerdinandez André L.Firmino Yusufon Gaforov Achala J.Gajanayake Deecksha Gomdola Sugantha Gunaseelan Shucheng‑He Zin H.Htet malarvizhi Kaliyaperumal martin Kemler Kezhocuyi Kezo Nuwan DKularathnage marco Leonardi Ji‑Peng Li Chunfang Liao Shun Liu michael Loizides Thatsanee Luangharn Jian ma Hugo madrid S.mahadevakumar Sajeewa S.N.maharachchikumbura Dimuthu S.manamgoda maría P.martín Niranjan mekala Pierre‑Arthur moreau Yan‑Hong mu Pasouvang Pahoua Dhandevi Pem Olinto L.Pereira Wiphawanee Phonrob Chayanard Phukhamsakda mubashar Raza Guang‑Cong Ren Andrea C.Rinaldi Walter Rossi Binu C.Samarakoon milan CSamarakoon Vemuri V.Sarma Indunil C.Senanayake Archana Singh maria F.Souza Cristina m.Souza‑motta Adriano A.Spielmann Wenxin Su Xia Tang XingGuo Tian Kasun m.Thambugala Naritsada Thongklang Danushka S.Tennakoon Nopparat Wannathes DingPeng Wei Stéphane Welti Subodini N.Wijesinghe Hongde Yang Yunhui Yang Hai‑Sheng Yuan Huang Zhang Jingyi Zhang Abhaya Balasuriya Chitrabhanu SBhunjun Timur S.Bulgakov Lei Cai Erio Camporesi Putarak Chomnunti Y.S.Deepika mingkwan Doilom Wei‑Jun Duan Shi‑Ling Han Naruemon Huanraluek EBGareth Jones NLakshmidevi Yu Li Saisamorn Lumyong Zong‑Long Luo Surapong Khuna Jaturong Kumla Ishara S.manawasinghe Ausana mapook Wilawan Punyaboon Saowaluck Tibpromma Yong‑Zhong Lu JiYe Yan Yong Wang Center of Excellence in Fungal Research Mae Fah Luang UniversityChiang Rai 57100Thailand School of Science Mae Fah Luang UniversityChiang Rai 57100Thailand Innovative Institute for Plant Health Zhongkai University of Agriculture and EngineeringGuangzhou 510225P.R.China Department of Plant Pathology College of AgricultureGuizhou UniversityGuiyang 550025GuizhouChina Research Center of microbial Diversity and Sustainable Utilization Chiang Mai UniversityChiang Mai 50200Thailand Department of Biology Faculty of ScienceChiang Mai UniversityChiang Mai 50200Thailand Biotechnology and Ecology Institute Ministry of Agriculture and ForestryP.O.Box:811Vientiane CapitalLao PDR Department of Botany and microbiology Faculty of ScienceSohag UniversitySohag 82524Egypt Beijing Key Laboratory of Environment-Friendly management on Fruit Diseases and Pests in North China Institute of Plant ProtectionBeijing Academy of Agriculture and Forestry SciencesBeijing 100097China Departamento de Fitopatologia Universidade Federal de ViçosaViçosaMinas GeraisBrazil Laboratório de Botânica/Liquenologia Instituto de BiociênciasUniversidade Federal de Mato Grosso do SulAvenida Costa e Silva S/NBairro UniversitárioCampo GrandeMato Grosso do Sul CEP 79070-900Brazil College of Agriculture and Biological Sciences Dali UniversityDali 671003YunnanChina Department of Entomology and Plant Pathology Faculty of AgricultureChiang Mai UniversityChiang Mai 50200Thailand Institute of Plant Science and microbiology Universität HamburgOrganismic Botany and MycologyOhnhorststr.1822609 HamburgGermany CEFE CNRSUniv.MontpellierEPHEIRDINSERM1919Route de Mende34293 Montpellier Cedex 5France Setor de micologia Departamento de Biociências e TecnologiaInstituto de Patologia Tropical e Saúde PúblicaUniversidade Federal de GoiásRua 235S/NSetor UniversitárioGoiâniaGO CEP:74605-050Brazil Division of Biological Sciences College of Arts and SciencesUniversity of the Philippines Visayas5023 MiagaoIloiloPhilippines CA

This article is the 14th in the Fungal Diversity Notes series,wherein we report 98 taxa distributed in two phyla,seven classes,26 orders and 50 families which are described and *** in this study were collected from Australia,Brazil,Burkina Faso,Chile,China,Cyprus,Egypt,France,French Guiana,India,Indonesia,Italy,Laos,mexico,Russia,Sri Lanka,Thailand,and *** are 59 new taxa,39 new hosts and new geographical distributions with one new *** 59 new species comprise Angustimassarina kunmingense,Asterina lopi,Asterina brigadeirensis,Bartalinia bidenticola,Bartalinia caryotae,Buellia pruinocalcarea,Coltricia insularis,Colletotrichum fexuosum,Colletotrichum thasutense,Coniochaeta caraganae,Coniothyrium yuccicola,Dematipyriforma aquatic,Dematipyriforma globispora,Dematipyriforma nilotica,Distoseptispora bambusicola,Fulvifomes jawadhuvensis,Fulvifomes malaiyanurensis,Fulvifomes thiruvannamalaiensis,Fusarium purpurea,Gerronema atrovirens,Gerronema favum,Gerronema keralense,Gerronema kuruvense,Grammothele taiwanensis,Hongkongmyces changchunensis,Hypoxylon inaequale,Kirschsteiniothelia acutisporum,Kirschsteiniothelia crustaceum,Kirschsteiniothelia extensum,Kirschsteiniothelia septemseptatum,Kirschsteiniothelia spatiosum,Lecanora immersocalcarea,Lepiota subthailandica,Lindgomyces guizhouensis,marthe asmius pallidoaurantiacus,marasmius tangerinus,Neovaginatispora mangiferae,Pararamichloridium aquisubtropicum,Pestalotiopsis piraubensis,Phacidium chinaum,Phaeoisaria goiasensis,Phaeoseptum thailandicum,Pleurothecium aquisubtropicum,Pseudocercospora vernoniae,Pyrenophora verruculosa,Rhachomyces cruralis,Rhachomyces hyperommae,Rhachomyces magrinii,Rhachomyces platyprosophi,Rhizomarasmius cunninghamietorum,Skeletocutis cangshanensis,Skeletocutis subchrysella,Sporisorium anadelphiae-leptocomae,Tetraploa dashaoensis,Tomentella exiguelata,Tomentella fuscoaraneosa,Tricholomopsis lechatii,Vaginatispora favispora and Wetmoreana *** new combin

关键词： 59 New taxa 39 New records Ascomycota Basidiomycota Dothideomycetes Lecanoromycetes Leotiomycetes Sordariomycetes Ustilaginomycotina

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牛乳和血浆中孕酮含量酶免疫测定法的研究及其价值

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草食家畜 1987年第1期 27-29页

作者： D.F.m.Van de wiel ,高康军

孕酮测定法对于提高家畜繁殖率来说是一种实用有效的方法,目前已用于牛、猪、水牛、山羊的妊娠诊断;奶牛和水牛的同期发情,牛受胎率的监测等。放射免疫测定法(ria)是迄今应用最广泛的激素测定方法。但ria法受几种因素的限制,其中之一... 详细信息

孕酮测定法对于提高家畜繁殖率来说是一种实用有效的方法,目前已用于牛、猪、水牛、山羊的妊娠诊断;奶牛和水牛的同期发情,牛受胎率的监测等。放射免疫测定法(ria)是迄今应用最广泛的激素测定方法。但ria法受几种因素的限制,其中之一就是必须使用放射性同位素。近10年来,人们围绕着以其它标记物(如酶类)来代替放射性同位素,作了许多尝试。酶免疫测定( EIA)技术的主要问题,在于它可能妨碍样品成份中除被测激

关键词：孕酮测定法 EIA 乳中孕激素微滴妊娠诊断牛乳牛奶血浆

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Serum immunoreactive bone sialoprotein in children ,healthy adults,andpatients with renaland hepaticfailure:physiologicaland pathologicalvariability

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Chinese medical Journal 1999年第9期 67-67页

作者： umingLi H.W.Woitge R.Ziegler m.J.Seibel

Serrum immunoreactive bone sialoprotein (BSP) is a non collageneous protein of bone and although it is mainly synthesized by osteoblasts, it is believed that its quantification represents processes preferentially linked to bone resorption. This effect may be due to the protein's role in cell matrix adhesion processes in attachment of osteoclasts to bone. To determine the physiological and pathological variability, serum levels of BSP (by ria) were studied in: ① 54 healthy children aged 0-20 years (m/F: 30/24); ② healthy males (n=74); ③healthy pre (n=91) and postmenopausal (n=71) females; ④ patients with renal (RF; n=20) and hepatic (HF; n=20) failure In a subgroup of 10 healthy adults aged 23-39 years (m/F: 5/5),day to day variability (one measurement on 10 consecutive days), and the circadian variation (measurements at 08, 10, 12, 14, 16, 18, 20, 24, 04, and 08 years) were evaluated. Serum BSP was compared with serum C terminal crosslinked telopeptide of type I collagen (CTX; by ELISA), and urinary total deaxypyridiniline (DPD; by HPLC). In children, the highest values were found during early childhood and the pubertal growth spurt. Postmenopausal females had significantly higher mean BSP levels than premenopausal females (9.22±4.94 vs 7.82±3.30; P menopause. No significant correlations were found between serum BSP and weight, height, or body mass index (IBm), in any of the groups of healthy individuals. The day to day variability of BSP ranged between 7.3% and 14.8% (mean 9.6%). Circadian variation showed a maximum amplitude of approx. ±20% at a mean BSP concentration of 10.4?ng/ml with peak values between 04 and 08 hours, followed by a steady decline until noon time. RF was associated with higher levels of serum BSP and CTX, and of urinary DPD. Both BSP ( r =-0.67, P < 0.001) and CTX ( r =-0.59, P <0.001) showed an inverse correlation with the creatinine clearance. HF patients had highe

关键词： Serum children

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人胰岛素原C肽单克隆抗体的研究

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中国医学科学院学报 1989年第1期11卷 46-51页

作者：吴从愿 N.Yanaihara C.Yanaihara m.Hoshino 协和医院 The National Institute for physiological Sciences Okazaki 444 Japan

半抗原人胰岛素原C肽(HCP)对小鼠的免疫原性,以蛔虫蛋白作为载体远比牛或小鼠清蛋白为高。将NS-1瘤细胞与HCP-蛔虫蛋白结合物免疫的BALB/c小鼠脾细胞融合,获得12种抗HCP mcAb,对其中8种的Ig类和亚类,亲和力及特异性等进行了详细鉴定。... 详细信息

半抗原人胰岛素原C肽(HCP)对小鼠的免疫原性,以蛔虫蛋白作为载体远比牛或小鼠清蛋白为高。将NS-1瘤细胞与HCP-蛔虫蛋白结合物免疫的BALB/c小鼠脾细胞融合,获得12种抗HCP mcAb,对其中8种的Ig类和亚类,亲和力及特异性等进行了详细鉴定。不同的HCP片段置换反应结果表明,HCP mcAb的抗原决定簇分别位于HCP分子的23～31.22～31及1～22氨基酸区。20例正常成人空腹血浆HCP测定值,用兔多克隆抗血清ria(0.47±0.16pmol/ml)明显高于mCAb-1 ria(0.29±0.13 pmol/ml).

关键词：胰岛素 C肽单克隆抗体放免分析

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