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1.
汉族人载脂蛋白E基因多态性对血脂、载脂蛋白和脂蛋白(a)水平的影响 总被引:6,自引:0,他引:6
应用PCR-RFLP技术研究我国汉族人群apoE基因型与等位基因频率分布特征,并分析apoE基因多态性对脂质代谢的影响。发现我国汉族人群apoEε3等位基因频率(83.2%)明显高于欧美人群,而ε4频率(7.5%)显著低于欧美人群。ε4与血清TC、LDL-C和apoB水平增加呈显著正相关。apoE等位基因变异对血清TG、HDL-C、apoAI及Lp(a)水平无明显影响。研究提示,apoE基因多态性影响血清脂质和脂蛋白水平,我国汉族人群apoE基因多态性特征可能与中国人群冠心病患病率明显低于欧美人群相关。 相似文献
2.
应用分子克隆技术,构建了含全长人B7-1cDNA(867bp)的逆转录病毒表达载体pLNC-hB7-1。以pCDM8-hB7-1为模板,5'引物为:ACCCTAAGCT,TCTGAATTCATGGGCCACAC,内含HindⅢ切点及起始密码ATG,3’引物为:CTTCTGCGTTAACTG-TTATACAGGGCGTAC,内含HpaI切点和终止密码TAA,经PCR扩增及电泳回收后得到纯化PCR产物,用内切每HindⅢ和Hpal消化后,定向插入经同样内切酶消化的pLNCX载体,获得含人B7-1cD… 相似文献
3.
目的:探讨强直性肌营养不良(DM)患及家系成员三核苷酸重复数CTG(胞嘧啶、鸟嘌呤)的变化与BAEP、TC帮ECG的关系。方法:用聚合酶链反应(PCR)扩增及DNA杂交法对5例临床诊断DM患及三个家系的16名成员进行DM基因的CTG重复数物BAEP、TC帮ECG测定。结果:10名正常人CTG重复数是30个,BAEP、TCD和ECG正常,5例DM病人CTG重复数均在80个以上,其中2例在1605 相似文献
4.
结核性淋巴结炎的组织细胞反应性增性变型 总被引:1,自引:0,他引:1
应用结核杆菌DNA123bp特异性序列片段为靶序列的多聚酶链反应(M.TB-PCR)技术,BCG免疫组化(BCG-IHC)技术和抗酸染色(AF)方法,对38例呈现组织细胞反应性增生-碎屑样坏死-嗜中性白细胞渗出病变的淋巴结石蜡包埋组织进行了分支杆菌/结核杆菌的回顾性检测。三种方法的综合阳性率为52.6%(20/38例)。AF,BCG-IHC和M.TB-PCR物各自性率分别为0.8%,26.3%和5 相似文献
5.
用反向点杂交法对广东地区35例重型β地中海贫血患儿及双亲的基因突变研究 总被引:4,自引:0,他引:4
为探讨临床对β地中海贫血(β-地贫)的快速基因诊断方法,应用PCR反向点杂交(reversedotblot,RDB)技术,对广东地区35例重型β地贫患儿及其双亲的基因突变特征进行了研究。结果显示:(1)广东重型β地贫基因突变可见7种类型:CD41-42(-TCTT),IVS2nt654(C→T)。TATAbox-28(A→G),CD17(A→T),βE(26)(G→A),CD71-72(+A)及CD14-15(+G),其结构比依次为:40%,28.6%,11.4%,7.1%,7.1%,7.1%,4.3%及1.4%,和13种基因组合形式;(2)基因突变类型不同致临床表型不同,β°纯合子临床多表现重症,发病早(3~6个月),靠输血维持生命;β°/β-(E或-28)双重杂合子多表现中间型或重型,发病年龄较晚,贫血较轻,输血较少,PCR-RDB技术不需依赖同位素、操作简便、快速,宜于临床推广应用。 相似文献
6.
本文报道用流式细胞分析技术,检测了28例多发性骨髓瘤(MM)患者和20名健康对照者外周血B细胞(CD20+)以及B、T和单核细胞中HLA-DR+细胞比率。结果发现,MM患者CD20+以及B、T及单核细胞中HLA-DR+细胞比率与正常对照组差异非常显著(P<0.01)。加入重组IL-4,可使8名MM患者CD20+、HLA-DR+CD20+、HLA-DR+单核细胞比率提高非常显著(P<0.01)。而在T细胞,P值则>0.05。我们认为由于IL-4分泌减少,一方面使多克隆B细胞激活及增殖受抑,另一方面使单核细胞HLA-DR抗原表达减少,抗原提呈能力下降可能是MM发生多克隆免疫球蛋白抑制的重要原因。 相似文献
7.
应用HLA-DRB,DQB1序列特异性引物PCR扩增方法,鉴定81例IDDM患者,7个家系和84例正常对照汉族人群的DRB基因多态性及IDDM的HLA-DR-DQ基因单体型。结果表明:(1)IDDM患者DRB1*03,DRB1*09等位基因频率明显高于对照组,其频率分别为8.64%v.s3.0%和28.4%v.s16.1(P〈0.05)。(2)患者中DRB1-DRB3/DRB1-DRB4基因型频率 相似文献
8.
本文报道用流式细胞分析技术,检测了28例多发性骨髓瘤(M M)患者和20名健康对照者外周血B细胞(CD^+20)以及B、T和单核细胞中HLA-DR^+细胞比率。结果发现,MM患者CD^+20以及B、T及单核细胞中HLA-DR^+细胞比率与正常对照组差异非常显著(P<0.01)。加入重组IL-4,可使8名MM患者CD^+20、HLA-DR^+CD^+20、HLA-DR^+单核细胞比率提高非常显著(P 相似文献
9.
中国人β地中海贫血的分子基础及产前诊断 总被引:7,自引:0,他引:7
β地中海贫血是一组高度异质性的遗传性血液病。中国人中已发现21种β地贫基因,其突变类型包括碱基替代、小的缺失和插入。我国南方常见的类型是密码子(CD)41-42(-TCTT)移码突变,IVS-2nt654(C→T)突变,CD17(A→T)突变,TATA盒nt—28(A→G)突变和CD71-72(+A)移码突变,其基因频率分别为41.6%、21.8%、18.0%和8.0%及3。9%。β地贫的突变类型及频率分布具有明显的地域差异和种族特征。近年来,由于β地贫分子病理的阐明及PCR扩增技术结合各种先进的.点突变检测方法的应用和发展,使β地贫的产前基因诊断已逐步走向临床。目前,在应用于这种高度异质性遗传病的各种分子诊断方法中,快速简便的反向点杂交(RDB)技术引人注目。 相似文献
10.
目的和方法:探讨中国湖北汉族重症肌无力(MG)患者与HLA-Ⅱ类等位基因的关联。利用PCR/SSP和PCR-RFLP技术对湖北地区91例MG患者进行HLA-Ⅱ类(HLA-DRB1、DQB1和DPB1)基因型别分析,民168例正常个体比较。结果:患者组(1):HLA-DRB1*0901、DQB1*0303和DPB1*0501等位基因频率明显高于对照组,RR值分别为4.12、3.04和3.01,P〈0 相似文献
11.
Renal dysplasia and asplenia in two sibs 总被引:2,自引:0,他引:2
A family is reported in which two sibs, one male and the other female, both died within 24 hours of birth with enlarged polycystic kidneys. Postmortem histology in the second child showed gross renal dysplasia. In both children the pancreas was enlarged, nodular and cystic but the liver appeared macroscopically normal. In the second child, histological examination confirmed pancreatic fibrosis with cystic dilation of ducts, but showed portal fibrosis with bile duct proliferation in the liver.
This combination of findings is very reminiscent of those in a girl and her brother reported by Ivemark et al. (1959). The children reported here also showed absence or hypoplasia of the spleen, cardiac anomalies and other features of the Ivemark syndrome (Ivemark 1955), a quite different, usually sporadic, congenital disorder. It is suggested that the children described here have a distinct lethal congenital disorder, probably inherited in an autosomal recessive manner. 相似文献
This combination of findings is very reminiscent of those in a girl and her brother reported by Ivemark et al. (1959). The children reported here also showed absence or hypoplasia of the spleen, cardiac anomalies and other features of the Ivemark syndrome (Ivemark 1955), a quite different, usually sporadic, congenital disorder. It is suggested that the children described here have a distinct lethal congenital disorder, probably inherited in an autosomal recessive manner. 相似文献
12.
Over 200 schizophrenic patients belonging to three major and interrelated pedigree complexes have been investigated over the past 30 years in a North Swedish geographically isolated population, presently numbering about 6,000. An intensive investigation of a number of biochemical correlates and genetic markers in a few selected families belonging to one of the major pedigrees has indicated new strategies for the current research program.
Schizophrenia, as defined operationally, is significantly associated with decreased activities of two enzymes (1) blood platelet monoamine oxidase, (2) plasma dopamine-β-hydroxylase, and (3) with the genetic marker Gc2 (group specific antigen). Both enzymes are subject to genetic variation. A positive score for linkage between schizophrenia and low plasma DBH activity has been calculated, but, so far, available data are insufficient for discrimination between linkage and partial contribution of genetically controlled low plasma DBH to the pathogenesis of the disease. Alternatively, both mechanisms could be involved.
As a model for continued research, schizophrenia is explained as based on a double dominant-recessive genotype (Aabb), representing a vulnerability which in about 50 % of cases develops into clinical schizophrenia. It is suggested that the dominant mutation (A) operates on or affects MAO activity, and that the recessive genotype (bb) is instrumental in low variates of DBH activity and very likely such variates within the normal range of physiological variation. Moreover, it is suggested that the combined effects of MAO- and DBH-reduced efficiency on the metabolism of e.g. dopamine could be an essential pathogenic mechanism for the schizophrenic illness which is segregating in this population. 相似文献
Schizophrenia, as defined operationally, is significantly associated with decreased activities of two enzymes (1) blood platelet monoamine oxidase, (2) plasma dopamine-β-hydroxylase, and (3) with the genetic marker Gc
As a model for continued research, schizophrenia is explained as based on a double dominant-recessive genotype (Aabb), representing a vulnerability which in about 50 % of cases develops into clinical schizophrenia. It is suggested that the dominant mutation (A) operates on or affects MAO activity, and that the recessive genotype (bb) is instrumental in low variates of DBH activity and very likely such variates within the normal range of physiological variation. Moreover, it is suggested that the combined effects of MAO- and DBH-reduced efficiency on the metabolism of e.g. dopamine could be an essential pathogenic mechanism for the schizophrenic illness which is segregating in this population. 相似文献
13.
Donald O. Rudin 《Medical hypotheses》1982,8(1):17-47
About 1900, modern food selection and processing caused widespread of the B vitamin deficiency diseases of beriberi and pellagra which, for genetic reasons, often expressed as different diseases ranging from bowel and heart disease to dermatoses and psychoses. But the B vitamins merely help convert essential fatty acids (EFA) into the prostaglandin (PG) tissue regulators and it now turns out that, through hydrogenation, milling and selection of w3-poor southern foods, we have also been systematically depleting, by as much as 90%, a newly discovered trace Nordic EFA (w3) of special importance to primates and sole precursor of the PG3(4) series, even as a concurrent fiber deficiency increases body demand for EFA. Since substrate EFA is processed by many B vitamin catalysts, an EFA deficiency will mimic a ypovitaminosis B, i.e., a mixture of beriberi and pellagra resembling vitamin beriberi and pellagra but exhibiting as even more diverse disease. This would consitute a second stage of the Modern Malnutrition and explain why some workers now hold the dominant diseases of modermized societies to be new, nutritionally based, pellagraform yet lipid-related and to range, once again, from heart disease to psychosis. It is an assumption that our dominant diseases are unrelated to each other or are merely revealed by our diagnostic acumen and therapeutic success; and that hydrogenating millions of tons of food oils annually, to destroy the rancidity producing w3-EFA, is safe for . Extensive beriberiform disease is reported here in 32 typical cases taken from medical practice which responds strikingly to linseed oil supplements (60% w3-EFA) in confirmation of identical results in Capuchins. 相似文献
14.
Marita Troye-Blomberg Charles Arama Jaclyn Quin Ioana Bujila Ann-Kristin Östlund Farrants 《Scandinavian journal of immunology》2020,92(4):e12932
There are an estimated over 200 million yearly cases of malaria worldwide. Despite concerted international effort to combat the disease, it still causes approximately half a million deaths every year, the majority of which are young children with Plasmodium falciparum infection in sub-Saharan Africa. Successes are largely attributed to malaria prevention strategies, such as insecticide-treated mosquito nets and indoor spraying, as well as improved access to existing treatments. One important hurdle to new approaches for the treatment and prevention of malaria is our limited understanding of the biology of Plasmodium infection and its complex interaction with the immune system of its human host. Therefore, the elimination of malaria in Africa not only relies on existing tools to reduce malaria burden, but also requires fundamental research to develop innovative approaches. Here, we summarize our discoveries from investigations of ethnic groups of West Africa who have different susceptibility to malaria. 相似文献
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16.
Antonio Arnaiz-Villena Jose Palacio-Grüber Ignacio Juarez Ennio Hernández Ester Muñiz Brayan Bayona Cristina Campos Jorge Nieto Manuel Martin-Villa Carlos Silvera 《Human immunology》2018,79(4):189-190
HLA-A,-B,-C,-DRB1 and -DQB1 alleles have been studied in Chimila Amerindians from Sabana de San Angel (North Colombian Coast) by using high resolution molecular typing. A frequent extended haplotype was found:HLA-A*24:02-B*51:10-C*15:02-BRB1*04:07-DQB1*03:02 (28.7%) which has also been described in Amerinndian Mayos Mexican population (Mexico, California Gulf, Pacific Ocean). Other haplotypes had already been found in Amerindians from Mexico (Pacific and Atlantic Coast), Peru (highlands and Amazon Basin), Bolivia and North USA. A geographic pattern according to HLA allele or haplotype frequencies is lacking in Amerindians, as already known. Also, five new extended haplotypes were found in Chimila Amerindians. Their HLA-A*24:02 high frequencies characteristic is shared with aboriginal populations of Taiwan; also, HLA-C*01:02 high frequencies are found in New Zealand Maoris, New Caledonians and Kimberly Aborigines from Australia. Finally, this study may show a model of evolutionary factors acting and rising one HLA allele frequency (-A*24:02), but not in others that belong to the same or different HLA loci. 相似文献
17.
Newton H 《Medical history》2011,55(2):153-182
Sick children were ubiquitous in early modern England, and yet they have received very little attention from historians. Taking the elusive perspective of the child, this article explores the physical, emotional, and spiritual experience of illness in England between approximately 1580 and 1720. What was it like being ill and suffering pain? How did the young respond emotionally to the anticipation of death? It is argued that children’s experiences were characterised by profound ambivalence: illness could be terrifying and distressing, but also a source of emotional and spiritual fulfilment and joy. This interpretation challenges the common assumption amongst medical historians that the experiences of early modern patients were utterly miserable. It also sheds light on children’s emotional feelings for their parents, a subject often overlooked in the historiography of childhood. The primary sources used in this article include diaries, autobiographies, letters, the biographies of pious children, printed possession cases, doctors’ casebooks, and theological treatises concerning the afterlife. 相似文献
18.
C. R. Lipton J. X. Dautlick G. D. Grothaus P. L. Hunst K. M. Magin C. A. Mihaliak F. M. Rubio J. W. Stave 《Food and Agricultural Immunology》2000,12(2):153-164
Recent advancements in agricultural biotechnology have created a need for analytical techniques to determine introduced proteins in crops enhanced through modern biotechnology techniques. These proteins are expressed in plant tissues and may be present in food ingredients. Immunoassays are ideally suited for protein detection and may be used as both quantitative and threshold methods. Microplate ELISA and lateral flow devices are two of the most commonly used immunoassay formats for agricultural biotechnology applications. This paper provides general background information and a discussion of criteria for the validation and application of immunochemical methods to the analysis of proteins introduced into plants and food ingredients using biotechnology methods. It is the result of a collaborative effort of members of the Analytical Environmental Immunochemical Consortium. This collaborative effort represents the combined expertise of several organizations to reach consensus on establishing guidelines for the validation and use of immunoassays. Further, the paper offers developers and users a consistent approach to adopting the technology as well as aid in producing accurate and meaningful results. 相似文献
19.
Ultracryotomy: development and application (with examples from the yeast cytology) (author's transl)
Konrad Joachim Böhm 《Acta histochemica》1980,66(1):59-84
The preparation steps usually necessary for obtaining ultrathin frozen sections of biological material (chemical prefixation, enclosing, cryoprotective treatment, freezing, sectioning, and post-staining the sections for transmission electron microscopy) are submitted to a critical analysis. The application of cryo-ultramicrotomy, in particularly for cytochemical purposes, is reviewed. Fundamental considerations of chemical prefixation and poststaining are supported by examples from yeast cytology. Furthermore, the efficiency of the cryo-ultramicrotomy (electron optical resolution of ultrastructural details) is demonstrated on yeast cells and protoplasts. 相似文献
20.
M G Baggot 《Medical hypotheses》1979,5(5):591-597
Starting with the integument, we see many organs are contractile sacs or multiples thereof, which tubes or bags constitute the major part of the entire body. Recognition of this basic unit and its characteristics sheds new light, individually and collectively, on many disorders previously considered unrelated. Muscular tears and perforations develop in the walls of these chambers, being no way peculiar to those organs, wherein, hydrochloric acid occurs. So, it is not necessary to explain the absence of excessive acid from patients who exhibit holes in the gastric, uterine, aortic, duodenal, rectal, pulmonary, retina, and other walls. Muscle, not acid is the great common factor relating idiopathic disorders in the gastrointestinal tract to each other and to similar diseases in other systems. When the units are linked together, the lesions tend to appear as arthropathies, i.e. at the joints. Rephrasing common-place observations, frees us from conventional, conceptual cul-de-sacs. An observation is only as good as its interpretation, so all possibilities must be considered, otherwise, we will remain blinded by our misconceptions. 相似文献