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1.
糖尿病患者胰岛素基因启动子的突变检测和临床应用   总被引:1,自引:0,他引:1  
为探讨胰岛素基因启动于突变是否与中国人2型糖尿病相关,随机选择黑龙江省中国汉族2型糖尿病患者89例,应用聚合酶链式反应-单链构象多态性(PCR-SSCP)检测方法检测胰岛素基因启动子突变.结果显示:89例中国人2型糖尿病患者中未发现1例异常泳动变位.结论:胰岛素基因启动子突变可能不是中国人2型糖尿病的重要遗传因素.  相似文献   

2.
目的探讨血管紧张素Ⅰ转换酶(angiotensin Ⅰ-converting enzyme, ACE)基因多态性与糖尿病视网膜病和心肌梗塞之间的关联性.方法应用PCR技术,对1型糖尿病33例视网膜病患者和36例非视网膜病患者、2型糖尿病68例伴心肌梗塞患者和57例伴视网膜病患者以及190例无并发症患者的ACE基因插入/缺失型多态性进行了检测.结果 ACE基因与视网膜病之间无关联.而2型糖尿病心肌梗塞患者与非心肌梗塞患者比较, DD纯合子频率显著增高(41.2% vs 33.2%),D等位基因频率也显著增高,差异有显著性(P<0.05).结论 D等位基因(相对风险为1.50)和DD基因型(相对风险为1.33)可能是2型糖尿病心肌梗塞发生的风险因子.  相似文献   

3.
目的 探讨血管紧张素 转换酶 ( angiotensin - converting enzyme,ACE)基因多态性与糖尿病视网膜病和心肌梗塞之间的关联性。方法 应用 PCR技术 ,对 1型糖尿病 33例视网膜病患者和 36例非视网膜病患者、2型糖尿病 6 8例伴心肌梗塞患者和 5 7例伴视网膜病患者以及 190例无并发症患者的ACE基因插入 /缺失型多态性进行了检测。结果  ACE基因与视网膜病之间无关联。而 2型糖尿病心肌梗塞患者与非心肌梗塞患者比较 ,DD纯合子频率显著增高 ( 4 1.2 % vs 33.2 % ) ,D等位基因频率也显著增高 ,差异有显著性 ( P<0 .0 5 )。结论  D等位基因 (相对风险为 1.5 0 )和 DD基因型 (相对风险为 1.33)可能是 2型糖尿病心肌梗塞发生的风险因子  相似文献   

4.
目的 探讨胆固醇酯转运蛋白(cholesteyl ester transfer protein,CETP)基因多态性与2型糖尿病胰岛素抵抗的关系。方法 采用聚合酶链反应和酶切电泳方法对108例2型糖尿病患者进行CETP-TaqIB基因型分型,同时测定血脂、空腹胰岛素、胰岛素敏感指数和胰岛素抵抗指数。结果 正常对照组与2型糖尿病组等位基因频率和基因型分布无统计学意义;2型糖尿病甘油三酯(triglyceride,TG)、总胆固醇(total cholesterol,TC)、低密度脂蛋白胆固醇(low density lipoprotein cholesterol,LDL-C)和载脂蛋白B(apolipoprotein B,apoB)浓度各基因型间差异无统计学意义,而高密度脂蛋白胆固醇(high density lipoprotein cholesterol,HDL-C)、载脂蛋白A1(apolipoprotein A1,apoA1)、空腹胰岛素(fasting insulin,FINS)、胰岛素敏感性指数(insulin sensitivity index,ISI)和HOMA模型胰岛素抵抗指数(homeostasis model assessment-insulin resistance,HOMA-IR)各基因型间差异有统计学意义,HDL-C、apoA,和ISI B2B2型显著高于B1B1型,FINS和HOMA-IR B2B2型显著低于B1B1型;以胰岛素敏感性指数和HOMA-模型胰岛素抵抗指数为因变量进行多元回归分析,ISI和HOMA-IR与体重指数、收缩压、TC、HDL及基因型分型密切相关。结论 CETP-Taq IB基因多态性与2型糖尿病脂代谢及胰岛素抵抗密切关联,可能是胰岛素抵抗的重要遗传因素。  相似文献   

5.
目的 探讨胰岛素受体(insulin receptor,INSR)基因第8外显子Nsi I多态性与2型糖尿病的关系.方法 采用填写调查问卷,结合身高、体质量、空腹血糖、血压、三酰甘油、胆固醇、高密度脂蛋白等生理指标测定的方式,对四川凉山6个县市20岁以上汉族人群进行横断面研究.在横断面研究的基础上,以全部162例糖尿病患者为病例,按照年龄、性别与病例组进行1:1频数匹配,从非糖尿病研究对象中随机选取162例做为对照.采用多聚酶链式反应(PCR)结合限制性内切酶方法检测基因多态性.结果 2型糖尿病组与对照组INSR基因型频率及等位基因频率差异均无显著性.结论 INSR基因第8外显子Nsi I多态性似与四川凉山地区汉族人群2型糖尿病无关联.  相似文献   

6.
2型糖尿病是一种由遗传因素和环境因素相互作用所导致的复杂疾病。研究表明胰岛β细胞功能缺陷和胰岛素抵抗是导致2型糖尿病发生和发展的重要原因。与胰岛β细胞功能缺陷有关的基因主要有 CDKAL 1、CDKN 2 A/2 B、TCF 7 L 2等,而与胰岛素抵抗有关的基因主要有 PPAR-γ、HHEX、KCNQ 1等。众多大型临床试验研究结果显示,通过改变生活方式以及药物干预可以预防或延缓2型糖尿病的发生。本文综述了基因及其多态性与2型糖尿病胰岛β细胞功能缺陷和胰岛素抵抗的相关性及其作用机制的研究进展,并总结了在世界范围内预防2型糖尿病的基本策略。  相似文献   

7.
目的 研究血管内皮生长因子A(vascular endothelial growth factor A,VEGFA)基因单核苷酸多态性(single nucleotide polymorphism,SNP)rs9369425与中国汉族人中2型糖尿病的关系.方法 本研究入选1892例2型糖尿病患者和1808名正常对照者.测定临床变量包括体重指数、腰围、腰臀比以及口服糖耐量试验中空腹、糖刺激后120 min血糖、胰岛素,使用稳态评估模型估测胰岛素敏感性和胰岛β细胞功能.使用时问飞行质谱法对rs9369425进行检测.结果 rs9369425罕见等位基因为G,其在病例组中频率为10.8%,对照组中频率为11.3%,未发现rs9369425与2型糖尿病相关性(P=0.5086).分析其与各糖代谢相关临床指标亦未见到显著关联(P值均>0.05).结论 VEGFA基因rs9369425位点与中国人2型糖尿病无关,该基因区域是否存在其它变异参与2型糖尿病待进一步研究.  相似文献   

8.
9.
目的探讨云南彝族2型糖尿病与HLA—DQA1等位基因多态性的关联性。方法采用聚合酶链反应-序列特异性引物技术,对58例云南楚雄地区彝族2型糖尿病患者和同地区82名彝族正常对照者进行基因分型,做2型糖尿病与HLA—DQA1等位基因多态性的关联分析。结果云南彝族2型糖尿病组与彝族对照组比较,HLA-DQA1*0301等位基因频率明显高于对照组(P=0.002,RR=3.097);HLA—DQA1*0601等位基因频率明显低于对照组(P=0.025,RR=0.429),差异有统计学意义。结论HLA—DQA1*0301是云南彝族2型糖尿病的易感基因;HLA—OQAI*0601是云南彝族2型糖尿病的保护基因。  相似文献   

10.
目的 研究脂联素基因单核苷酸多态性(SNP)45(T/G)位点与宁夏汉族人群2型糖尿病之间的关系.方法 100例2型糖尿病患者和101例正常对照者,采用聚合酶链式反应--限制性内切酶长度多态性(PCR-RFLP)技术,对脂联素基因SNP45多态性位点进行基因分型,同时测定代谢参数.结果 2型糖尿病组SNP45位点GG基因型频率和G等位基因频率均高于正常对照组(P<0.05).结论 脂联素基因的SNP45多态性位点与宁夏汉族人群中2型糖尿病相关;GG基因型者具有2型糖尿病高易感性.  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   

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   

13.
About 1900, modern food selection and processing caused widespread epidemics 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 panhypovitaminosis B, i.e., a mixture of substrate beriberi and substrate pellagra resembling vitamin beriberi and pellagra but exhibiting as even more diverse endemic 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 primates. 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.
15.
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   

16.
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   

17.
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   

18.
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   

19.
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   

20.
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   

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