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基因     
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  gene
    Investigation of Melatonin Receptor subtype Protein and Gene Expression in Human Embryos
    人胚胎组织褪黑素受体亚型蛋白和基因表达的研究
短句来源
    An experimental study on the gene therapy of rheumatoid arthritis by antisense vasculuar endothelial growth factor(VEGF)transfection
    类风湿性关节炎的反义VEGF基因治疗实验研究
短句来源
    Sp3 Gene's Organization and the Genetic Relativity with Multiple Sclerosis
    Sp3基因结构及其与多发性硬化遗传相关性研究
短句来源
    Mapping the Disease Gene in a Disseminated Superficial Actinic Porokeratosis Family and Study Susceptibility Genes of Late-onset Type 2 Diabetes Mellitus
    对一个弥漫性浅表性光敏性汗孔角化症家系致病基因的定位和对迟发型2型糖尿病易感基因的研究
短句来源
    Study on the Polymorphisms and Function of the Insulin Receptor Substrate-1 (IRS-1) Gene 5'-flanking Region in Chinese Patients with Type 2 Diabetes Mellitus
    2型糖尿病患者胰岛素受体底物-1(IRS-1)基因5'-侧翼调控序列多态性与功能的研究
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  genes
    Mapping the Disease Gene in a Disseminated Superficial Actinic Porokeratosis Family and Study Susceptibility Genes of Late-onset Type 2 Diabetes Mellitus
    对一个弥漫性浅表性光敏性汗孔角化症家系致病基因的定位和对迟发型2型糖尿病易感基因的研究
短句来源
    Study on Differential Expressed Genes in Skeletal Muscles of the Type 2 Diabetes Patients with Insulin Resistance by cDNA Microarray
    应用基因芯片技术筛选2型糖尿病骨骼肌胰岛素抵抗相关基因及其鉴定
短句来源
    Study on Differentially Expressed Genes in Graves Disease and Papillary Thyroid Carcinoma by cDNA Microarray
    应用基因芯片技术对Graves病、甲状腺乳头状癌相关基因表达的研究
短句来源
    Molecular Scanning on MODY Genes in Chinese Early Onset Familial Type 2 Diabetes
    中国人早发2型糖尿病家系中MODY基因缺陷的分子筛查
短句来源
    Tests for the Complex Relationship of Osteoporosis Related Phenotypes and Nine Bone Candidate Genes
    九个骨候选基因与骨质疏松相关表型的复杂关系检测
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  dna
    Familial Investigation and Detection with DNA Probe for Neurofibromatosis in 4 Generations
    神经纤维瘤病4代家系调查及基因探针检测
短句来源
    DNA polymorphism in the apolipoprotein AI-CIII gene region:its association with hyperlipidemias in children
    高脂血症患儿载脂蛋白AI-CIII基因区限制性片段长度多态性研究
短句来源
    DNA DIAGNOSIS OF FRIGILE X SYNDROME
    脆性X综合征一家系八例的基因诊断
短句来源
    DNA TYPING FOR HLA DR AND HLA DQ ALLELES IN CHINESE PATIENTS WITH RHEUMATOID ARTHRITIS
    汉族类风湿关节炎患者 HLA-DR 和-DQ 基因分型研究
短句来源
    Methods DNA was extracted from peripheral blood of the proband and her parents. The GJB2,GJB6 and GJB3 gene mutations were analyzed by direct sequencing PCR products.
    方法采集先证者及其父母外周血并提取DNA,对GJB2、GJB6、GJB3基因编码区进行PCR扩增,以直接测序的方法进行突变分析。
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  allele
    Conclusions ε4 allele of ApoE gene is associated with higher risk for the development of coronary heart disease with type 2 diabetes patients.
    结论携带ApoE基因ε4等位基因增加2型糖尿病合并冠心病的危险性。
短句来源
    Age, food habit, education received and the other factors were related to BMD. Allele TA21,1730G/A polymorphism and CA re-polymorphism of ERB gene locus were positively correlated to thighbone BMD.
    低密度受体相关蛋白5(LRP5)多态性位点显示,ERB基因位点1730G/A多态性与股BMD显著相关,ERB的CA的重复多态性与股骨颈BMD相关。
短句来源
    In the subjects carrying allele of MPO rs7208693 A, the risk of BP increased for the individuals carrying allele of UGT1A6 rs6759892 G (OR=2.702,P=0.024) compared to those with TT genotype or the individusals carrying allel of UGT1A6 rs1105879 C (OR=2.619, P=0.035) compared to those with TT genotype.
    携带MPO基因rs7208693A等位基因人群中,UGT1 A6 rs6759892G等位基因个体发生慢性苯中毒的危险性是TT基因型的2.702倍(P=0.024),UGT1 A6 rs1105879C等位基因个体发生慢性苯中毒的危险性是TT型的2.619倍(P=0.035)。
短句来源
    Conclusion The subjects carrying allele of MPO rs7208693 A and UGT1A6 rs6759892 G or rs1105879 C at the same time could be more susceptible to BP.
    结论同时携带MPO基因rs7208693A和UGT1A6基因rs6759892G或rs1105879C等位基因型个体对苯中毒易感;
短句来源
    The levels of apoE ranked with E2/3 > E3/3 > E3/4. CONCLUSION: The apoEε4 allele frequencies are associated with hyperlipidemia, and the polymorphisms of apoE may be a genetic factor for hyperlipidemia.
    载脂蛋白E水平顺序是E2/3>E3/3>E3/4。 结论:载脂蛋白Eε4等位基因与高脂血症有关,载脂蛋白E基因多态性可能是高脂血症患者的遗传因素。
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  gene
NEW TECHNOLOGY FOR DRUG DISCOVERY BASED UPON INSERTION OF LIGANDS INTO GENE SEQUENCES BY NUCLEAR RECEPTOR PROTEINS
      
A gene regulatory mechanism has been proposed in which steroid hormones and certain other drugs bind to nuclear receptor proteins followed by transfer to DNA where they are inserted between base pairs.
      
Polymerase chain reaction was used to amplify a 439-bp fragment of a 65,000-kDa (Mr) heat shock protein gene (hsp65) of Mycobacterium.
      
Cloning of an APETALA3 homologous gene (PtAP3) from Populus tomentosa and genetic transformation of its sense and anti-sense con
      
A pair of primers were designed according to published literature on Populus trichocarpa gene (PTD), and PtAP3, an AP3 homologous gene from Populus tomentosa was isolated by PCR using genomic DNA of the male clone of P.
      
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  genes
Simultaneous introduction of multiple genes into plants is a critical step in plant genetic engineering to manipulate multiple functional genes in metabolic engineering and trait stacking.
      
It is important to construct a bidirectional promoter for transforming two or more genes into plants simultaneously.
      
The transient expression of the gusA and gfp genes were detected by histochemical staining for GUS and by fluorescence microscopy for GFP.
      
At present, this procedure can be used to evaluate the genetic effect of individual major genes (up to two to three major genes), the collective genetic effect of polygene, and their heritability value.
      
Molecular mapping of two semidwarf genes in an indica rice variety Aitaiyin3 (Oryza sativa L.)
      
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  dna
A gene regulatory mechanism has been proposed in which steroid hormones and certain other drugs bind to nuclear receptor proteins followed by transfer to DNA where they are inserted between base pairs.
      
Here, we report using the estrogen receptor that the location of drugs in x-ray crystal structures of the receptors matches closely their predicted spatial locations in the DNA.
      
These findings provide compelling evidence that DNA is the ultimate target of these drugs that act on the human genome.
      
In the present study, two of the probable an umor marine compounds, manzamine A and sarcophine, were screened using benzo[a]pyrene (BP)-derived DNA adduct formation in MCF-7 cells as intermediary biomarker.
      
After 24h incubation, cellular DNA was isolated and analyzed for BP-derived DNA adducts by 32P-postlabeling technique.
      
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  allele
A tendency of clinal distribution of allele frequency was observed at three loci.
      
The frequency of the moderately migrating allele Me-c (0.318-0.740) in A.
      
Such tendency suggests that the allele frequency in these three loci may be correlated with the species' geographic distributions.
      
The results showed relatively high genetic diversity of the population with the mean value of allele number (A) being 2.88, expected heterozygosity (He) 0.431, Shannon diversity index (I) 0.699, and percentage of polymorphic loci (P) 100%.
      
The T allele was 51.4% in hypertensive subjects and 51.2% in normotensive subjects, which, between the two groups, was not a significant difference (χ2 = 0.0016 P = 0.97).
      
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  其他


In this paper 27 cases of oculopha-ryngeal muscular dystrophy are repor-ted. The 27 patients are some of the49 descendants from one family for aperiod of 5 generations. The patientⅢ 5, 43 years old, came to our out-patient department for consultation in1981, complaining of bilateral ptosisfor 8 years, of external ophthalmo-plegia for 3 years and of difficulty inswallowing for 2 years. In his familyhistory, it was found that there were26 patients having clinical symptomssimilar to those of this patients. 23patients...

In this paper 27 cases of oculopha-ryngeal muscular dystrophy are repor-ted. The 27 patients are some of the49 descendants from one family for aperiod of 5 generations. The patientⅢ 5, 43 years old, came to our out-patient department for consultation in1981, complaining of bilateral ptosisfor 8 years, of external ophthalmo-plegia for 3 years and of difficulty inswallowing for 2 years. In his familyhistory, it was found that there were26 patients having clinical symptomssimilar to those of this patients. 23patients survived and 4 patients died.The age range of onset was 3~20years. The course of illness was 1~42years. The initial symptom was pto-sis, which usually occurred in all pa-tients. 15 patients had hoarsness andswallowing difficulty. 16 patients hadthe sign of external ophthalmoplegia.2 patients felt weakness of orbicularmuscles of eye and mouth. One patientexperienced weakness of neck muscles.Both the abnormal electromyographicchanges and muscular biopsy findingswere compatible with those of primarymuscular dystrophy. There was aslight increase of the levels of serumCPK and serum LDH in 8 patients. From pedigree analysis, this dis-ease is a genetic disease with autosomaldominance. Several members in everygeneration, both females and males,were affected and the number of pa-tients was over 50%. On examinationthe chromosomal patterns in 3 patientswere normal. It is suggested that thepathogenic gene might be transmitted tothe descendants. This resulted in theoccurrence of the disease. However, in our patients, the aver-age age of onset was rather young andabout half of the patients had externalophthalmoplegia. It is evident thatthese manifestations differ from thegenetically determined, typical oculo-pharyngeal muscular dystroohy. Sotheir disease should be considered as avariant of oculopharyngeal musculardystrophy. We consider that the patho-genic gene probably produces muta-tion or the phenotype may not be thesame as that of the typical oculo-pharyngeal muscular dystrophy.

本文报告一家系五代49个成员中27人罹患眼咽型肌营养不良症的临床和遗传分析。患者均有眼睑下垂,16例伴眼外肌麻痹,15例有咽喉肌麻痹,仅2例轻度面肌及双上肢近端肌无力,8例患者血清CPK及LDH_1的均值增高。根据家系分析属常染色体显性遗传,3例染色体核型分析正常。其临床表现与典型的家族性哏咽型肌营养不良症不完全相同,故本组病例的疾病基因可能发生了变异。

In 1979~1982, genealogies of 222 pafients with diabefies were investigated in Bengbu area.

我们于1979~1982年间,在蚌埠地区对222例糖尿病患者的家谱作了研究.本组糖尿病阳性家族史的发生率为10.8%.糖尿病的遗传方式为多基因遗传,除2个连续世代(遗传)符合于常染色体显性遗传的理论(假设).糖尿病的遗传度为50.94%,这似可提示在糖尿病的发病上有遗传和环境因素的相关作用.

The pheny thiocaramid (PTC) gustatory ability of 101 hyperthyroidism patients and 146 edmic goiter patients have been tested by thresholds method. It is discovered that the PTC taste-blindness percentage, peak value of gustatory ability and recessive gene frequency of hyperthyroidism patients are effectively higher than the normal people. Hyperthyroidism inheritance type may be as multiple gene inherited disease and relatively to the character and manner of single non-dominant inheritance.

本文对101例甲亢病人及146例地甲病人用阈值法作PTC尝味能力测定,发现甲亢病人PTC味盲百分率、尝味能力峰值及隐性基因频率均明显高于正常人,考虑甲亢遗传方式为多基因遗传病,但与单基因不显性遗传的性状,有相关性。

 
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