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91.
目的:探讨钙调神经磷酸酶编码基因多态性与优秀耐力运动员运动能力的关联性。方法:应用case-control实验设计,分析55个单核苷酸多态性在123名优秀耐力运动员和125名对照组的分布特征。采用双荧光素酶报告基因的方法初步分析关联多态性的功能意义。结果:1)基因型或等位基因在优秀运动员与对照组分布频率有显著差异(P<0.05)的位点有11个,但经过多重比较的修正后达到显著差异(P<0.01)的仅有2个。2)PPP3 CArs3804358 C等位基因的分布频率在优秀运动员组(17%)显著高于对照组(8%)(P=0.003),而PPP3 CB rs3763679 T等位基因在优秀运动员组(23%)显著低于对照组(37%)。3)携带rs3804358 C或rs3763679 C等位基因的报告基因相对荧光素酶活性显著高于相应的携带rs3804358 G或rs3763679 T等位基因的荧光素酶活性。结论:rs3804358和rs3763679多态性与优秀耐力运动员运动能力关联,并且这2个多态性影响基因转录。  相似文献   
92.
Objective: There are many reports on associations between spermatogenesis and partial azoospermia factor c (AZFc) deletions as well as duplications; however, results are conflicting, possibly due to differences in methodology and ethnic background. The purpose of this study is to investigate the association of AZFc polymorphisms and male infertility in the Yi ethnic population, residents within Yunnan Province, China. Methods: A total of 224 infertile patients and 153 fertile subjects were selected in the Yi ethnic population. The study was performed by sequence-tagged site plus/minus (STS+/−) analysis followed by gene dosage and gene copy definition analysis. Y haplotypes of 215 cases and 115 controls were defined by 12 binary markers using single nucleotide polymorphism on Y chromosome (Y-SNP) multiplex assays based on single base primer extension technology. Results: The distribution of Y haplotypes was not significantly different between the case and control groups. The frequencies of both gr/gr (7.6% vs. 8.5%) and b2/b3 (6.3% vs. 8.5%) deletions do not show significant differences. Similarly, single nucleotide variant (SNV) analysis shows no significant difference of gene copy definition between the cases and controls. However, the frequency of partial duplications in the infertile group (4.0%) is significantly higher than that in the control group (0.7%). Further, we found a case with sY1206 deletion which had two CDY1 copies but removed half of DAZ genes. Conclusions: Our results show that male infertility is associated with partial AZFc duplications, but neither gr/gr nor b2/b3 deletions, suggesting that partial AZFc duplications rather than deletions are risk factors for male infertility in Chinese-Yi population.  相似文献   
93.
Platelet-endothelial cell adhesion molecule-1 (PECAM-1) has role in atherosclerotic plaque development as well as in thrombosis leading to myocardial infarction (MI). Present study was aimed to analyse the association of PECAM-1 Leu125Val gene polymorphism with MI in Indian population. Subjects included healthy individuals as control (N = 116) and MI patients (N = 100) divided into two groups; MI patients at presentation of the acute event (MI-Group-1, N = 46) and patients with recent event of MI stabilized with treatment 4.5 days from their symptoms (MI-Group-2, N = 54). The difference in the distribution of Leu125Val genotype frequencies of controls and patients did not reach statistical significance. However Leu allele frequency (0.57) was more associated with MI patients as compared to control (0.504). sPECAM-1 levels were significantly elevated in patients at acute event of MI (MI-Group-1) by 44.1% (P = 0.009) as compared to controls and by 95.2% (P = 0.001) as compared to stabilized MI patients (MI-Group-2).  相似文献   
94.
研究目的 :探讨了 mt DNA D- loop多态性与澳大利亚自行车运动员的 VO2 max及优异耐力成绩的关系。研究结果 :前期研究发现虽然运动员组和对照组 VO2 max有显著性差异 ,但 mt DNA D- loop的多态性在两组的分布频率没有显著性差异  相似文献   
95.

Background

A lot of studies have demonstrated that C242T polymorphism in CYBA genes may play an important role in the pathological process of acute coronary syndrome (ACS). However, the results are not consistent. To further evaluate this debate, we performed a meta-analysis to determine the relationship between C242T polymorphism and ACS.

Methods and results

We screened PubMed/MEDLINE, EBSCIO, and EMBASE research reports until Mar. 2014 and extracted data from 10 studies involving 6102 ACS patients and 8669 controls. Subgroup analysis by ethnicity documented a significant decreased risk of ACS for C242T polymorphism in the Asian population under allelic comparison (odd ratio (OR) 0.73; 95% confidence intervals (CI) 0.64–0.83), dominant model (OR 0.71; 95% CI 0.62–0.82), and homozygote comparison (OR 0.57; 95% CI 0.35–0.92). However, in the overall population and especially with Caucasians, no significant association was uncovered. Further meta-regression analysis revealed that the heterogeneity among studies was largely attributed to ethnicity. No publication bias was detected through a funnel plot and an Egger’s linear regression test.

Conclusions

Taken together, our results suggest that the C242T polymorphism might be a protective factor against developing ACS in the Asian population. Further researches will be needed to identify the confounding factors which modified the protective effect of T allele among Caucasians.
  相似文献   
96.
Ankle sprains are one of the most severe musculoskeletal soft tissue injuries during physical activity. Although many risk factors have been offered, it is unclear why some individuals develop noncontact ankle sprains when participating in comparable levels of physical exertion under identical environmental conditions and others do not. The ACTN3 gene that encodes the α-actinin-3 protein, which is, only expressed in the Z line of fast glycolytic muscle fibres was found to associate with power/strength performance. The aim of this study was therefore to investigate whether the ACTN3 gene polymorphism is associated with noncontact acute ankle sprains. One hundred and forty-two participants with clinically diagnosed noncontact acute ankle sprains as well as 280 physically active controls participants without any history of ankle sprains were included in this case–control genetic association study. The RR genotype (odds ratio (OR) = 0.56; 95% confidence interval (CI), 0.32–0.65, P = 0.011) and R allele (OR = 0.64; 95% CI, 0.37–0.68, P = 0.002) of the ACTN3 were significantly low-represented in the acute ankle sprains group compared with the control group. The ACTN3 R577X is associated with acute ankle sprains in Chinese participants in this study. This is the first study to suggest that an individual with a RR genotype is at a decreased risk of acute ankle sprains.  相似文献   
97.
目的:研究急性高山病(AMS)发生及低氧运动习服中血清ET-1水平的变化趋势及ET-1基因多态与其水平的关系。方法:Phase 1:模拟海拔4 800 m低氧环境,49名北方汉族大学生急性暴露6 h,入舱30min后以恒定负荷蹬车20 min,常氧安静(NMⅠ)和急性低氧暴露结束(HYⅠ)时测定血清ET-1水平。Phase 2:恢复1周后,48名受试者在模拟环境下进行3周渐进式低氧训练。恢复1周,重复Phase 1的低氧暴露和运动,常氧安静(NMⅡ)和急性低氧暴露结束(HYⅡ)时测定ET-1水平。PCR-RFLP法检测受试者ET-1基因T8000C及G5665T位点基因型和等位基因频率。结果:1)低氧暴露后受试者的ET-1水平上升不显著,AMS组与非AMS组间的ET-1变化量△1(HYⅠ-NMⅠ)差异也不显著。3周低氧训练后,低氧习服与未习服组的ET-1水平在再次低氧暴露后均上升,上升幅度△4(HYⅡ-NMⅡ)均比初次暴露时(△3(HYⅠ-NMⅠ))增多,但仅低氧习服组的ET-1水平和△4上升显著。2)G5665T及T8000C位点不同基因型和等位基因携带者的AMS发生率及AMS评分变化趋势差异均不显著。低氧暴露后,G5665T/GG和T8000C/TT组的ET-1水平上升,G5665T/GT+TT和T8000C/TC+CC组的ET-1水平下降,但各组的ET-1水平变化及组间的ET-1变化量△1(HYⅠ-NMⅠ)差异均不显著。3周低氧训练后,各基因型组的ET-1水平在低氧暴露后均比NMⅡ时上升,变化幅度△4(HYⅡ-NMⅡ)均比初次暴露后(△3(HYⅠ-NMⅠ))增加,但差异均不显著。结论:1)血清ET-1水平对低氧不敏感,ET-1变化量△1不能作为AMS易感性辅助评价指标。3周低氧训练后,低氧习服与未习服组的ET-1水平在再次低氧暴露后变化程度不同,导致两组低氧习服效果迥异。2)G5665T和T8000C位点不是AMS易感及低氧习服的遗传学标记。G5665T与T8000C位点不同基因型组的ET-1水平在初次低氧暴露时变化趋势不同,在再次低氧暴露时变化趋势相同,但ET-1水平变化仅与低氧有关,与基因多态无关。  相似文献   
98.
目的探讨AR基因外显子1(CAG)n重复多态性在中国北方汉族男性群体的分布特征以及其与跑节省化初始值及训练敏感性的关联性。方法对101名无训练史的健康男子进行18 w的耐力训练,测定训练前后12 km/h跑速下的跑节省化相关指标。GeneScan加测序的方法分析AR基因(CAG)n多态性。结果(1)中国北方汉族男性人群中AR基因(CAG)n重复多态存在15种等位基因,其中(CAG)22次重复等位基因分布频率最高,达到19%;(2)连续分割方法划分基因型,发现≤23次重复组RE的VO2初始值显著高于>23次重复组;但不同基因型的RE的训练敏感性没有显著性差异。结论AR基因(CAG)n重复多态性与跑节省化的初始值存在关联,但与训练效果无关联性。  相似文献   
99.
单核苷酸多态性在运动人体科学中的作用   总被引:2,自引:0,他引:2  
单核苷酸多态性(SNPs)是基因组中最常见的一种遗传模式。随着人类基因组计划的完成,人们越来越重视它的医学意义和应用,特别是利用SNPs进行连锁分析和关联分析,定位和寻找疾病致病基因方面有了很大进展,本文在SNPs医学知识的基础上探讨SNPs在运动人体科学中的应用。以期为竞技体育成绩的提高提供理论支持。从而得出SNPs有助于基因选材、运动损伤治疗、训练方案及营养方案的改进,从而提高运动成绩及大众健身水平的提高。  相似文献   
100.
目的通过调查具不良生活习惯如抽烟、喝酒者胃蛋白酶C基因多态性分布情况,研究生活习惯与胃癌病因之间的关系。方法采用PCR检测具不良生活习惯者中胃蛋白酶原C基因的多态性。结果既抽烟又喝酒者52人中,等位基因1出现频率比对照组高且差异有统计学意义(P<0.05)结论既抽烟又喝酒者是胃癌发病的高危险人群。  相似文献   
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