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1.
We studied the allelic frequency distributions and statistical forensic parameters of 21 new short tandem repeat (STR) loci and the amelogenin locus, which are not included in the combined DNA index system (CODIS), in a Russian ethnic minority group from the Inner Mongolia Autonomous Region, China. A total of 114 bloodstain samples from unrelated individuals were extracted and co-amplified with four fluorescence-labeled primers in a multiplex polymerase chain reaction (PCR) system. Using capillary electrophoresis, the PCR products of the 21 STR loci were separated and genotyped. A total of 161 alleles were observed in the Russian ethnic minority group, and corresponding allelic frequencies ranged from 0.0044 to 0.5965. The 21 non-CODIS STR loci of the Russian ethnic minority group were characterized by high genetic diversity and therefore may be useful for elucidating the population’s genetic background, for individual identification, and for paternity testing in forensic practice.  相似文献   
2.
目的:探讨不同ApoE基因型人群对适宜健骨运动处方防治原发性骨质疏松的敏感性,为制定基于基因多态性的个性化运动处方提供理论依据。方法:74名原发性骨质疏松患者按ApoE基因型随机分为ε2组、ε3组和ε4组,进行为期3个月的有氧及抗阻运动训练,双能x线骨密度吸收仪(DxA)测定运动前后骨矿含量、腰椎(L2-4及髋部骨密度(BMD)的变化。结果:ε4组BMC运动前后的变化率高于ε2组0P〈0.05);L2-4BMD运动前后无显著变化;ε4组髋部BMD运动前后的变化率显著高于ε2组(P〈0.05)。结论:运动疗法防治原发性骨质疏松的效果受ApoE基因多态性的影响,其中ε4型人群通过运动疗法防治骨质疏松的效果较好。  相似文献   
3.
由于单核苷酸多态性(SNPs)在寻找致病基因,了解遗传多样性、环境与基因的相互作用方面有重大价值,SNPs研究已越来越多地引起了学术界和产业界的兴趣.CYP1A1编码的酶在烟草的主要几类前致癌物(如PAHs和芳香胺类物质)的代谢活化中有重要作用,其多态性与个体对环境相关的癌症的易感性密切相关.本研究采用PCR-RFLP技术在上海人群中,对CYP1Al的两个SNPs:CYP1A1 m1和m2进行了基因分型.结合其它已发表的数据,我们的研究表明,在中国人群的不同群体中,m1等位基因的频率分布比较一致,而m2等位基因的频率分布则存在着显著的不同.  相似文献   
4.
摘要:目的:探讨葡萄糖转运蛋白1(Glucose Transporter 1, GLUT1)基因rs841853 G/T多态位点作为评估和筛选长跑运动能力遗传标记的可行性。方法:于2009-2010年选取78名中国女子专业长跑运动员,采用基质辅助激光解吸附电离飞行时间质谱检测技术解析GLUT1基因rs841853位点基因型,采用递增负荷跑台运动试验获取运动员的生理机能指标,并检索追溯运动员截止到2017年各主项的个人最好成绩。结果:中国女子专业长跑运动员rs841853 G/T多态位点的基因型GG、GT和TT的频率分布为65.4%、29.5%和5.1%,等位基因G和T的频率分布为80.1%和19.9%,符合哈温平衡定律。基因型频率和等位基因频率与北京汉族人群存在显著差异(P<0.05,P<0.05)。GT+TT基因型携带者的VO2AT/VO2max、VE和5000米项目个人最好成绩显著高于GG基因型携带者(P<0.05,P<0.05,P<0.05)。结论:GLUT1基因rs841853位点的T等位基因可能是评估优秀长跑运动能力的基因标记,有待于通过扩大样本量和功能学研究给予进一步验证。  相似文献   
5.
Objective: To investigate the relationships between endothelial nitric oxide synthases (eNOS) G894T and 27 bp-variable number tandem repeat (VNTR) gene polymorphisms and osteoporosis in the postmenopausal women of Chinese Han nationality. Methods: In the present study, 281 postmenopausal women from Xi'an urban area in West China were recruited, and divided into osteoporosis, osteopenia, and normal groups according to the diagnostic criteria of osteoporosis proposed by World Health Organization (WHO). The bone mineral density (BMD) values of lumbar vertebrae and left hips were determined by QDR-2000 dual energy X-ray absorptiometry. Blood samples were tested for plasma biochemical indicators including testosterone, estradiol, calcitonin, osteocalcin, and procollagen type I amino-terminal propeptide by enzyme-linked immunosorbent assay (ELISA), tartrate-resistant acid phosphatase by spectrophotometric method, and the content of nitric oxide by Griess method. Genome DNA was extracted from whole blood, and G894T polymorphism of eNOS gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and 27 bp-VNTR polymorphism of eNOS gene was genotyped by PCR method. Then the relationships between genotypes and biochemical indicators, genotypes and osteoporosis, and haplotypes and osteoporosis were analyzed. Results: The average BMD values of the femoral neck, ward's triangle and lumbar vertebrae 1~4 (L1~L4) in the subjects with T/T genotype in eNOS G894T locus were significantly higher than those in the subjects with G/T and G/G genotypes (P<0.05). The average BMD of the femoral neck in the subjects with a/a genotype of eNOS 27 bp-VNTR locus was evidently higher than that in the subjects with b/b genotype (P<0.05). The plasma testosterone and osteocalcin concentrations in the subjects of eNOS G894T G/T genotype were evidently higher than those in the subjects of other genotypes (P<0.05); the plasma estradiol concentration in the subjects of eNOS 27 bp-VNTR a/a genotype was obviously higher than that in the subjects of b/b genotype (P<0.01). eNOS G/G homozygous frequencies in osteoporosis women, osteopenia women, and normal women were 85.37%, 76.38%, and 83.87%, respectively (P>0.05). 0% osteoporosis woman, 0.79% osteopenia women, and 3.23% normal women were eNOS a/a homozygous (P<0.05). The frequencies of eNOS 27 bp-VNTR a allele were 5.33% in the osteoporosis group, 10.24% in the osteopenia group, and 16.13% in the normal group (P<0.05, odds ratio (OR)=0.29, 95% confidence interval (CI)=0.11~0.77), suggesting that a/a genotype and a allele might have protective effects on osteoporosis. The haplotype analysis showed that G-b was 87.7% (214/244) in the osteoporosis group (P<0.05, OR=2AS, 95% CI=1.18~5.18). G-a was 5.3% (13/244) in the osteoporosis group (P<0.05, OR=0.29, 95% CI=0.11~0.77). G-b was a risk factor for osteoporosis, and G-a a protective factor. Conclusion: eNOS G894T G/T genotype influenced the plasma testosterone and osteocalcin concentrations, and T/T genotype influenced BMD. eNOS 27 bp-VNTR a/a genotype increased plasma estradiol concentration to have a protective effect on osteoporosis.  相似文献   
6.
脂蛋白脂酶(LPL)基因多态性与血脂及冠心病关系密切,因此目前对脂蛋白脂酶基因多念性研究相对较多,但主要集中在HindⅢ酶切位点。脂蛋白脂酶基因HindⅢ酶切位点多态件可产生3种基因型H^+H^+、H^+H^-、H^-H^-,不同基因型与血脂成分及冠心病关系密切程度各异,另外,运动对不同基因型个体血脂影响不同。就脂蛋白脂酶HindⅢ酶切位点多态性与血脂和冠心病及运动关系作一综述。  相似文献   
7.
Retinoic acid level in the retina/choroid is altered in induced myopia models. All-trans-retinol dehydrogenase (RDH8) is an important enzyme of retinoic acid metabolism. This study aimed to investigate the association of the RDH8 gene with high myopia. Three single nucleotide polymorphisms (SNPs) [RDH851 (rs2233789), RDH8E5a (rs1644731), and RDH855b (rs3760753)] were selected, based on the linkage disequilibrium pattern of RDH8 from a previous study, and genotyped for 160 Han Chinese nuclear families with highly myopic (−10 diopters or worse) offspring as well as in an independent group with 166 highly myopic cases (−10 diopters or worse) and 211 controls. Family-based association analysis was performed using the family-based association test (FBAT) package, and genotype relative risk (GRR) was calculated using the GenAssoc program. Population-based association analysis was performed using Chi-square test. These SNPs were in linkage equilibrium with each other. SNPs RDH851 (rs2233789) and RDH8E5a (rs1644731) both did not show association with high myopia. SNP RDH855b (rs3760753) demonstrated significant association (P=0.0269) with a GRR of 0.543 (95% confidence interval=0.304–0.968, P=0.038). The association became statistically insignificant, however, after multiple comparison correction. Haplotype analysis did not show a significant association either. Population-based association analysis also showed no significant association (P>0.05). Our family- and population-based data both suggest that the RDH8 gene is unlikely to be associated with high myopia in Chinese.  相似文献   
8.
目的:探讨蛋白z依赖的蛋白酶抑制物(ZPI)基因外显子-3(exon-3)多态性与妊娠高血压疾病子痫前期的相关性。方法:选择健康孕妇30例、妊娠高血压疾病子痫前期36例,用ELISA竞争法测定其血浆ZPI水平。用直接DNA测序法对ZPI基因exon-3测序。结果:ZPI含量健康妊娠组为(144.32±75.45)pg/mL,妊娠高血压疾病子痫前期组为(137.61±42.95)pg/mL,两组之间无显著性差异(F=0.131,P=0.719)。ZPI基因外显子-3测序结果,发现在exon-3137A〉G、181A〉G、481A〉T存在基因多态性,但这三种基因型频率和等位基因频率分布,两组之间均无统计学差异(均P〉0.05)。结论:ZPI基因exon-3137A〉G、181A〉G、481A〉T存在基因多态性,但与妊娠高血压疾病子痫前期关系不大。  相似文献   
9.
Abstract

Environmental and genetic factors influence muscle function, resulting in large variations in phenotype between individuals. Multiple genetic variants (polygenic in nature) are thought to influence exercise-related phenotypes, yet how the relevant polymorphisms combine to influence muscular strength in individuals and populations is unclear. In this analysis, 22 genetic polymorphisms were identified in the literature that have been associated with muscular strength and power phenotypes. Using typical genotype frequencies, the probability of any given individual possessing an “optimal” polygenic profile was calculated as 0.0003% for the world population. Future identification of additional polymorphisms associated with muscular strength phenotypes would most likely reduce that probability even further. To examine the genetic potential for muscular strength within a human population, a “total genotype score” was generated for each individual within a hypothetical population of one million. The population expressed high similarity in polygenic profile with no individual differing by more than seven genotypes from a typical profile. Therefore, skeletal muscle strength potential within humans appears to be limited by polygenic profile similarity. Future research should aim to replicate more genotype–phenotype associations for muscular strength, because only five common genetic polymorphisms identified to date have positive replicated findings.  相似文献   
10.
气质维度及其相应运动员选材中的基因筛选   总被引:3,自引:0,他引:3  
人类气质没有好坏之分,可是气质中诸如猎奇行为和伤害逃避行为维度与多巴胺受体4(D4DR)和血清素转运关联启动区(5-HTTLPR)基因的功能性多态表现有密切相关联。目前,有关气质不同维度模型与基因多肽性关联的报道很多,也有对不少问题缺乏合理解释而受到责难的,基于此,提出寻找气质和个性的候选基因为运动员选材提供依据的假设。  相似文献   
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