IGF-1基因多态性与骨骼肌性状的关系

运动员选材是竞技体育中取胜的关键之一.在后基因组时代,基因选材将成为运动选材的重要手段,而基因选材的前提是必须找到有效的基因标记.胰岛素样生长因子-1(IGF-1)是一种与肌肉、骨骼等组织的生长关系十分密切的小分子多肽,其基因上很可能存在运动能力分子标记.因此,以该基因为目标区域,进行了查找基因标记的尝试.用PCR-RFLP法检测了基因5'调控区单核苷酸多态(SNPs)情况,并用广义线性模型统计分析了多态性与肌肉性状的关系.结果显示:IGF-1基因5'调控区存在一个C-T转换突变,形成三种基因型,分别标记为:"-/-"、"-/ "、" / ".基因型与骨骼肌生长总量和肌纤维直径有着密切的关系,"-/-"基因型个体的胸部和腿部肌肉总量最高,与" / '基因型个体相比差异显著,P值分另q为0.029和0.038,而且"-/-"基因型个体的肌纤维平均直径最大,与" /-"基因型比差异显著(P＜0.05).     

蓖麻GPAT基因SNPs及与油脂含量的关联分析

GPAT基因对蓖麻储存油脂（triacylglycerols,TAG）的合成调控具有重要作用。为了从分子进化角度研究蓖麻GPAT的多态性,参考GenBank中编码蓖麻GPAT的基因组序列设计一对特异性引物对来自32个不同地区种质的GPAT进行测序,获得32个长约741bp的基因组序列。多态分析表明：在741bp的区间内共发现1个SNP,频率为1/741bp,多样性指数Pi为0.00069。结果表明GPAT基因与种质油含量和种子大小的关系均无明显相关性。该研究分析了GPAT基因的遗传多样性,遗传变异与油脂数量和种子大小性状的相关性。     

ALAS2基因复合重复多态性与心脏功能表型的关联性研究——以中国北方汉族男子为例

目的:探讨中国北方汉族男性δ-氨基γ-酮戊酸合成酶2(ALAS2)基因复合重复多态性与心脏功能表型的初始值与耐力训练效果的关联性。方法:选取102名中国北方汉族新兵健康受试者,进行18周的5 000 m跑训练。测定训练前后安静、次最大负荷下(50 w、100 w、150 w)及恢复期的心脏结构与功能指标。使用GeneScan和测序方法分析该基因多态性的分布特征,并进行该多态与上述生理指标等关联性分析。结果:1)按照分割点法划分基因型及分组分析,发现按166 bp长度划分时,≤166 bp基因型的左心室结构指标(EDD、LVM)及不同负荷下的每搏量和每搏量指数(b-SV、50W-SV、100W-SV、150W-SV、b-SVI)、心动周期等初始值均显著性高于>166 bp基因型(p<0.05);2)≤166 bp基因型在次最大负荷(50 W)下的心输出量及心指数下降幅度高于>166bp基因型,但无统计学差异(p<0.1)。结论:ALAS2基因复合重复多态与中国北方汉族男性心脏功能的初始水平存在关联,与耐力训练效果无关联。     

ACE基因多态性与耐力运动的研究进展

目前普遍认为ACE(血管紧张素转换酶)的水平和心血管的形态、功能密切相关。ACE基因的多态性是人耐力素质优劣的决定性因素之一。本文尝试分析这种现象下的原因,认为ACE基因多态性的检测可作为运动员选材及选拔的一种手段。     

Prevalence of +405G>C,−1154G>A Vascular Endothelial Growth Factor Polymorphism in Breast Cancer

Vascular endothelial growth factor (VEGF) plays an important role in the development of Breast Cancer. The aim of this study was to investigate the association of polymorphisms in the VEGF gene on prognosis of Breast Cancer patients. This study comprised 200 patients with histologically confirmed cases of Breast cancer and 200 controls. Genotyping of the VEGF gene polymorphisms at +405G>C,−1154G>A, were performed by PCR-RFLP analysis. Preoperative plasma VEGF levels were determined by ELISA. Amongst both cases and controls, the genotypic distribution of the individual SNPs were all in Hardy–Weinberg equilibrium. Mean VEGF level was significantly elevated in cases compared to controls (t = 8.248; P < 0.001). No significant association was found between +405G>C,−1154G>A VEGF polymorphism and Breast Cancer. Logistic regression analysis revealed that 405GG & 1154GG were associated with higher levels of VEGF.     

A Study on the Level of T<Subscript>3</Subscript>, T<Subscript>4</Subscript>, TSH and the Association of A/G Polymorphism with CTLA-4 Gene in Graves’ Hyperthyroidism among South Indian Population

Graves’ disease (GD) is an organ-specific heterogenous autoimmune disorder associated with T-lymphocyte abnormality affecting the thyroid, eyes and skin. GD is a multifactorial disease that develops as a result of complex interaction between genetic susceptibility genes and environmental factors. It has been suggested that the Cytotoxic T lymphocytes associated molecule-4 (CTLA-4) is a genetic susceptibility candidate for GD. The present study was focused on A/G polymorphism at position 49 in exon-1 of the CTLA-4 gene in 80 GD patients (GP) and 80 sex and age matched healthy individuals among South Indian (Madurai) population. Serum concentrations of thyroid hormone (T₄, T₃ and TSH) were determined by using automated analyzer. The genomic DNA was isolated from the patient and control groups and genotyping was performed using the polymerase chain reaction followed by restriction enzyme analysis using Bbv1. Significant difference (P < 0.001) was observed in the level of T₃, T₄ and TSH in GD patients and healthy individuals. The results revealed the CTLA-4 gene G/G genotype to be 32 (40%) in patients and 26 (32.50%) in healthy individuals, A/G genotype to be 37 (46.25%) in patients and 25 (31.25%) in healthy individuals and A/A genotype to be 11 (13.75%) in patients and 29 (36.25%) in healthy individuals. The calculated odds ratio (OR) in individuals with mutant genotype (GG/AG) reveal 3.6 fold risk for GD (95% confidence interval = 1.6–7.8). The mutant “G” allele frequency was observed to be 0.63 in GD patients and 0.48 in healthy individuals. Thus the present study demonstrates an association between the CTLA-4 gene polymorphism and Graves’ disease.     

Polymorphisms of genes involved in polycyclic aromatic hydrocarbons’ biotransformation and atherosclerosis

Polycyclic aromatic hydrocarbons (PAHs) are among the most prevalent environmental pollutants and result from the incomplete combustion of hydrocarbons (coal and gasoline, fossil fuel combustion, byproducts of industrial processing, natural emission, cigarette smoking, etc.). The first phase of xenobiotic biotransformation in the PAH metabolism includes activities of cytochrome P450 from the CYP1 family and microsomal epoxide hydrolase. The products of this biotransformation are reactive oxygen species that are transformed in the second phase through the formation of conjugates with glutathione, glucuronate or sulphates. PAH exposure may lead to PAH-DNA adduct formation or induce an inflammatory atherosclerotic plaque phenotype. Several genetic polymorphisms of genes encoded for enzymes involved in PAH biotransformation have been proven to lead to the development of diseases. Enzyme CYP P450 1A1, which is encoded by the CYP1A1 gene, is vital in the monooxygenation of lipofilic substrates, while GSTM1 and GSTT1 are the most abundant isophorms that conjugate and neutralize oxygen products. Some single nucleotide polymorphisms of the CYP1A1 gene as well as the deletion polymorphisms of GSTT1 and GSTM1 may alter the final specific cellular inflammatory respond. Occupational exposure or conditions from the living environment can contribute to the production of PAH metabolites with adverse effects on human health. The aim of this study was to obtain data on biotransformation and atherosclerosis, as well as data on the gene polymorphisms involved in biotransformation, in order to better study gene expression and further elucidate the interaction between genes and the environment.     

VEGFR2基因SNP/A+18487T与HiHiLo后定量负荷下SpO_2变化的关联研究

目的:探讨VEGFR2(血管内皮生长因子受体2)基因SNP/A+18487T多态性与HiHiLo后定量负荷下SpO2变化的关联性。方法:选取71名中国北方平原地区汉族男子进行30 d高住高练低训(HiHiLo),方案为每日在低氧房(O2浓度为14.8%~14.3%,海拔约2 800~3000m)居住10 h,每周进行3次75%VO2max强度的低氧训练(O2浓度为15.4%~14.8%,海拔约2 500~2 800 m),运动时间为30 mim/次,其余时间在常氧环境下训练。使用脉搏血氧饱和度测试仪测试HiHiLo前后定量负荷下SpO2。采用PCR-RFLP法分析VEGFR2基因A+18487T单核苷酸多态性。结果:VEGFR2基因A+18487T多态性与低氧训练后定量负荷运动下SpO2变化有关联。其中AA基因型者SpO2升高幅度显著大于其他基因型者。结论:AA基因型者在低氧训练后产生了较好的低氧适应,可以作为预测低氧训练后定量负荷运动下SpO2变化的分子遗传学标记。     

中国北方汉族男子ALAS2基因复合重复多态性与HiHiLo训练后左心室结构功能的关联性研究

目的:探讨δ-氨基γ-酮戊酸合成酶2(ALAS2)基因复合重复多态性与高住高训低练(HiHiLo)训练后左心室结构功能的关联性。方法:选取72名中国北方汉族男性健康受试者进行4周高住高练低训(Hi-HiLo),方案为每日在低氧环境(O2浓度为14.5%~14.8%,相当于海拔3000 m)中休息10 h,每周进行3次低氧下(O2浓度为15.4%,相当于海拔2500 m)75%.VO2max强度蹬功率自行车训练,其余时间在常氧下训练;测定受试者HiHiLo前后不同状态下左心室结构功能等指标。使用GeneScan和测序方法分析该基因多态性的分布特征,并进行该多态与HiHiLo训练敏感性的关联性分析。结果:HiHiLo后,≤166bp组在安静及不同运动负荷下每博输出量的增加幅度(△b-SV、△b-SVI、△100W-SV、△100W-SVI)显著性低于166 bp组(P0.05);≤166 bp组在安静及不同运动负荷下心输出量的下降幅度(△b-CO、△50W-CO、△100W-CO、△150W-CO、△b-COI、△50W-COI、△150W-COI)、射血分数的下降幅度(△100W-EF)、心率的下降幅度(b-△HR、50W-△HR、100W-△HR、150W-△HR)均显著性高于166bp组(P0.05)。结论:ALAS2基因复合重复多态中≤166bp基因型在心脏功能指标中HiHiLo训练敏感性最高,可作为预测HiHiLo训练后左心室功能变化的分子遗传学标记。     

Polymorphism (C677T) in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene: A preliminary study on north Indian men

An elevated level of plasma homocysteine, sulfur containing amino acid generated through demethylation of methionine has been widely accepted as a risk factor for cardiovascular disease (CVD). The increase can result from genetic and/or nutrient related disturbances in the remethylation or transsulfuration pathways for homocysteine metabolism. A common mutation (C677T) in the gene encoding for the enzyme 5, 10-methylenetetrahydrofolate reductase (MTHFR) or deficiency of the B vitamins namely folic acid, B₁₂, B₆ can lead to hyperhomocysteinemia. In the present study, we have investigated the incidence of the (C677T) MTHFR polymorphism in the North Indian males. 141 angiographically proven coronary artery disease (CAD) patients and 55 age and sex matched healthy volunteers were examined for the association between MTHFR gene polymorphism and CAD. The MTHFR genotyping was performed using polymerase chain reaction (PCR) followed by restriction-isotyping with Hinf 1 endonuclease. A trend for higher ‘T’ allele frequency (0.19) was observed in patients than in controls (0.16). However no significant association was found between C677T mutation and CAD severity. The lack of statistical significance could be due to the small sample size studied. Hence a larger study including various ethnic groups is warranted.