线粒体DNA多态性与人类运动能力的研究进展

综述了有关线粒体基因组(mtDNA)多态性与运动能力的研究：mtDNA为16569bp的双链闭环分子，含有37个基因，排列紧密，无内含子。其转录、复制受核DNA调控，同时也不同程度地影响核DNA表达；mtDNA的多样性很高的结论被进一步证实，且mtDNA的差异主要分布在群体内的个体间，而群体间的差异较小；目前研究认为，mtDNA多态性可能造成群体中有氧代谢能力的个体差异，是决定有氧能力和训练敏感性的可能分子机制之一。展示了中国运动员和汉人mtDNA HVR Ⅰ多态性，及其与运动能力关联性研究的结果，并对比分析了限制性酶切、直接测序、活细胞培养等方法对mtDNA多态性与运动能力的研究结果，发现众多研究结果还存在不少争议，仍需进一步深入研究。mtDNA作为良好的遗传标记，对其单核苷酸多态性(SNP)的分析及其与运动能力表型的关联研究和分子遗传学探讨具有重要意义和研究前景。     

草地藏系绵羊mtDNA D-Loop区多态性分析

研究了草地藏系绵羊mtDNA D-Loop区多态性,获得了草地藏系绵羊mtDNA D-Loop区全长序列信息,这一区段的DNA长度为1179～1183 bp(A型)和1106 bp(B型),其长度存在明显差异,这主要是由于该区内串联重复序列数目的不同造成的,因此草地藏系绵羊可分为A型(3个重复)和B型(4个重复)两种类型。     

The polygenic profile of Russian football players

Abstract

Research concerned with predictors of talent in football has highlighted a number of potentially important and partially inherited measures such as body size, anaerobic power, aerobic capacity, agility, psychological profile, game intelligence and susceptibility to injuries. Genotyping for performance-associated DNA polymorphisms at an early age could be useful in predicting later success in football. The aim of the study was to investigate individually and in combination the association of common gene polymorphisms with football player’s status. A total of 246 Russian football players and 872 controls were genotyped for 8 gene polymorphisms, which were previously reported to be associated with athlete status. Four alleles (ACE D, ACTN3 Arg577, PPARA rs4253778 C and UCP2 55Val) were first identified, showing discrete associations with football player’s status. Next, we determined the total genotype score (TGS, from the accumulated combination of the 4 polymorphisms, with a maximum value of 100 for the theoretically optimal polygenic score) in athletes and controls. The mean TGS was significantly higher in football players (52.0 (17.6) vs. 41.3 (15.5); P < 0.0001) than in controls. These data suggest that the likelihood of becoming a football player depends on the carriage of a high number of “favourable” gene variants.     

上海汉族优秀耐力运动员ACE基因I/D多态性与最大有氧能力(O_2max)的关联研究

采用PCR和breath by breath方法,对上海汉族55名优秀游泳运动员、60名优秀赛艇运动员和85名汉族普通人的ACE基因I/D多态性和V。O2max进行检测。结果显示1)上海汉族优秀游泳和赛艇运动员ACE基因的基因型和等位基因频率与上海和成都地区汉族普通人组无明显差异(P>0.05);与Caucasian人群相比,均存在非常显著性差异(P<0.0001),表现出明显的民族和地区的差异性;游泳和赛艇项目健将和一级运动员间的基因型和等位基因频率分布,存在明显差异(P<0.05);游泳运动员水平越高,II型所占比例就越高,赛艇运动员中水平越高,ID型的比例越大;2)不同基因型的游泳运动员的O2max、O2max/kg、CO2max、Emax、O2-plusemax、Wmax和Tmax等指标,均表现为II型>DD型>ID型,II型明显优于ID型(P<0.05~0.01),而赛艇运动员则表现为ID型>II型>DD型,ID明显优于DD型(P<0.05~0.01)。结果提示,游泳项目中具有II基因型或I等位基因的运动员,赛艇项目中具有ID基因型或I等位基因的运动员,可能属于运动训练敏感的高反应群体,经过多年系统科学的训练,具有成为优秀运动员的可能。ACE基因I/D多态性可作为运动训练和选材中高敏感的、非常重要的遗传标记之一。     

GSTP1基因Ile105Val多态性与最大运动状态下的心肺表现

人体谷胱苷肽S-转移酶在肺和心血管系统免疫反应方面扮演一定角色,不少研究已经显示谷胱苷肽S-转移酶P1(glutathione S-transferaseP1,GSTP1)基因Ile105Val多态性可能与肺疾病的发生发展相关联,而该多态是否影响正常人体心肺功能少见报道。选取198名健康汉族成年男性,首次对GSTPl基...     

HiHiLo对心功能的影响与ACE基因I/D多态性的关联研究

目的:探讨低氧训练对心脏结构与功能的影响及其与中国人群ACE基因I/D多态性之间的关联性.方法:76名中国北方平原地区汉族男子进行4周高住高练低训( HiHiLo),方案为每日在低氧环境(O2浓度为14.5％～14.8％)中休息10h,每周进行3次75％VO2 max低氧训练(O2浓度为15.4％),其余时间在常氧下训练;HiHiLo前后测定左心室结构与功能相关指标;PCR分析受试者的ACE基因I/D多态性.结果:HiHiLo后心脏结构指标LVM、LVMI、IVSD和PWD都显著性增加(P＜0.05);训练后安静时、各种负荷时和恢复时EDV、EF、SV、SVI和E/A显著性增加(P＜0.05),HR、CO、COI、Vmn和Vp显著性减小(P＜0.05).HiHiLo前各指标在ACE各基因型间无显著性差异(P＞0.05);除50 W和150W时HR外,其余心脏结构和功能指标训练后变化在各组间均未见显著性差异(P＞0.05).结论:HiHiLo能使左心室结构和功能呈现良好的顺应性变化;ACE基因型与个体心功能对HiHiLo的敏感性无关.     

奶牛LF基因5’-UTR多态性与子宫感染和生殖参数的相关性分析

乳铁蛋白（Lactoferrin,LF）是牛子宫分泌物中一种重要的抗菌化合物,LF等位基因多态性会影响子宫感染的敏感性和耐药性。本次试验以89头荷斯坦奶牛为研究对象,通过AS-PCR方法和基因测序技术研究了牛LF基因5’非编码区的SNPs。研究结果表明,感染疾病组和未感染疾病组的LF基因5’-UTR扩增片段均发生G→C碱基突变。统计分析表明LF基因5’UTR的SNP与子宫感染没有显著相关性（P〉0.05）,CC基因型个体和CG基因型个体在输精次数和空怀天数水平上显著低于GG基因型个体（P〈0.05）,此外,产后第一次配种时间在3种基因型间没有显著差异（P〉0.05）。     

Deregulation of microRNA expression in thyroid tumors简

MicroRNAs (miRNAs or miRs) are endogenous non-coding RNAs that negatively regulate gene expression by binding to the 3′ non-coding regions of target mRNAs, resulting in their cleavage or blocking their translation. miRNAs may have an impact on cell differentiation, proliferation, and survival, and their deregulation can be inclined to diseases and cancers, including thyroid tumors. The purpose of this review is to summarize the existing findings of deregulated miRNAs in different types of thyroid tumors and to exhibit their potential target genes, especially to demonstrate those involved in tumor invasion and metastasis. In addition, new findings of circulating miRNA expression profiles, single nucleotide polymorphism (SNP) in thyroid tumors, and the correlation of somatic mutations with deregulated miRNA expression in thyroid tumors were all included in this review.     

Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population简

Objective

A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are located in AUTS1 and AUTS5, which have been identified as autism susceptibility loci in several genome-wide screens. The present study aimed to investigate whether ZNF533, DOCK4, and IMMP2L genes are also associated with autism in a northeastern Chinese Han population.

Methods

We performed a similar association study using families with three individuals (one autistic child and two unaffected parents). A family-based transmission disequilibrium test (TDT) was used to analyze the results.

Results

There were significant associations between autism and the two SNPs of ZNF533 gene (rs11885327: χ ²=4.5200, P=0.0335; rs1964081: χ ²=4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262: χ ²=5.3430, P=0.0208).

Conclusions

Our data suggest that ZNF533 and DOCK4 genes are linked to a predisposition to autism in the northeastern Chinese Han population.     

人类体质及运动能力的遗传学基础——研究回顾及展望

人类体质及运动能力的遗传学研究已有相对较长的历史 ,其研究方法从经典遗传流行病学发展到分子生物学 ,研究方法学上的革命不断更新人类对体质及运动能力遗传本质的理解。迄今为止 ,我们仅知道基因对人类最大有氧能力具有一定程度的调控作用 ,但其调节机制仍未阐明。