滩羊体大品系遗传标记的研究

采用RAPD(Rondom Amplified Polymorphic DNA)技术,利用混合基因池(DNA pool)法,对滩羊体大品系、普通品系进行了DNA多态性分析,从100种具有10个碱基的随机引物中,筛选出84种引物在滩羊群体基因组中共扩增出358条带,其中22种引物的扩增产物表现为多态(占22％),且扩增出32条有差异的条带,占总带数的8.94％;62种引物的扩增产物表现为单态(占62％)。滩羊体大品系的特异性条带有5条,而普通品系的特异性条带有7条,这些特异标记可以用来鉴定滩羊的两个品系;滩羊体大品系与普通品系间的遗传距离为0.136±0.087,表明两品系之间的亲缘关系很近。     

Some trends in medical populations genetics

Summary Five topics concerning medical population genetics have been selected for discussion: in the field of population cytogenetics, the frequency of chromosomal aberrations and the roles of mutation and selection in the maintenance of balanced rearrangements are studied; the long term genetic effects of treatment and prevention of genetic diseases are reviewed; the relationships between malaria and the sickle-cell trait are discussed; some recent works concerning human DNA polymorphisms in the field of population, genetics are presented, and finally, some methods of genetic epidemiology are described.     

解析心钠素基因多态性与运动能力的研究进程

从心钠素分子结构及生物学特性入手,归纳了人类从发现心钠素到心钠素基因的过程,并应用网络检索了国内外核心期刊有关心钠素基因多态性在医学和运动医学领域研究的相关文献.本文从心钠素与运动关系方面进行了综述,希望可以进一步推动心钠素基因多态位点与运动能力,尤其是耐力训练关联性的研究.     

Tilling技术及其在作物遗传育种学中的应用

近10年来,Tilling技术作为一种诱导和鉴定遗传变异的反向遗传学方法逐渐建立起来,并在模式生物拟南芥、玉米、果蝇上得到成功的应用.近来,Tilling技术已进入遗传育种研究领域,并且在功能基因和作物主要性状的研究中显示了巨大的潜力.     

水稻亚种间基因组水平微卫星多态性分析

从公布的水稻两个亚种（籼稻9311和粳稻Nipponbare）基因组草图序列中,搜寻了所有的完整微卫星位点,发现单碱基重复中A/T重复占大多数,二碱基重复中AT/TA、GA/TC、AG/CT重复居多,三碱基中GGC/GCC、GCG/CGC、CCG/CGG重复较多。通过相互比较,不同基序和基因区域的微卫星多态性有较大差异：内含子和基因间区中微卫星的多态性较高（分别约为45%和40%）,外显子中的微卫星多为三碱基重复,而且多态性较低（约为25%）;两个亚种具多态性的微卫星间距平均约为12.7 kb和16.4 kb。     

甜瓜作图亲本随机引物扩增片段长度的多态性

以黄旦子和H414723作为作图亲本,从1200条RAPD随机引物中筛选出148条有多态性的引物用以构建甜瓜分子图谱．共扩增出232个有差异的位点,平均每条能扩增出1．56个多态性位点．     

Aspects of gene polymorphisms in cerebral infarction: inflammatory cytokines

During the last decade, a growing corpus of evidence has indicated an important role of inflammatory cytokines in the pathogenesis of cerebral lesion following stroke. Recent data suggest that genetics may in turn contribute to modulating the effects of inflammatory cytokines on cerebral infarction (CI). This paper reviews the physiologic characteristics of major inflammatory cytokines and recent research developments related to cell biology and pathobiology in CI. In particular, this review focuses on the genetic aspects of inflammatory cytokines and their implications in CI.Received 22 June 2004; received after revision 11 November 2004; accepted 16 December 2004     

利用位点信息分析遗传疾病与基因的关联性

人体的许多遗传疾病都与其基因包含的多个位点(SNPs)相关联。因此定位与遗传疾病相关联基因在染色体中的位置,能帮助研究人员了解疾病的遗传机理,预防某些遗传病的发生。利用全基因组关联分析方法,对两类样本(患病,未患病)各个位点上的碱基进行卡方检验,找出某种遗传病最有可能的致病位点,定位其所在的致病基因。利用连锁不平衡系数,得出最可能相关的致病基因,并通过聚类算法检验结论的合理性。     

Integration of rolling circle amplification and cationic conjugated polymer for the homogeneous detection of single nucleotide polymorphisms

A novel, homogeneous and sensitive assay for the detection of single nucleotide polymorphisms (SNPs) by integration of rolling circle amplification (RCA) and cationic conjugated polymer (CCP) has been developed and tested. Mutant DNA serves as the template for specifically circularizing a padlock probe (PLP) with a sequence that is complementary to the mutant DNA. Afterwards, the mutant DNA directly acts as the primer to initiate the RCA reaction in the presence of phi29 DNA polymerase that generates a long, tandem single-strand DNA product. During the RCA reaction, fluorescein-labeled dUTPs are incorporated into the RCA products. When the CCP is introduced, efficient FRET from CCP to fluorescein occurs as a result of the strong electrostatic interactions between the CCP and the DNA produced by RCA. The wild-type DNA contains a single base mismatch with PLP with the result that the PLP is not circularized, RCA is not triggered and inefficient FRET results. By measuring the change of the emission intensities of CCP and fluorescein, it was possible to detect the SNP in a homogeneous manner. The method is sensitive and specific enough to detect 0.1 pmol/L mutant DNA and to determine a mutant allele frequency as low as 2.0%.