微卫星技术与应用探讨

微卫星是以几个碱基(一般为1~6个)为重复单位组成的简单的串联重复序列,具有丰度高、多态性高、共显性标记、选择中性及可自动检测等优点,在保护遗传学和种群遗传学研究中有广泛的应用.     

Controversial opinion: evaluation of <Emphasis Type="Italic">EGR1</Emphasis> and <Emphasis Type="Italic">LAMA2</Emphasis> loci for high myopia in Chinese populations

Functional studies have suggested the important role of early growth response 1 (EGR1) and Laminin α2-chain (LAMA2) in human eye development. Genetic studies have reported a significant association of the single nucleotide polymorphism (SNP) in the LAMA2 gene with myopia. This study aimed to evaluate the association of the tagging SNPs (tSNPs) in the EGR1 and LAMA2 genes with high myopia in two independent Han Chinese populations. Four tSNPs (rs11743810 in the EGR1 gene; rs2571575, rs9321170, and rs1889891 in the LAMA2 gene) were selected, according to the HapMap database (http://hapmap.ncbi.nlm.nih.gov), and were genotyped using the ligase detection reaction (LDR) approach for 167 Han Chinese nuclear families with extremely highly myopic offspring (<?10.0 diopters) and an independent group with 485 extremely highly myopic cases (<?10.0 diopters) and 499 controls. Direct sequencing was used to confirm the LDR results in twenty randomly selected subjects. Family-based association analysis was performed using the family-based association test (FBAT) software package (Version 1.5.5). Population-based association analysis was performed using the Chi-square test. The association analysis power was estimated using online software (http://design.cs.ucla.edu). The FBAT demonstrated that all four tSNPs tested did not show association with high myopia (P>0.05). Haplotype analysis of tSNPs in the LAMA2 genes also did not show a significant association (P>0.05). Meanwhile, population-based association analysis also showed no significant association results with high myopia (P>0.05). On the basis of our family- and population-based analyses for the Han Chinese population, we did not find positive association signals of the four SNPs in the LAMA2 and EGR1 genes with high myopia.     

“Regressed experts” as a new state in teachers’ professional development: lessons from Computer Science teachers’ adjustments to substantial changes in the curriculum

Due to a program reform in Israel, experienced CS high-school teachers faced the need to master and teach a new programming paradigm. This situation served as an opportunity to explore the relationship between teachers' content knowledge (CK) and their pedagogical content knowledge (PCK). This article focuses on three case studies, with emphasis on one of them. Using observations and interviews, we examine how the teachers, we observed taught and what development of their teaching occurred as a result of their teaching experience, if at all. Our findings suggest that this situation creates a new hybrid state of teachers, which we term “regressed experts.” These teachers incorporate in their professional practice some elements typical of novices and some typical of experts. We also found that these teachers' experience, although established when teaching a different CK, serve as a leverage to improve their knowledge and understanding of aspects of the new content.     

促红细胞生成素受体基因与运动能力

人类体质及运动能力与其他性状一样,属于多基因调控。从决定人体有氧运动能力的生理学基础上看,血液中红细胞、血红蛋白的携氧、运氧能力起着非常重要的作用。而人体中红细胞的产生是受基因调控的,主要受促红细胞生成素(EPO)基因和促红细胞生成素受体(EPOR)基因作用。只有促红细胞生成素(EPO)和促红细胞生成素受体(EPOR)结合,引发一系列信号传导,最终启动相关基因转录,生成网织红细胞和红细胞。因此,研究促红细胞生成素受体(EPOR)基因的多态性与红细胞、血红蛋白的关系,对于评定运动员的有氧能力及作为选取耐力项目运动员的指标是非常有意义的。     

血管紧张素转化酶基因I/D多态性与高血压脑梗塞发病的相关性

采用PCR方法分别检测82例高血压合并脑梗塞患者(BI)、67例单纯高血压患者(EH)和95例健康对照者(C)的血管紧张素转化酶(ACE)基因I/D多态性类型,并分析ACE基因I/D多态性分布与高血压合并脑梗塞发病的相关性.结果显示,BI组ACE基因的D/D基因型频率和D等位基因频率(分别为0.341和0.524)显著高于C组(分别为0.200和0.374,P<0.05)和EH组(分别为0.179和0.358,P<0.05),而EH组和C组ACE基因的D/D基因型频率和D等位基因频率无显著性差异.该研究结果表明,ACE基因的D/D基因型可能是高血压合并脑梗塞发病的独立危险因素.     

C++中虚函数的应用

多态性是面向对象程序设计的重要特性之一, 虚函数是实现多态的基础.文章对C 中虚函数的定义进行分析,并通过程序举例来探讨虚函数的作用.     

mtDNA D-loop 多态性与澳大利亚自行车运动员有氧运动能力关系初探

研究目的:探讨了mtDNA D-loop多态性与澳大利亚自行车运动员的VO2max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VO2max有显著性差异,但mtDNA D-loop的多态性在两组的分布频率没有显著性差异.     

华东地区汉族人群D8S1477和D8S592基因座的遗传多态性研究

建立了D8S1477和D8S592基因座的分型方法,获得了华东汉族群体D8S1477和D8S592基因座的遗传学数据,并对华东汉族群体数据与华西及印度四个群体的群体遗传学数据做了构成比较．结果表明：D8S1477基因座等位基因频率分布较好,对我国华东地区汉族人群具有较高的非父排除率和个人识别能力,D8S592基因座属非高度多态性STR基因座,不适于法医学应用．     

Study of apolipoprotein E genetic polymorphism in patients with atherosclerotic cerebral infarction

INTRODUCTIONAtheroscleroticCerebralInfarction (ACI)isoneofthemostcommoncerebralvasculardis easse.Itspathogenesishasnotyetbeencom pletelyexpounded ,althoughmoreandmorestudiesshowingthatgeneticfactorsmayplayanimportantrole ,especiallygeneticmutations.Lo cat…     

Association of p53 codon 72 polymorphism with liver metastases of colorectal cancers positive for p53 overexpression

Objective: To evaluate the association between p53 codon 72 polymorphism (R72P) and the risk of colorectal liver metastases. Methods: The p53 R72P genotype was identified by polymerase chain reaction-restriction fi'agment length poly-morphism (PCR-RFLP) method in 78 consecutive colorectal cancer patients with liver metastases and 214 age- and sex-matched cases with nonmetastatic colorectai cancer. Results: The R allele of the p53 R72P polymorphism was more frequently found in metastatic cases than in nonmetastatic cases (P=0.075). Carriers of the 72R allele had a 2.25-fold (95% CI (confidence inter-val)=1.05～4.83) increased risk of liver metastases. On the stratification analysis, 72R-carrying genotype conferred a 3.46-fold (95% CI=1.02～11.72) and a 1.05-fold (95% CI=0.36～3.08) increased risk of liver metastases for p53 overexpression-positive and negative colorectal cancers, respectively. Conclusion: These results demonstrate for the first time that the 72R allele of the p53 polymorphism has an increased risk for liver metastases in colorectal cancers positive for p53 overexpression.