遗传学教学中的动画设计

遗传学教学的某些环节中使用动画有助于学生理解遗传学原理、实现教与学的互动、提高教学效果．运用网络多媒体开发工具Flash设计开发了遗传学动画．主要涉及细菌的接合过程、Holliday模型的重组过程、易位杂合体的联会和分裂过程、倒位杂合体的联会和分裂过程、减数分裂过程五个方面．对其开发设计的思想、原则、技术要点、特色和效果作了阐述。     

Integrated massively parallel sequencing of 15 autosomal STRs and Amelogenin using a simplified library preparation approach

Massively parallel sequencing (MPS) technologies, also termed as next‐generation sequencing (NGS), are becoming increasingly popular in study of short tandem repeats (STR). However, current library preparation methods are usually based on ligation or two‐round PCR that requires more steps, making it time‐consuming (about 2 days), laborious and expensive. In this study, a 16‐plex STR typing system was designed with fusion primer strategy based on the Ion Torrent S5 XL platform which could effectively resolve the above challenges for forensic DNA database‐type samples (bloodstains, saliva stains, etc.). The efficiency of this system was tested in 253 Han Chinese participants. The libraries were prepared without DNA isolation and adapter ligation, and the whole process only required approximately 5 h. The proportion of thoroughly genotyped samples in which all the 16 loci were successfully genotyped was 86% (220/256). Of the samples, 99.7% showed 100% concordance between NGS‐based STR typing and capillary electrophoresis (CE)‐based STR typing. The inconsistency might have been caused by off‐ladder alleles and mutations in primer binding sites. Overall, this panel enabled the large‐scale genotyping of the DNA samples with controlled quality and quantity because it is a simple, operation‐friendly process flow that saves labor, time and costs.     

水稻垩白性状的遗传研究进展

垩白性状是稻米最重要的品质性状之一,阐明水稻垩白性状的遗传机理十分重要.主要对水稻垩白的遗传基础、垩白数量性状位点(Quantitative trait loci,QTL)的定位及其垩白性状相关基因的分离与克隆进行了综述,并提出了相应的遗传改良措施,以期为优质水稻育种提供参考和借鉴.     

发散性教学法在遗传学教学中应用的探讨

对发散怀教学法在遗传学教育中的应用进行探讨，阐述发散性教学法作为一种课堂教学模式的科学性和可操作性，发散性教学法强调学生思维的主体性，强调教学方法的灵活性，强调教学功能的智能开发性。     

Genetic and neuroimaging studies of cholinergic-neurotrophic modulation of visual attention

Molecular genetics can provide complementary information to neuroimaging methods on the neural mechanisms of perception and cognition. We investigated the role of cholinergic and neurotrophic genes in the modulation of visual attention, as reflected in behavioral, ERP, and MRI measures. Three studies examined the influence of single nucleotide polymorphisms (SNPs) in a nicotinic cholinergic gene, CHRNA4, and a neurotrophic gene, APOE. An association was found between a CHRNA4 SNP and reaction time (RT) measures of orienting of visual attention in space. This behavioral finding was complemented by an association between the same SNP and ERP components reflecting early perceptual/attentional processing. In contrast to these relatively specific effects, the APOE e4 SNP had broad effects on cognition, including visual attention and working memory. An interaction was also found between APOE and CHRNA4 for white matter volume and RT measures of attentional efficiency. These studies confirm the role of nicotinic cholinergic innervation for visual attention and show the benefits of a “multi-level phenotyping” approach in the neurogenetics of attention.     

普及遗传病知识提高人口素质--浅谈师范院校开设医学遗传学课程的必要性

介绍了几年来在实现素质教育的背景下 ,通过为我校生物学系本科开设《医学遗传学》课程的整个教学实践活动 ,阐明了向师范院校学生普及医学遗传学原理和传授遗传病知识的必要性和迫切性 .它不仅有益于提高我国全民族人口的身体素质 ,而且对中学生物教学也将产生深远的影响 .     

Developing a new nonbinary SNP fluorescent multiplex detection system for forensic application in China

Nonbinary single‐nucleotide polymorphisms (SNPs) are potential forensic genetic markers because their discrimination power is greater than that of normal binary SNPs, and that they can detect highly degraded samples. We previously developed a nonbinary SNP multiplex typing assay. In this study, we selected additional 20 nonbinary SNPs from the NCBI SNP database and verified them through pyrosequencing. These 20 nonbinary SNPs were analyzed using the fluorescent‐labeled SNaPshot multiplex SNP typing method. The allele frequencies and genetic parameters of these 20 nonbinary SNPs were determined among 314 unrelated individuals from Han populations from China. The total power of discrimination was 0.9999999999994, and the cumulative probability of exclusion was 0.9986. Moreover, the result of the combination of this 20 nonbinary SNP assay with the 20 nonbinary SNP assay we previously developed demonstrated that the cumulative probability of exclusion of the 40 nonbinary SNPs was 0.999991 and that no significant linkage disequilibrium was observed in all 40 nonbinary SNPs. Thus, we concluded that this new system consisting of new 20 nonbinary SNPs could provide highly informative polymorphic data which would be further used in forensic application and would serve as a potentially valuable supplement to forensic DNA analysis.     

Development and validation of a forensic multiplex InDel assay: The AGCU InDel 60 kit

Marker sets based on insertion/deletion polymorphisms (InDels) combine the characteristics of both short tandem repeats (STRs) and single nucleotide polymorphisms and have served as effective complementary or stand-alone systems for human identification in forensics. We developed a novel multiplex amplification detection system, designated the AGCU InDel 60 kit, containing 57 autosomal InDels, 2 Y-chromosomal InDels, and the amelogenin locus and validated the kit in a series of studies, which included tests of the PCR conditions; tests for sensitivity, species specificity, reproducibility, stability, and mock case samples; degradation studies; and a population study. The results indicated that the AGCU InDel 60 kit was accurate, specific, reproducible, stable, and robust. Complete DNA profiles were obtained even with 125 pg of human DNA. In tests of artificially degraded samples, we found that the number of alleles detected by the validated kit was considerably greater than that detected by the STR-based AGCU 21+1 kit, even as the degree of degradation increased. Additionally, 564 unrelated individuals from three Han groups were investigated using this novel system, and the values of combined power of discrimination and combined power of exclusion were not less than 1–4.9026 × 10⁻²⁴ and 1–3.1123 × 10⁻⁵, respectively. Thus, the results indicated that the novel kit was more powerful than the previous version of the InDel kit (the AGCU InDel 50 kit). Our results suggest that the AGCU InDel 60 kit can serve as an efficient tool for human forensics and a supplementary kit for population genetics research.     

遗传学实验教学改革研究探索

分析了目前遗传学实验中存在的问题,提出了改进遗传学实验教学与考核的方法,以培养学生的创新能力。