《遗传学》微课比赛在教学过程中的应用

《遗传学》在生命科学中占有重要地位,是生物学及相关专业的骨干课程,其知识范围广,知识点琐碎,且常与数学、分子生物学、生物信息学等学科交集,是学习难度较大的课程。微课是基于现代计算机技术和网络技术兴起的一种以单个知识点为讲授内容的视频授课方式。为了解决《遗传学》课程知识点琐碎、知识点较难的实际问题,笔者将微课比赛带入课堂,旨在提升教学效果。     

Genetic and environmental bases of reading and spelling: A unified genetic dual route model

We develop and test a dual-route model of genetic effects on reading aloud and spelling, based on irregular and non-word reading and spelling performance assessed in 1382 monozygotic and dizygotic twins. As in earlier research, most of the variance in reading was due to genetic effects. However, there were three more specific conclusions: the first was that most of the genetic effect is common to both regular and irregular reading. In addition to this common variance evidence was found for distinct genes influencing the acquisition of a lexicon of stored words, and additional genetic effects influencing the acquisition of grapheme–phoneme correspondence rules. The third conclusion, from a combined model of reading and spelling, is that reading and spelling have a common genetic basis. Models that did not distinguish lexical and non-lexical performance fit significantly worse than dual route genetic models. An implication of the research is that models of reading, whether connectionist or dual-route, must allow for the genetic independence of neurological processes underlying the decoding of non-words and irregular words.     

基于雨课堂的医学遗传学混合式教学模式的应用研究

在“互联网+”背景下,开展混合式教学是教育创新改革的迫切需要。“医学遗传学”课程教学中引入新型智慧教学工具“雨课堂”,通过课前资料推送、课中实时互动、课后测试反馈、学习过程全程评价等方法开展混合式教学,提高了学生学习的主动性和积极性,提升了课堂教学质量。     

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

Objective: To explore the frequency and significance of ApoE gene polymorphisms in Chinese patients with atherosclerotic cerebral infarction (ACI). Methods: Polymerase chain reaction and gene sequencing, single nucleotide polymorphisms of ApoE gene were used to analyze 33 cases of patients with ACI and 35 controls. Results: The frequencies of ApoE gene single nucleotide polymorphisms 465C/G, 462C/G and 451delC in the ACI group were significantly higher than those in the control group (P<0.05). The prevalence of polymorphism 486G/T in the control group was significantly higher than that in the ACI group (P=0.011). Conclusions: 465C/G,462C/G and 451delC polymorphisms might be associated with ACI.486GT allele might have protective effect on the pathogenesis of ACI.     

Correlates of spelling abilities in children with early speech sound disorders

The correlates of spelling impairment wereexamined in children with histories of earlyspeech sound disorders. The spelling errors of52 children with histories of speech sounddisorders were analyzed to predict theassociation between weaknesses in expressivelanguage skills in early childhood andschool-age spelling abilities. Resultsrevealed that children with preschool speechsound and language problems became poorerspellers at school age than did children withpreschool speech sound disorders only. However, even children with isolated speechsound disorders demonstrated a weakness inspelling skills relative to their reading andlanguage abilities and Weschler Performance IQ.Measures of phonological awareness were highlycorrelated with spelling skills, suggestingthat phonological processing abilities arerelated to the ability to spell phoneticallypredictable words. Analysis of spelling errorsbased on level of phonological awareness skillrevealed that children with preschool speechsound disorders utilize phonetic strategies inspelling phonetically predictable words. Familial aggregation of spelling disorderssuggests a possible genetic component that ismodified by gender.     

Definition of historical models of gene function and their relation to students’ understanding of genetics

Models are often used when teaching science. In this paper historical models and students’ ideas about genetics are compared. The historical development of the scientific idea of the gene and its function is described and categorized into five historical models of gene function. Differences and similarities between these historical models are made explicit. Internal and external consistency problems between the models are identified and discussed. From the consistency analysis seven epistemological features are identified. The features vary in such ways between the historical models that it is claimed that learning difficulties might be the consequence if these features are not explicitly addressed when teaching genetics. Students’ understanding of genetics, as described in science education literature, is then examined. The comparison shows extensive parallelism between students’ alternative understanding of genetics and the epistemological features, i.e., the claim is strengthened. It is also argued that, when teaching gene function, the outlined historical models could be useful in a combined nature of science and history of science approach. Our findings also raise the question what to teach in relation to preferred learning outcomes in genetics.     

Telephone Testing and Teacher Assessment of Reading Skills in 7-year-olds: II. Strong Genetic Overlap

In a companion paper, word recognition skills assessed by telephone using the Test of Word Reading Efficiency (TOWRE) were found to correlate highly with National Curriculum (NC) teacher-assessed reading ability in 7-year-old twins. This study examined the genetic and environmental origins of this high correlation. TOWRE and NC scores were both highly heritable and the correlation between them was largely due to overlapping genetic effects. These findings were obtained both across the normal range of reading abilities and at the low extreme, defined by scores below a 13.4% cut-off on either measure. TOWRE and NC scores may provide promising phenotypes for further study of the aetiology of early reading abilities and disabilities.     

高中生物必修2《遗传与进化》新旧教材比较与解读 ——以《生物的进化》章节变化为例

高中生物必修2《遗传与进化》是由《普通高中课程标准实验教科书生物》修订而来,修订的主要依据为《普通高中生物学课程标准(2017年版)》.以人教版2019年版教材《遗传与进化》中《生物的进化》章节变化为例,从新旧教材的引言、内容、插图、栏目设置、文章小结、课后习题分析等6个方面进行对比,了解新教材的特点,以期促进学生全面...     

Tour de France Champions born or made: where do we take the genetics of performance?

ABSTRACT

Cyclists in the Tour de France are endurance specialists. Twin and family studies have shown that approximately 50% of the variance in a number of performance-related phenotypes (whether measured at baseline, i.e., natural talent, or in response to training) including those important to cycling can be explained by genetic variation. Research into the specific genetic variants that are responsible has identified over 200 genes containing common genetic variants involved in the genetic predisposition to physical performance. However, typically these explain only a small portion of the variance, perhaps 1–2% and collectively they rarely explain anything approaching the 50% of the variance identified in the twin and family studies. Thus, there is a gap in our understanding of the relationship between heritability and performance. This gap may be bridged by investigation of rare variants or epigenetic variation or by altering study designs through increased collaborations to pool existing cohorts together. Initial findings from such efforts show promising results. This mini-review will touch on the genetics and epigenetics of sporting performance, how they relate to cyclists in the Tour de France and where best future efforts may be directed as well as discuss some preliminary research findings.     

人类的线粒体疾病

针对人类的线粒体疾病,阐述人类线粒体mtDNA的结构特点、线粒体疾病的定义及其遗传学特点;线粒体疾病的病因和发病几率以及常见的人类线粒体疾病;介绍了现已掌握的线粒体疾病的治疗方法,展望了线粒体疾病的未来研究方向。