Concepts In Molecular Genetics Research Articles

Integrating computer‐aided modeling into distance learning to teach molecular genetics during the COVID‐19 pandemic

This article presents the integration of Tinkercad, a free online modeling program that allows students to model molecular genetic concepts, into the distance learning process. The students had the opportunity to learn molecular genetics in a fun and more efficient way in spite of the limitations of the COVID-19 lockdown, and, in this respect, it can be said that the application was a good compensation for face-to-face learning.

The development of molecular genetics concept test for senior high school students using Rasch analysis

<span lang="EN-US">Developing a high-quality test item requires substantial time and effort. A well-developed item bank is conducted using rigorous development and validation procedures. This study aimed to describe the development process of molecular genetics concept test (MGCT) for senior high school students using Rasch analysis under <a name="_Hlk107307570"></a>Berkeley evaluation and assessment research (BEAR) assessment system framework. The test consists of 50 multiple-choice items to assess conceptual understanding of molecular genetics concepts. The MGCT was developed based on curriculum analysis from the Indonesian ministry of education and culture and content-validated by three content experts comprising an expert in biology, an expert in bioinformatics, and an experienced Indonesian biology teacher in a senior high school. The MGCT was then piloted to 114 students who had taught the molecular genetics unit from a senior high school to conduct the empirical validation. The results from Rasch analysis showed that the MGCT is acceptable because all items have outfit and infit mean-square values in the acceptable range of 0.7 to 1.3 and the reliability is 0.43. So, the MGCT can be used to assess the understanding of the molecular genetics concept. However, several items were too difficult to discriminate the student ability. So, future studies need to develop more this MGCT to get a more appropriate instrument.</span>

The Impact of 5E Instruction while Teaching Molecular Genetics in General Biology

The purpose of this research was to determine the effect of the 5E model on the understanding of the molecular genetics concepts taught in general biology. The research had a quantitative focus and a quasi-experimental design, and the participants were 40 undergraduate students from a private university in the west of Puerto Rico, which were divided in two control groups and one experimental group. The initial data was obtained through a pretest that measured the understanding of molecular genetics concepts. The treatment lasted six weeks and consisted of the instruction of the topics of DNA structure and replication, transcription, translation, and mutations. The after-instruction understanding of the concepts was evaluated through a posttest. The results showed that the 5E model had a significant effect (p < 0.05) in generating a higher understanding of the concepts presented.

The Effect of Bioinformatics Module on Molecular Genetics Concepts on Senior High School Students’ Computational Thinking Skills

This study aimed to investigate senior high school students’ computational thinking skills after implementing the Bioinformatics Module on molecular genetics concepts. The instructional approach used in the module is Computational Inquiry-based Teaching (CIbT). This study used a quasi-experiment method with a pretest-posttest control group design. The subjects in this study consist of 24 students in the control group and 38 students in the experimental group from a senior high school in Indonesia. The instrument used in this study is six items of computational thinking test. This module had four themes; Genetics Disease, Cancer, Forensic Science, and Evolution, conducted in 8 sessions. Each session lasted 90 minutes. The Bioinformatics Module consists of programming and databases, including unplugged computational activities and unplugged activities including coding using Python, searching in Uniprot, and using BLAST in NCBI. The CIbT has five steps: orientation, conceptualization, investigation, conclusion, and discussion. The Mann-Whitney test results showed that the p-value from N-Gain data is < 0.01. So, Bioinformatics Module on molecular genetics concepts using CIbT can improve computational thinking skills of senior high school students. For further implementation, biology teachers must prepare to use the Bioinformatics Module, including biology teachers’ understanding of molecular genetics and bioinformatics practices to enrich the learning experience in the Bioinformatics Module.

Investigating Causal Genetic Variation in the yellow Gene of Drosophila melanogaster as a Means of Teaching Foundational Molecular Genetic Concepts & Techniques

How genetic variation influences phenotypic variation is of importance to many biological disciplines, including evolutionary biology, biomedicine, and agriculture. Nevertheless, students frequently struggle to make connections across levels of biological organization, which can make it challenging to facilitate understanding of how nucleotide variation gives rise to organismal variation. At the same time, biology students are now expected to gain early experience with cornerstone techniques from molecular biology, so that these skills can be reinforced and expanded upon. Here we describe a five-to-seven-week sequencing project that examines genetic and phenotypic variation in wild-type and yellow-bodied fruit flies and, in the process, exposes students to several foundational techniques in molecular biology. In addition, students analyze partial yellow gene sequences from PCR products using the freely available bioinformatics suite UGENE and in doing so are introduced to core bioinformatics skills. The entire project is framed around the axiom that if the yellow gene controls phenotypic differences in body color between wild-type and yellow-bodied flies, it should be possible to identify causal variation in yellow sequences from wild-type versus yellow-bodied flies. This project relies on guided inquiry and can be used in 1000- or 2000-level molecular biology courses and advanced high school laboratories.

Punnett Squares or Protein Production? The Expert-Novice Divide for Conceptions of Genes and Gene Expression.

Concepts of molecular biology and genetics are difficult for many biology undergraduate students to master yet are crucial for deep understanding of how life works. By asking students to draw their ideas, we attempted to uncover the mental models about genes and gene expression held by biology students (n = 23) and experts (n = 18) using semistructured interviews. A large divide was identified between novice and expert conceptions. While experts typically drew box-and-line representations and thought about genes as regions of DNA that were used to encode products, students typically drew whole chromosomes rather than focusing on gene structure and conflated gene expression with simple phenotypic outcomes. Experts universally described gene expression as a set of molecular processes involving transcription and translation, whereas students often associated gene expression with Punnett squares and phenotypic outcomes. Follow-up survey data containing a ranking question confirmed students’ alignment of their mental models with the images uncovered during interviews (n = 156 undergraduate biology students) and indicated that Advanced students demonstrate a shift toward expert-like thinking. An analysis of 14 commonly used biology textbooks did not show any relationship between Punnett squares and discussions of gene expression, so it is doubtful students’ ideas originate directly from textbook reading assignments. Our findings add to the literature about mechanistic reasoning abilities of learners and provide new insights into how biology students think about genes and gene expression.

Effect of the REACT strategy on senior high school students’ achievement in molecular genetics

Molecular genetics, a key concept in biology, is found to be very difficult for students at the senior high school level. A situation largely blamed on teachers' instructional approaches. Since the Relating, Experiencing, Applying, Cooperating and Transferring (REACT) strategy is reported to be an effective pedagogical approach for improving students' understanding of science concepts, in this paper, we sought to explore its effectiveness on Senior High School students' achievement in molecular genetics in Ghana. To do this, the embedded mixed methods research design was employed. Two intact biology classes selected through simple random sampling were assigned as experimental and control groups and taught with the REACT strategy and the conventional approach respectively. Quantitative data were obtained with pre-test-post-test control group design and analysed with Independent sample t-test and ANOVA. The qualitative data on students’ perception of learning with the REACT strategy was obtained through interviews and analysed thematically. The findings showed that the REACT strategy was more effective for teaching molecular genetic compared with the conventional approach. Although REACT could not bridge the gap between low and high achievers in that group, the performance of low achievers in the REACT group was at par with high achievers in the conventional group. Students perceived the opportunity to search and share information as well as relate new concepts to prior learning provided by the REACT strategy to have facilitated their understanding of concepts in molecular genetics. It is recommended that biology teachers use the REACT strategy to teach concepts students find problematic.

[Triple-negative breast cancer. Modern molecular genetic concepts and their clinical significance].

Triple negative breast cancer (BC) is a heterogeneous group of carcinomas that substantially differ in clinical, morphological, and molecular genetic characteristics, tumor response to chemotherapy, and prognosis. These features define triple negative BC today as a special clinical problem that has not yet been completely solved. The review is devoted to the description and systematization of the currently available literature data concerning molecular and genetic features and differences in a fairly significant group of breast carcinomas with a severe, aggressive course and an extremely poor prognosis. The review presents the existing molecular genetic classification of triple negative BC based on the results of studies conducted by M.D. Burstein (2015) and B.D. Lehmann (2016), which determines the presence of 4 tumor-specific subtypes: basal-like type (type 1 and type 2), mesenchymal, and luminal androgen receptor types. The paper reflects the main stages of transformation of the proposed classification over the past decade and an attempt has been make to describe the molecular characteristics of each subtype of these carcinomas.

New and Emerging Biomarkers in Endocrine Pathology.

Significant advances in genomics and molecular genetics in recent years have reshaped the practice of endocrine pathology. Pan-genomic studies, including the pioneering ones on papillary thyroid carcinoma, phaeochromocytoma/paraganglioma, and adrenal cortical carcinoma from the Cancer Genome Atlas (TCGA) project, provided a comprehensive integrated genomic analysis of endocrine tumors into distinct molecularly defined subtypes. Better understanding of the molecular landscape and more accurate definition of biological behavior has been accordingly achieved. Nevertheless, how any of these advances are translated into routine practice still remains a challenge in the era of precision medicine. The challenge for modern pathology is to keep up the pace with scientific discoveries by integrating novel concepts in tumor classification, molecular genetics, prognostication, and theranostics. As an example, pathology plays a role in the identification of hereditary disease, while it offers the tools for complementing molecular genetics, for example, validation of variants of unknown significance deriving from targeted sequencing or whole exome/genome sequencing approach. Immunohistochemistry has arisen as a cost-effective strategy in the evaluation either of somatic mutations in tumors and/or germline mutations in patients with familial cancer syndromes. Herein, a comprehensive review focusing on novel and emerging biomarkers is presented in order pathologists and other endocrine-related specialists to remain updated and become aware of potential pitfalls and limitations in the field of endocrine pathology.

Current concepts in molecular genetics and management guidelines for pancreatic cystic neoplasms: an essential update for radiologists.

Cystic neoplasms in the pancreas are encountered frequently on imaging, often detected incidentally during evaluation for other conditions. They can have a variety of clinical and imaging presentations, and similarly, wide-ranging prognostic and treatment implications. In the majority, imaging helps in diagnosis of pancreatic cystic neoplasms (PCNs) and guides management decisions. But, a significant minority of the PCNs remain indeterminate. There have been multiple recent advances in biomarkers and molecular genetics which will likely prove helpful in risk stratification of PCNs. Several prominent national and international societies, as well as consensus groups have put forth recommendations to help guide management of PCNs. The purpose of this article is to discuss the role of imaging in evaluation of PCNs, review the recent advances in molecular genetics and pancreatic cyst fluid analysis, and analyze the pros and cons of major evidence-based and consensus guidelines for management of PCNs.

Introducing a molecular basis to physiology in undergraduate medical education.

Medical professionals in India need to understand the concepts of molecular genetics to stay up-to-date with clinical care as well as to strengthen basic research in the biomedical sciences. We introduced a modular course on 'Fundamentals in molecular and cellular biology' for first-year medical undergraduate students in the second semester of the first MBBS year in 2015, as part of 'Innovations in teaching physiology' at St John's Medical College. This was a voluntary, add-on course with didactic lectures, hands-on practical classes and a research paper presentation. Evaluation of students' performance in the course took into account their performance in the research paper presentation-based group activity and their attendance for the hands-on practical sessions. Feedback on the content, delivery, evaluation and future improvements of the course was sought from the students. About 65% of students regularly attended the 10-hour long course. Of the students evaluated for the course, 43% achieved the highest, and 11% achieved the lowest grade assigned. Nearly 72% of the students provided feedback on the course. This first outing of the modular course on 'Fundamentals in molecular and cellular biology' generated excitement among the students and achieved some learning for them. It also brought to light hidden challenges in conducting such a voluntary course for medical students in India. Our experience with the course will help in designing a better-integrated course for exposure of first-year medical students to advances in molecular biology and its applied aspects as they progress through the MBBS course.

Impact of professional learning on teachers’ representational strategies and students’ cognitive engagement with molecular genetics concepts

A variety of practices and specialised representational systems are required to understand, communicate and construct molecular genetics knowledge. This study describes teachers’ use of multimodal representations of molecular genetics concepts and how their strategies and choice of resources were interpreted, understood and used by students to demonstrate their conceptual understanding. Recordings of teachers’ and students’ discourse around representations, teacher interviews and student pre- and post-tests were used as data sources. Vignettes of students’ dialogue with teachers around the form and function of representations and teacher interview responses highlight higher order conceptual understanding. Coding for cognitive domains within lesson phases where different modes of representation were utilised showed classrooms operated at higher domains compared to lessons where modalities were absent. This study shows how pedagogy that focuses on representational form and function as well as students’ engagement in critical discussion around affordances and constraints of representations results in a higher cognitive engagement with molecular genetics knowledge.

Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic Epidemiology

With the decrease in sequencing costs, personalized genome sequencing will eventually become common in medical practice. We therefore write this series of three reviews to help non-geneticist clinicians to jump into the fast-moving field of personalized medicine. In the first article of this series, we reviewed the fundamental concepts in molecular genetics. In this second article, we cover the key concepts and methods in genetic epidemiology including the classification of genetic disorders, study designs and their implementation, genetic marker selection, genotyping and sequencing technologies, gene identification strategies, data analyses and data interpretation. This review will help the reader critically appraise a genetic association study. In the next article, we will discuss the clinical applications of genetic epidemiology in the personalized medicine area.

Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 1. Fundamental Concepts in Molecular Genetics.

With the decrease in sequencing cost and the rise of companies providing sequencing services, it is likely that personalized whole-genome sequencing will eventually become an instrument of common medical practice. We write this series of three reviews to help non-geneticist clinicians get ready for the major breakthroughs that are likely to occur in the coming years in the fast-moving field of personalized medicine. This first paper focuses on the fundamental concepts of molecular genetics. We review how recombination occurs during meiosis, how de novo genetic variations including single nucleotide polymorphisms (SNPs), insertions and deletions are generated and how they are inherited from one generation to the next. We detail how genetic variants can impact protein expression and function, and summarize the main characteristics of the human genome. We also explain how the achievements of the Human Genome Project, the HapMap Project, and more recently, the 1000 Genomes Project, have boosted the identification of genetic variants contributing to common diseases in human populations. The second and third papers will focus on genetic epidemiology and clinical applications in personalized medicine.

Jumping on the Train of Personalized Medicine: A Primer for Non- Geneticist Clinicians: Part 3. Clinical Applications in the Personalized Medicine Area.

The rapid decline of sequencing costs brings hope that personal genome sequencing will become a common feature of medical practice. This series of three reviews aim to help non-geneticist clinicians to jump into the fast-moving field of personalized genetic medicine. In the first two articles, we covered the fundamental concepts of molecular genetics and the methodologies used in genetic epidemiology. In this third article, we discuss the evolution of personalized medicine and illustrate the most recent success in the fields of Mendelian and complex human diseases. We also address the challenges that currently limit the use of personalized medicine to its full potential.

Shaping tRNA

This model-building activity provides a quick, visual, hands-on tool that allows students to examine more carefully the cloverleaf structure of a typical tRNA molecule. When used as a supplement to lessons that involve gene expression, this exercise reinforces several concepts in molecular genetics, including nucleotide base-pairing rules, the importance of molecular shape, the consequences of genetic mutation, and similarities and differences between DNA and RNA.

Improved student linkage of mendelian and molecular genetic concepts through a yeast‐based laboratory module

A study of modern genetics requires students to successfully unite the principles of Mendelian genetics with the functions of DNA. Traditional means of teaching genetics are often successful in teaching Mendelian and molecular ideas but not in allowing students to see how the two subjects relate. The laboratory module presented here attempts to present classical and molecular genetic concepts together as an inquiry-based exploration appropriate for high school or introductory undergraduate students. Using the non-essential APQ12 gene in the budding yeast Saccharomyces cerevisiae, students perform PCR, selective growth, and sporulation experiments to establish the ploidy and APQ12 zygosity of a series of unknown strains. Each experiment contributes data to characterize the unknown strains, but complete characterization is not possible without assimilating the data from all of the experiments. The module allows students to consider concepts normally introduced and emphasized in Mendelian genetics and explore them using molecular and experimental tools. Comparison of pre-module and post-module assessment surveys show an increase in student ability to link Mendelian concepts to experimental procedures relying on DNA analysis. The development of modules such as these provides students of all backgrounds with the tools to engage the complexities and issues that constitute modern principles of inheritance.

High School Students’ Attitudes Associated with Biotechnology and Molecular Genetics Concepts in Brazil

There is an enormous gap between scientific production and scientific education in Genetics and Bio-technology concerning stem cells, transgenics, genetically engineered medicines and so on. In order to investigate the knowledge and the perception of these concepts among teenagers, a total of 334 surveys were distributed to high school students in one private and two state schools in theRio de Janeirostate,Brazil. Interviews were also used as a qualitative tool to assess the validity of the data obtained in the surveys. Students reported clear ideas about transgenics, but not about genetic engineering of recombinant medication or genomics. The results suggest that when issues are discussed,instead of being explained, they are better assimilated by students, and that association of information in the press with school classes may help to spread scientific concepts.

Clusters of concepts in molecular genetics: a study of Swedish upper secondary science students understanding

To understand genetics, students need to be able to explain and draw connections between a large number of concepts. The purpose of the study reported herein was to explore the way upper secondary science students reason about concepts in molecular genetics in order to understand protein synthesis. Data were collected by group interviews. Concept maps were constructed using the interview transcripts, and analysed. The most central concept was DNA, which served as a link between the concepts of genes and proteins. Students spontaneously introduced concepts from classical genetics to explain molecular genetics. The concept maps generated from the different group interviews were similar in that various concepts consistently appeared within specific sub-groups of interconnected concepts, ie clusters. Five main clusters were identified. The students were better able to relate between concepts within a cluster than between concepts in different clusters. The clusters can be seen as representations of the students’ knowledge structures, and could be used as starting points in teaching genetics. We recommend that courses in genetics should begin by focusing on students’ existing connections between concepts from different clusters and then point out concepts that feature in two or more clusters such as DNA, gene, and protein.

Ten Simple Rules for Teaching Bioinformatics at the High School Level

Fran Lewitter is Education Editor of PLoS Computational Biology. Given the availability of free, online genomic databases and tools for the analysis of biological data, it is now feasible to teach bioinformatics in the high school classroom [1]. There are a number of reasons why it is appropriate and desirable to introduce bioinformatics at the high school level. Students can engage in inquiry-based activities that involve approaching real-world problems using 21st century skills, while being tailored to high school biology frameworks. Many tools, such as 3-D protein visualization software, allow for differentiated and highly interactive instruction. The foremost reason may be that students can develop a research toolkit that they will be able to use subsequently during college and beyond. As a high school science teacher for the past 23 years, I (DF) have had the opportunity to incorporate bioinformatics into my courses to enrich the teaching of concepts of molecular biology, human biology, genetics, and evolution, providing increased opportunities for effective differentiated instruction and individual student research. This past experience has inspired the creation of this set of Ten Simple Rules. It is important to distinguish between curricula designed to teach the fundamentals of bioinformatics and those that utilize bioinformatics as a teaching tool. Examples of both types of successful teaching can be found in Text S1, Text S2, and Text S3.