Contextualization

Biology is an empirical science that seeks to understand life in its various forms and complexities. Within it, Genetics studies heredity, that is, the transfer of physical and biological characteristics from one generation to the next. One of the most effective methods for studying genetic inheritance is the Pedigree, a chart that records the hereditary characteristics of a family over several generations.

The Pedigree is a valuable tool in Biology and Medicine, as it facilitates the understanding of the transmission of genetic characteristics, being able to assist in the diagnosis, prevention, and research of hereditary diseases. It allows representing the inheritance of a specific trait over several generations of a family, enabling a more detailed study of genetic diseases.

Our project will not only focus on Genetics but will also require knowledge in other areas such as Mathematics, particularly Statistics and Probability. Through the use of pedigrees, it will be necessary to calculate the probabilities of someone inheriting a specific genetic trait or disease. Therefore, it is an integrated way to learn these two disciplines.

Genetics and its application in real-world problems, such as the diagnosis of genetic diseases, are of great importance. Through the Pedigree, we can not only understand inheritance patterns but also take preventive measures based on our knowledge of such patterns. This project, therefore, aims to provide you, students, with an experiential experience to understand the functioning of genetic laws and apply them in real situations.

The following sources are suggested for research and further study:

1. Genetics Fundamentals: This article offers an overview of Genetics, addressing from the historical background to the basic fundamentals.
2. The Pedigree and the inheritance of blood groups: This link provides a detailed understanding of pedigrees and discusses the inheritance of blood types.
3. Introduction to Probability: This article offers an introduction to the concept of probability, which will be applied during the project.
4. Molecular Genetics and Medicine: This article reveals the importance of genetics in medicine and how genetic knowledge can help in the diagnosis and treatment of diseases.

Practical Activity: Rebuilding Pedigrees and Calculating Genetic Probabilities

Project Objective

The main objective is to develop students' ability to construct and interpret pedigrees, as well as to calculate associated genetic probabilities. This will allow a concrete understanding of the laws of inheritance and how they can be applied in the real world.

Detailed Project Description

The project will be carried out in groups of 3 to 5 students and is expected to last more than 12 hours per participating student. It consists of three main parts:

1. Case Study of a Genetic Disease: Students should choose a genetic disease and study it deeply. They should understand the nature of the disease, how it is inherited, and what its consequences are.

2. Construction of a Pedigree: Using the knowledge acquired in the first part, students should simulate a family with the chosen disease and build a pedigree that shows the transmission of the disease over generations.

3. Calculation of Genetic Probabilities: With the constructed pedigree, students should calculate the probabilities of a specific family member inheriting the disease.

Required Materials

Students will need internet access for research, paper and pens for drafts, a graphics editing software to create a digital pedigree (can be a freely available online tool), and calculators to perform probability calculations.

Detailed Step-by-Step for Activity Execution

1. Form groups of 3 to 5 students and distribute the project instructions sheet.
2. Research and choose a genetic disease for the case study.
3. Conduct a detailed research on the nature of the disease, how it is inherited, and what its consequences are.
4. Simulate a family with the chosen disease and build a pedigree that shows the transmission of the disease over generations. Use a graphics editing software to create a digital pedigree.
5. Based on the pedigree, calculate the probabilities of a specific family member inheriting the disease.
6. Prepare a detailed report containing all three parts of the project, your conclusions, and the sources used for research.

Project Deliverables

The main product to be delivered by each group is a detailed written report containing the following topics: Introduction, Development, Conclusions, and Bibliography.

1. Introduction: Contextualization of the project, relevance and application of Genetics and, particularly, the Pedigree in the real world. It should also contain the objective of this project.

2. Development: Detailed description of the chosen genetic disease, explanation of the constructed pedigree, methodology used for probability calculation, and presentation and discussion of the results.

3. Conclusions: Recap of the main points of the project, recapitulation of the learnings obtained, and the conclusions drawn about the project.

4. Bibliography: Indication of the sources used for research and project execution.

In addition, the digitally created pedigree must be attached to the report.

The purpose of this delivery is to allow students to systematize their knowledge acquired during the practical activity in a recognized academic format, as well as to develop scientific writing skills.