Topic: Human genetic diseases caused by gene mutations

Target group

8th‑grade students of elementary school

Core curriculum

General aim of education

The student will find out which genetic diseases are caused by gene mutations

Key competences

• communication in foreign languages;

• digital competence;

• learning to learn.

Criteria for success
The student will learn:

• to distinguish between hereditary and non‑hereditary changes and to give examples of them;

• to give examples of human diseases that are caused by mutations.

Methods/techniques

• expository

  • talk.

• activating

  • discussion.

• exposing

  • exposition.

• programmed

  • with computer;

  • with e‑textbook.

• practical

  • exercices concerned.

Forms of work

• individual activity;

• activity in pairs;

• activity in groups;

• collective activity.

Teaching aids

• e‑textbook;

• notebook and crayons/felt‑tip pens;

• interactive whiteboard, tablets/computers.

Lesson plan overview

Before classes

• Students get acquainted with the content of the abstract. They prepare to work on the lesson in such a way to be able to summarize the material read in their own words and solve the tasks themselves.

• Students search in available sources (eg Internet, encyclopedia of health, other literature) for 3 examples of inherited diseases, pattern of inheritance of these diseases, frequency of occurrence and symptoms.

Introduction

• The teacher gives the topic, the goals of the lesson in a language understandable for the student, and the criteria of success.

Realization

• The teacher asks students to read the abstract themselves, paying particular attention to the illustrations.

• The teacher explains what types of mutations can be inherited. He also draws attention to the fact that in the case of humans the majority of genetic diseases are caused by mutations in single genes. These diseases can be inherited in a recessive, dominant or sex‑linked..

• The teacher presents an illustration of „Selected hereditary diseases caused by gene mutations” and discusses examples of inherited genetic diseases. Then he asks volunteers to complete the information from the table and provide some diseases not mentioned in the table, on which the students obtained information by working alone at home.

• The lecturer draws attention to, for example, the table on sickle cell anemia. The allele that causes this disease is very rare among people coming from areas free of malaria. However, in the endemic areas of malaria, heterozygotes with a defective gene copy constitute a significant percentage of the human population. This is because about 40% of the red blood cells of these people have an incorrect shape, preventing infection with malaria parasite. In this case, people with one copy of the mutant gene are better adapted to local environmental conditions.

• The lecturer draws attention to, for example, the table on sickle cell anemia. The allele that causes this disease is very rare among people coming from areas free of malaria. However, in the endemic areas of malaria, heterozygotes with a defective gene copy constitute a significant percentage of the human population. This is because about 40% of the red blood cells of these people have an incorrect shape, preventing infection with malaria parasite. In this case, people with one copy of the mutant gene are better adapted to local environmental conditions.

• Students, working individually or in pairs, carry out interactive exercises to check and consolidate knowledge learned during the lesson. Selected people discuss the correct solutions for interactive exercises. The teacher completes or corrects the statements of the proteges.

Summary

• The teacher asks students to carry out the recommended interactive exercise themselves.

• At the end of the class, the teacher asks the students questions:

  • What did you find important and interesting in class?

  • What was easy and what was difficult?

  • How can you use the knowledge and skills you have gained today?

  Willing/selected students summarize the lesson.

Homework

• Imagine that you have the opportunity to interview an academic - a specialist in the field of today's lesson. What questions would you like to ask him? Write them down.

The following terms and recordings will be used during this lesson

Terms

Texts and recordings

Human genetic diseases caused by gene mutations

Most genetic diseases are caused by mutations in single genes. The mutated allele is usually recessive. If it occurs in the population once per 100 alleles, then the probability of developing a particular disease is 1: 10,000. Genetic diseases are usually very severe and incurable. Medicine can only relieve their symptoms.

One of the more common recessive genetic diseases caused by gene mutation is cystic fibrosis. This disease is caused by a mutation in the gene located on chromosome 7. Cystic fibrosis is the production of thick mucus by the glands lining the airways and the digestive system. Huge amounts of sticky mucus impede breathing and digestion and facilitate the development of pathogenic bacteria. Over 1,600 different mutations of this gene are known to cause this disease.

Another common genetic disorder caused by recessive mutation is phenylketonuria. People with this disease do not have the enzyme that breaks down the phenylalanine amino acid, which, when its level is too high, can damage the nervous system. Early detection of the disease allows to start a diet low in phenylalanine, which limits the effects of the disease.

• The diseases caused by gene mutations include: cystic fibrosis and phenylketonuria, conditioned by recessive alleles, and Huntington's chorea, conditioned by the dominant allele.