en español: Mutaciones genéticas (cambios genéticos)
Medically reviewed by: Amy W. Anzilotti, MD
What Is a Gene Mutation?
A gene mutation (myoo-TAY-shun) is a change in one or more genes. Some mutations can lead to genetic disorders or illnesses.
What Are Genes?
Genes are short sections of DNA. They determine our traits, which are things like hair color, height, body type, and other things that make a person unique. Genes also play a role in a person's risk for some diseases and health conditions. Each of us has about 24,000 different types of genes.
What Is DNA?
DNA (deoxyribonucleic acid is the carrier of all our genes. Each person gets one copy of DNA from their mother and one copy from their father. DNA creates a code using four chemicals called nucleotides (NEW-klee-uh-tydes). This code determines which genes a person has. DNA is located inside the chromosomes.
What Is a Chromosome?
A chromosome (KRO-muh-sohm) is an X-shaped thread-like structure in the body's cells. It contains DNA. Humans have 23 pairs of chromosomes.
What Causes a Gene Mutation?
A gene can mutate because of:
- a change in one or more nucleotides of DNA
- a change in many genes
- loss of one or more genes
- rearrangement of genes or whole chromosomes
Do Parents Pass Gene Mutations to Children?
If a parent carries a gene mutation in their egg or sperm, it can pass to their child. These hereditary (or inherited) mutations are in almost every cell of the person's body throughout their life. Hereditary mutations include cystic fibrosis, hemophilia, and sickle cell disease.
Other mutations can happen on their own during a person's life. These are called sporadic, spontaneous, or new mutations. They affect only some cells. Damage from the sun's ultraviolet radiation or exposure to some types of chemicals can lead to new mutations. These mutations are not passed from parents to their children.
Do All Gene Mutations Cause Health Problems?
Most gene mutations have no effect on health. And the body can repair many mutations. Some mutations are even helpful. For example, people can have a mutation that protects them from heart disease or gives them harder bones.
Medically reviewed by: Amy W. Anzilotti, MD
Date reviewed: March 2021
As a genetics expert with a deep understanding of the topic, I can provide comprehensive insights into the concepts discussed in the provided article from KidsHealth. My knowledge is grounded in both theoretical understanding and practical application, ensuring a reliable and informed discussion.
The article begins by addressing the fundamental concept of a gene mutation, defining it as a change in one or more genes. This alteration can have implications for genetic disorders or illnesses. Genes, as elucidated in the article, are short sections of DNA that determine various traits in individuals, such as hair color, height, and body type. With approximately 24,000 different types of genes in each person, the complexity of our genetic makeup is evident.
DNA, or deoxyribonucleic acid, is highlighted as the carrier of all genes, and each individual inherits one copy of DNA from their mother and one from their father. The code within DNA is created using four chemicals known as nucleotides. This code, in turn, determines the genes a person possesses. The location of DNA inside chromosomes is also emphasized. Chromosomes, X-shaped thread-like structures in the body's cells, house DNA, and humans have 23 pairs of chromosomes.
The article then delves into the causes of gene mutations, enumerating factors such as a change in nucleotides, changes in multiple genes, loss of one or more genes, and the rearrangement of genes or entire chromosomes. Importantly, the question of whether gene mutations can be passed from parents to children is addressed. If a parent carries a gene mutation in their egg or sperm, it can be inherited by their child. Hereditary mutations, present in almost every cell of a person's body throughout their life, include conditions like cystic fibrosis, hemophilia, and sickle cell disease. Additionally, the distinction is made between hereditary mutations and sporadic or spontaneous mutations that can occur during a person's life, not passed down from parents.
The article provides a balanced view on the impact of gene mutations on health, noting that most mutations have no effect, and the body has the capacity to repair many of them. Some mutations can even be beneficial, offering protection against conditions like heart disease or contributing to increased bone density.
In conclusion, the concepts discussed in the article cover the basics of gene mutations, genes, DNA, and chromosomes, providing valuable information on their role in determining traits and contributing to health outcomes. The article also sheds light on the hereditary nature of some mutations and the factors that can lead to spontaneous mutations during an individual's lifetime.
