What changes in genes may lead to diseased states?

What changes in genes may lead to diseased states?

• A. Polymorphisms
• B. Alterations
• C. Mutations
• D. Transformations

Answer: (C)

The term "mutations" refers to permanent alterations in the DNA sequence that can affect a gene's function. These changes can result in a wide range of effects, from benign to pathogenic, depending on the nature of the mutation and its impact on the protein or RNA products of the gene. Mutations may occur due to various factors including environmental influences, errors in DNA replication, or can be inherited from parents. In the context of diseases, mutations can lead to the production of dysfunctional proteins, loss of biological function, or even gain of harmful functions, thereby contributing to the development of various genetic disorders. While polymorphisms refer to common variants in a population that may be associated with susceptibility to diseases, they are typically not harmful on their own. Alterations is a more generic term that does not specifically imply a change's impact on health. Transformations often refer to a process by which cells take on a different form, often used in cancer biology, rather than a direct change in genes. Therefore, mutations are the most precise term for describing the specific changes in genes that result in diseases.

The term "mutations" refers to permanent alterations in the DNA sequence that can affect a gene's function. These changes can result in a wide range of effects, from benign to pathogenic, depending on the nature of the mutation and its impact on the protein or RNA products of the gene. Mutations may occur due to various factors including environmental influences, errors in DNA replication, or can be inherited from parents. In the context of diseases, mutations can lead to the production of dysfunctional proteins, loss of biological function, or even gain of harmful functions, thereby contributing to the development of various genetic disorders.

While polymorphisms refer to common variants in a population that may be associated with susceptibility to diseases, they are typically not harmful on their own. Alterations is a more generic term that does not specifically imply a change's impact on health. Transformations often refer to a process by which cells take on a different form, often used in cancer biology, rather than a direct change in genes. Therefore, mutations are the most precise term for describing the specific changes in genes that result in diseases.