Genetic diseases are classified as diseases caused by genetic mutations.

The mutations can come as;

  • One gene i.e monogenic disorders such as cystic fibrosis
  • Many genes i.e polygenic and also influenced by the environment i.e multifactorial (multiple factors) disorders such as Alzheimer’s disease

There are two types of mutations(based on what type of proteins they affect) that can cause genetic diseases:

  1. Mutations in proteins expressed in all cells of the body
  2. Mutations in proteins expressed in certain tissues of the body

Mutations in proteins expressed in all cells of the body

  • These are housekeeping protein mutations.
  • They are called housekeeping proteins because they have basic and regulatory functions in all cells of the body.
  • The phenotypic expression of these mutations is seen in a few tissues.
  • An example is Lysosomal storage disorders (lysosomal genes are housekeeping genes; we need lysosomes in all body cells)

Mutations in proteins expressed in certain tissues of the body

  • The phenotypic expression of these mutations is seen in a lot of tissues; those directly affected by the mutation and those that are not.
  • An example is Phenylketonuria.

In this section, we will discuss the diseases based on inheritance patterns:

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