Do mutations in DNA always lead to disease?

A gene variant is a permanent change in the DNA sequence that makes up a gene. This type of genetic change used to be known as a gene mutation, but because changes in DNA do not always cause disease, it is thought that gene variant is a more accurate term.

What are some possible mutations in DNA?

There are three types of DNA Mutations: base substitutions, deletions and insertions. Single base substitutions are called point mutations, recall the point mutation Glu —–> Val which causes sickle-cell disease. Point mutations are the most common type of mutation and there are two types.

What can cause DNA to mutate?

Mutations can occur during DNA replication if errors are made and not corrected in time. Mutations can also occur as the result of exposure to environmental factors such as smoking, sunlight and radiation. Often cells can recognize any potentially mutation-causing damage and repair it before it becomes a fixed mutation.

What are genetic disorders caused by mutations?

Generally, genetic disorders that are caused by mutations in single genes include cystic fibrosis, Marfan syndrome, and sickle cell anemia. These genetic disorders occur in approximately one of 200 births, and are referred to as monogenetic disorders. Cystic fibrosis is a genetic disorder that is familiar to many.

What is the most common genetic mutation?

Point mutations are the most common type of gene mutation. Also called a base-pair substitution, this type of mutation changes a single nucleotide base pair. Point mutations can be categorized into three types:

What are rare genetic disorders?

There are many different types of rare genetic diseases that can affect the development of a child. Mitochondrial disorders and cri du chat syndrome are a couple examples of rare genetic disorders. Van der Woude syndrome and Angelman syndrome are also types of rare diseases. Owing to their rarity, information about these diseases is limited.