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Module 4: Gene Mutation

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What are the types of gene mutations?

• A mutation, which may arise during replication and/or recombination, is a permanent change in
the nucleotide sequence of DNA. Damaged DNA can be mutated either by substitution, deletion,
or insertion of base pairs.
• POINT MUTATION
• A point mutation or a single base modification is a type of mutation that causes a single nucleotide base
substitution, insertion, or deletion of the genetic material, DNA or RNA.
• The term frameshift mutation indicates the addition or deletion of a base pair.
• A point mutant is an individual that is affected by a point mutation.
• Repeat induced point mutations are recurring point mutations.
• CHROMOSOMAL MUTATION
• A mutation involving a long segment of DNA. These mutations can involve deletions, insertions, or inversions
of sections of DNA. In some cases, deleted sections may attach to other chromosomes, disrupting both the
chromosomes that loses the DNA and the one that gains it. Also refereed to as a chromosomal arrangement.
• COPY NUMBER VARIATION
• CNVs is a relatively new field in genomics and it is defined as a phenomenon in which sections of the genome
are repeated and the number of repeats in the genome varies between individuals in the human population.
• SOMATIC MUTATION
• Genetic alteration acquired by a cell that can be passed to the progeny of the mutated cell in the course of
cell division. Somatic mutations differ from germ line mutations, which are inherited genetic alterations that
occur in the germ cells.

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