Mutations are changes in the DNA sequence, and they can occur in various ways.
Here are
the main types:
1. Point Mutation
• Substitution: A single nucleotide base is changed to another.
• Silent mutation: No change in the protein produced.
• Missense mutation: Changes one amino acid in a protein.
• Nonsense mutation: Changes a codon to a stop codon, terminating protein
synthesis prematurely.
2. Insertion
Addition of one or more nucleotide bases into the DNA sequence. This can lead to a
frameshift mutation if not in multiples of three, altering the reading frame.
3. Deletion
Removal of one or more nucleotides. Like insertions, this can cause a frameshift mutation
and significantly alter protein function.
4. Duplication
A segment of the DNA is duplicated, leading to repeated sections in the genome, which
can result in altered gene expression.
5. Inversion
A segment of DNA is reversed within the chromosome, potentially disrupting gene
function.
6. Translocation
A segment of one chromosome breaks off and attaches to another chromosome, which
can lead to gene misregulation or fusion genes.
7. Frameshift Mutation
Caused by insertions or deletions not in multiples of three, altering the entire
downstream reading frame, which often results in nonfunctional proteins.
8. Copy Number Variation (CNV)
A region of the genome is either duplicated or deleted, affecting the number of gene
copies, which can influence gene dosage and lead to disease.
Mutations can have different consequences, from benign to disease-causing, depending
on where and how they occur in the [Link] are some examples of each type of
mutation:
1. Point Mutation (Substitution)
Sickle Cell Anemia: Caused by a missense mutation where a single nucleotide change (A to
T) leads to the substitution of valine for glutamic acid in hemoglobin.
Cystic Fibrosis: One common mutation is a point mutation that causes the substitution of
an amino acid in the CFTR protein.
2. Insertion
Huntington’s Disease: Caused by the insertion of CAG trinucleotide repeats in the HTT
gene. The greater the number of repeats, the earlier and more severe the symptoms.
Tay-Sachs Disease: A four-base insertion in the HEXA gene results in a frameshift
mutation, leading to the loss of functional enzyme production.
3. Deletion
Duchenne Muscular Dystrophy: Often caused by deletions in the dystrophin gene, which
leads to a nonfunctional protein and severe muscle degeneration.
Cri-du-Chat Syndrome: Results from a deletion on the short arm of chromosome 5,
causing intellectual disability and developmental delays.
4. Duplication
Charcot-Marie-Tooth Disease Type 1A: Caused by the duplication of a region on
chromosome 17, leading to overexpression of the PMP22 gene and peripheral nerve
damage.
5. Inversion
Hemophilia A: In some cases, caused by an inversion in the F8 gene, disrupting the
production of clotting factor VIII.
Hunter Syndrome: Caused by inversion mutations in the IDS gene.
6. Translocation
Chronic Myelogenous Leukemia (CML): Caused by a translocation between chromosomes
9 and 22, creating the Philadelphia chromosome, which produces an abnormal fusion
protein (BCR-ABL) that leads to cancer.
Burkitt Lymphoma: Often involves a translocation between chromosomes 8 and 14,
affecting the MYC gene.
7. Frameshift Mutation
Tay-Sachs Disease: A common mutation involves a four-base insertion in the HEXA
gene, leading to a frameshift that disrupts enzyme function.
Cystic Fibrosis: Some cases are caused by frameshift mutations due to deletions, which
result in nonfunctional CFTR proteins.
8. Copy Number Variation (CNV)Autism Spectrum Disorders: Some forms of autism
have been linked to CNVs, where large segments of the genome are either duplicated or
deleted, affecting brain development.
DiGeorge Syndrome: A deletion of a small region on chromosome 22 (22q11.2 deletion)
can lead to a wide range of developmental issues, including heart defects and immune
deficiencies.
