Wondershare EdrawMind
MindMap Gallery Types and consequences of genetic mutations
- 28
- 1
- 1
Types and consequences of genetic mutations
This is a mind map about Types and consequences of genetic mutations,Main content: Consequences of genetic mutations,Types of genetic mutations.
Edited at 2025-01-20 08:12:07
- Recommended to you
- Outline
Types and consequences of genetic mutations
Types of genetic mutations
Point mutations
Substitution
Missense mutation
Change in one amino acid
Can alter protein function
Nonsense mutation
Creates a premature stop codon
Leads to a truncated protein
Insertion
Addition of one or more nucleotides
Causes frameshift
Alters the reading frame of the genetic code
Deletion
Removal of one or more nucleotides
Causes frameshift
Alters the reading frame of the genetic code
Chromosomal mutations
Deletion
Loss of a chromosomal segment
Can lead to loss of genes
May cause genetic disorders
Duplication
Copying of a chromosomal segment
Leads to extra genetic material
Can cause gene dosage effects
Inversion
Reversal of a chromosomal segment
Changes the orientation of genes
May disrupt gene function
Translocation
Transfer of a chromosomal segment to another chromosome
Can disrupt gene regulation
May lead to fusion genes
Frameshift mutations
Insertions or deletions of nucleotides not in multiples of three
Changes the reading frame of the genetic code
Typically results in nonfunctional proteins
Consequences of genetic mutations
Silent mutations
Do not change the amino acid sequence
Have no effect on protein function
May be unnoticed in the phenotype
Missense mutations
Change a single amino acid in a protein
May alter protein function
Can lead to disease if critical for protein activity
Nonsense mutations
Create a premature stop codon
Lead to a shortened, nonfunctional protein
Often result in loss of function diseases
Gain-of-function mutations
Confer new or enhanced function to a protein
Can lead to unregulated cell growth (as in cancer)
May cause dominant diseases
Loss-of-function mutations
Reduce or eliminate protein function
Can lead to recessive diseases
May cause enzyme deficiencies or structural problems
Dominant vs. recessive mutations
Dominant mutations
Affect heterozygous individuals
Only one mutated allele is needed for expression
Examples include Huntington's disease
Recessive mutations
Affect homozygous individuals
Both alleles must be mutated for expression
Examples include cystic fibrosis
Genetic diseases and disorders
Single-gene disorders
Caused by mutations in a single gene
Examples include sickle cell anemia, Duchenne muscular dystrophy
Complex disorders
Result from multiple genetic and environmental factors
Examples include heart disease, diabetes, and some cancers
Cancer
Caused by mutations in genes that regulate cell growth
Include oncogenes and tumor suppressor genes
Mutations can be inherited or acquired during life
Evolutionary consequences
Mutations are the source of genetic variation
Drive the process of natural selection
Lead to adaptation and speciation over time