MUTATION
This type of mutation changes one base pair in the DNA sequence, resulting in a different amino acid being produced.
Original: GAA - Glutamate
Mutated: GUA - Valine
(different amino acid)
missense mutation
- It still makes a protein, but not the same one.
- Missense = Mistaken sense = Wrong amino acid.
A missense mutation in the gene for hemoglobin causes this disease, where red blood cells become crescent-shaped.
sickle cell anemia
The scientist known as the “Father of Genetics.”
Gregor Mendel
Change that occurs in our DNA sequence, either due to mistakes when the DNA is copied or as a result of environmental factors such as UV light and cigarette smoke.
Small spelling mistakes that affect only one or a few letters in our DNA code.
Point Mutation
This mutation has no effect on the amino acid sequence because the new codon still codes for the same amino acid.
Original: GAA - Glutamate
Mutated: GAG - Glutamate
silent mutation
- The DNA changes, but the amino acid stays the same.
This chromosomal mutation results in an extra copy of chromosome 21.
Down syndrome
A permanent change in the DNA sequence that makes up a gene
Gene Mutation
It occurs at the chromosome level resulting in gene deletion, duplication or arrangement that may occur during the cell cycle and meiosis.
Chromosomal Mutation
One nucleotide is replaced with another
Substitution
A mutation that changes a codon into a stop codon, ending translation too early.
Original: UAU - Tyrosine
Mutated: UAA - STOP
nonsense mutation
Physical or chemical agents, such as radiation or cigarette smoke, that cause mutations.
mutagens
It happens when a base is deleted from the nitrogen base sequence.
Deletion
It occurs when a part of a chromosome is copied (duplicated) too many times.
Duplication
When a segment of a chromosome is reversed end to end.
Inversion
This type of mutation occurs when a single nucleotide is deleted or inserted, shifting the entire reading frame of the genetic message.
Normal: ICE CAN RUN
Mutated (delete C): IEC ANR UN
frameshift mutation
Caused by deletion of three DNA bases leading to thick mucus build-up.
Cystic fibrosis
The addition of one or more nucleotide base pairs into a DNA sequence.
Insertion
The segments of two chromosomes are exchanged
Translocation
An autosomal recessive disorder in which the formation of melanin is reduced or absent in skin, hair, and eyes due to the lack of activity of tyrosinase.
Albinism
This mutation happens when a part of a chromosome breaks off and attaches to a different chromosome.
translocation
In translocation, a chromosome travels to another location.
A nonsense mutation in a gene causes muscles to weaken over time, leading to this disorder common in boys.
D______ M___________ D____________
Duchenne muscular dystrophy
It is related with slight retardation of cognitive ability. It is also characterized with impairment of physical growth, body and facial features.
Down syndrome or Trisomy 21
This disorder affects females who are missing one X chromosome and often results in short height and infertility.
T________ S____________
Turner Syndrome
A mutation that occurs in reproductive cells and can be passed to offspring.
G__________ M___________
Germline Mutation