Scribd
Upload
9 views2 pages

Types and Effects of DNA Mutations

Mutation is defined as a change in the nucleotide sequence of DNA, classified into point mutations (substitution, deletion, insertion) and frame shift mutations. The effects of mutations can range from silent mutations to lethal or carcinogenic mutations, with various causes including replication errors and exposure to mutagens. Understanding mutations is crucial for studying genetic disorders and their manifestations.

Uploaded by

raiandsappy
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as DOCX, PDF, TXT or read online on Scribd
9 views2 pages

Types and Effects of DNA Mutations

Mutation is defined as a change in the nucleotide sequence of DNA, classified into point mutations (substitution, deletion, insertion) and frame shift mutations. The effects of mutations can range from silent mutations to lethal or carcinogenic mutations, with various causes including replication errors and exposure to mutagens. Understanding mutations is crucial for studying genetic disorders and their manifestations.

Uploaded by

raiandsappy
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as DOCX, PDF, TXT or read online on Scribd

MUTATION

DEFIINETION:
A Change in nucleotide sequence of DNA

CLASSIFICATION:
[Link] MUTATION (Change in a single nucleotide)

(i) SUBSTITUTION :
1. Transition
Replacement of (A TO G) one purine by another purine or one
pyrimidine by another (T to C) pyrimidine
[Link]
Replacement of purine by pyrimidine (A to C) OR pyrimidine by purine
(T to G)
(ii)DELETION:
[Link] gene deletion (eg: Alpha – thalassemia haemophilia)
[Link] of codon (cystic fibrosis)
[Link] of single base (leads to frame shift effects)
(iii) INSERTION:
*single base addition
* Trinucleotide expansion (Huntington's chorea- CAG repeats)
* Duplications (Duchene Muscular Dystrophy-DMD gene is duplicated)
[Link] SHIFT MUTATION
• one or more base pairs are inserted in or deleted from the DNA
• Results in altered reading frame of the mRNA
• Machinery does not recognize the altered sequence and the protein
synthesis continues
• Can either be due to deletion or insertion
• A-T-C-A-C-T-G-A-T-A-C
• A-T-A-C-A-C-T-G-A-T-A-C

EFFECTS OF MUTATION

• Silent Mutation (point mutation change the codon for one amino acid to synonym
for same amino acid eg : CUA is mutated to CUC )

• Mis-sense but acceptable (NO alteration in protein function eg: Hb Sydney)


• Mis-sense but partially acceptable (Amino acid substitution of the protein eg:
sickle cell anemia)

• Mis-sense unacceptable (Nonfunctional protein eg: HbM )


• Non-sense Mutation (Normal codon to terminator codon eg : Thalassemia )

MANIFESTATIONS OF MUTATION

• Lethal Mutations
• Silent Mutation
• Beneficial Mutation
• Carcinogenic Mutations

CAUSES OF MUTATIONS :

• Error in replication
• Error due to recombination events
• Spontaneous change in DNA eg: Deamination of (C to U)
• Mutagens: x-ray, UV –rays

You might also like