Mutations and DNA repair

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  • Created by: odionj01
  • Created on: 03-03-19 21:08
Define the term mutation?
A permanent change in the genetic material of an organism.
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What is the difference between a genome, gene,germline and somatic mutation?
Genome: mutation on the chromosome. Gene: mutation in a single gene sequence. Somatic: mutation in the somatic tissue and germline mutation: mutation is a germ cell (Cell that can develop into a sperm or ovum)--> pass on to offspring
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Name an example of a mutation that can have a positive effect on the carrier?
Antibiotic resistance, sickle cell anaemia
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Name and describe 5 types of chromosome mutations?
Deletions; removal of a large chromosomal region, Duplications: lead to multiple copies of a chromosomal regions, Insertions: addition of material to chromosome, Inversions: reverse orientation of chromosomal segment, Translocations: interchange
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What is an addition mutation and what happens to the new gene when this happens??
an extra base is added to DNA code, all bases flowing insertion are affected--> leads to frame shift
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What is a deletion mutation and what happens to the new gene when this happens??
A base is deleted from the DNA code. All bases following the deletion are affected. The new gene no longer makes sense.
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What is a point mutation and what happens to the new gene when this happens?
A mutation affecting one or a few nucleotides in a sequence. The new gene may still make sense.
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How are errors in DNA corrected?
homology directed repair (HDR) or non-homologous end joining (NHEJ)
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What is HDR and why is it error free?
Suppresses cancer formation, HDR maintains genomic stability by breaking broken DNA strands. It is error free because of the use of an undamaged template.
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What is NHEJ and what is its effect on gene translation?
a repair system, this inserts and deletes base pairs. This creates a frame shift. This is due to exon skipping. This disrupts gene translation.
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What kind of gene mutation causes sickle cell anaemia?
Point mutation
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What kind of gene mutation causes cystic fibrosis?
Point mutation in a CFTR gene
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What is gene therapy?
A technique used to correct defective genes that are responsible for disease development.
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In gene therapy, what kind of gene is inserted into the genome?
Wild type gene to replace a mutated gene
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Other cards in this set

Card 2

Front

What is the difference between a genome, gene,germline and somatic mutation?

Back

Genome: mutation on the chromosome. Gene: mutation in a single gene sequence. Somatic: mutation in the somatic tissue and germline mutation: mutation is a germ cell (Cell that can develop into a sperm or ovum)--> pass on to offspring

Card 3

Front

Name an example of a mutation that can have a positive effect on the carrier?

Back

Preview of the front of card 3

Card 4

Front

Name and describe 5 types of chromosome mutations?

Back

Preview of the front of card 4

Card 5

Front

What is an addition mutation and what happens to the new gene when this happens??

Back

Preview of the front of card 5
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