chp 13: mutations and genetic testing

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1
What is a mutation?
change in the sequence of bases in a gene (ex: sickle cell disease codon GAG to GTG)
2
What can cause a mutation?
replication error, transposons, mutagens
3
transposons
jumping genes. pieces of DNA that move within and between chromosomes
4
mutagens
environmental influences
5
What are two types of point mutations?
silent mutation and missense mutation
6
point mutations
change in one base
7
sickle cell disease
causes single amino acid change (a missense mutation)
8
silent mutation
if the amino acid is unchanged
9
missense mutation
a change in amino acid
10
What is a frameshift mutation and why is it worse than a point mutation?
insertion or deletion of one or more nucleotide pairs, which affects all the downstream codons
11
gene therapy
insertion of genetic material into human cells for treatment of a disorder
12
ex vivo gene therapy
removal of tissue followed by insertion of a normal gene and replacement in an individual in an attempt to treat a disorder
13
in vivo gene therapy
insertion of a normal gene into a person's body in treating a genetic disorder
14
What is often used as a vector to transfer a new gene into a cell?
a virus because they are able to transport their genomes into affected hosts
15
vector
a DNA molecule that carries a specific DNA segment into a cell
16
name the types of gene editing technologies
CRISPR and RNAi
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