D1.3 mutation and gene editing

Mutations

A change in the base sequence of a gene

Point Mutations

one base pair is changed

Single Nucleotide Polymorphisms (SNPs)

the result of a point mutation

Locus

location (position) of a gene on a chromosome

Silent

Amino acid isn’t changed OR mutation in noncoding region

Missense

Amino acid changed

Nonsense

Early stop codon

Sickle Cell Disease

Second codon of gene changes from GAG to GTG, coding for valine instead of glutamic acid

mutation hotspots

locations that are more prone to mutation

Satellite DNA

in centromere region

CpG sites

location where C is followed by G

Negative change

sickle cell blood

Positive

lactose tolerance

Neutral

hair color in humans

germ cells

The cells that pass genetic information to offspring

somatic cells

body cells

Conserved sequences

show minimal mutation over time

Highly conserved sequences

have no or almost no changes

Genomics

gene sequencing

bioinformatics

computer analysis of enormous data sets

Gene Knockout

occurs when a gene is mutated and made useless

Model organisms

they are used due to quick reproduction, similarity to other organisms, and lack of

ethical concerns

CRISPR-Cas9

a gene editing technique developed in 2012