Mutations, DNA, and Genes

Biology I (H)

Gene mutation

a change in the DNA sequence, and can alter the protein it produces, leading to a change in traits, disease, etc.

—>OR CAN ALSO HAVE NO EFFECT AT ALL!

The two main types of gene mutation are _____________ and _________ mutation.

point mutation, frameshift mutation

Point mutation

a change to one or more DNA bases

Missense mutation

change from one amino acid to another amino acid

—> i.e: sickle cell anemia

Nonsense mutation

a premature stop codon, and ends the protein sequence early

Silent mutation

change in a base, but it does not change AMINO ACID

Frameshift mutation

a shift in the entire “frame” by inserting or deleting a base

—> bases are not inserted or deleted in groups of three

Insertion

A base is added to the DNA sequence

Deletion

A base is removed from the DNA sequence

Gene

a segment of DNA

DNA is made up of chemical bases organized into two groups the ______________ and the _______________.

pyrimidines, purines

Pyrimidines

Cytosine, Uracil, and Thymine

• CUT is the acronym

Purine

Adenine, Guanine

—> Tip! Think shorter name with less amount of bases

Deoxyribonucleic Acid

another name for DNA

DNA is made out of __________, ____________, and _________.

sugar (deoxyribose), phosphate, chemical base (A, T, C, G)

—> DNA does not have Uracil only RNA contains Uracil swaps with Thymine

A always pairs with _____ .

T

C always pairs with _____.

G

Chromosomes

coiled structure of DNA and proteins (AKA histones) that contain genetic material and its located in the nucleus of cell

Genomes

completed set set of genetic instructions (DNA), meaning its already been organized and maintained

Nucleus

the organelle structure that houses DNA and also known has the brain of the cell because it contains all the instructions for the cell

• also protects the nucleolus

How many chromosomes do humans have?

46 chromosomes in ALL

Sickle Cell Anemia

blood disorder passed down to offspring where red blood cells become crescent shaped