Genetics reviewer

DNA Replication ( NUCLEUS) (Interphase)

1st Helicase – Unzipping enzyme
2nd Primase – The initializer, makes primer (made of RNA)
3rd DNA Polymerase – The builder
4th Ligase – The gluer
Mutations - Changes in DNA sequence can occur due to environmental factors and mistakes during
replication.
Point mutation - occurs in a genome when a single base pair is added, deleted, or changed.
(A) Silent - A genetic change that does not affect the amino acid sequence. A specific type of neutral
mutation.
(B) Nonsense - stop mutation, is a type of DNA change that results in the premature termination of
protein translation. Functions improperly or not at all.
(C) Missense - substitutes one amino acid for another in a gene's protein due to a change in one DNA
base pair.
Frameshift mutation - a genetic mutation caused by a deletion or insertion in a DNA sequence that
shifts the way the sequence is read.
(A) Inversion - a section of DNA breaks away and reattaches to the chromosome in a reversed order.
(B) Insertion - one or more additional nucleotides are added, frequently causing a frameshift.
(C) Deletion - one or more nucleotides may be “skipped” or removed, which usually causes a frameshift.
Diseases
(Cystic Fibrosis) is a genetic disorder that causes thick mucus to form and clog organs, leading to
breathing problems, malnutrition, poor growth, and chronic lung disease.
(Haemochromatosis) causes the body to absorb too much iron, leading to organ damage.
(Sickle cell anemia) is one of a group of inherited disorders known as sickle cell disease. affects the
shape of red blood cells, which carry oxygen to all parts of the body.
Benefits
- result in new versions of proteins and help the organisms to adapt to changes in the environment. Such
mutations lead to evolution.
- Mutations in many bacteria result in antibiotic-resistant strains of bacteria that can survive in the
presence of antibiotics.
- A unique mutation found in the population of Italy protects them from atherosclerosis, where fatty
materials build up in the blood vessels.
Genetic Disorders
- is caused by an abnormality in the genetic makeup of an individual.
KARYOTYPE
- an individual’s complete set of chromosomes. The term also refers to a laboratory-produced image of a
person’s chromosomes isolated from an individual cell and arranged in numerical order. A karyotype
may be used to look for abnormalities in chromosome number or structure.

Trisomy 21 – Down’s syndrome

Trisomy 13 – Patau syndrome
Trisomy 18 – Edward’s syndrome
5P Chromosome Deletion – Cri Du Chat Syndrome (crying cat)
Chromosome XXY – Klinefelter syndrome