Mutations

What are mutations?

changes made up of an organisms genetic material

Point Mutation

changes one base in the DNA sequence

Translocation

occurs when one of the chromosomes break and attach itself to another.

Insertion

an extra base pair is added to a sequence of bases

beta thalassemia

it is based disorder that reduces the production of hemoglobin.

deletion

an extra base pair is deleted in a sequence.

Cystic Fibrosis

hereditary disease that affects the lungs and digestive system

Substitution

bases are swapped for different ones.

Genetic disorders

caused by an abnormality in the genetic makeup of an individual

chromosome

it is a long DNA molecule

Karyotype

the appearance of the chromosomal makeup of a somatic cell in an individual or species

Criduchat syndrome

also known as 5-p syndrome, it is known a chromosomal condition that results when a piece of chromosomes 5 is missing.

Down Syndrome

have a intellectual disability, a characteristics, facial appearance, and weak muscle tone (hypotonia) in infancy.

Edward Syndrome

known as trisomy 18, it is a chromosomal condition with abnormalities in many parts of the body.

Patau Syndrome

known as trisomy 13, and it is the extra genetic material disrupts normal development, causing the multiple and complex organ defect.

Frameshift

when a based is added or removed, the entire codon sequence following the mutation changes.