Studied by 5 people
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.
Note
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