Mutations Flashcards
A mutation that involves the changing of the structure of a chromosome
Chromosome Mutation
The 5 types of chromosome mutations
- deletion
- inversion
- translocation
- nondisjunction
- duplication
Chromosome Mutation
Occurs due to breakage, where a piece of a chromosome is lost
Deletion
Chromosome Mutation
Occurs when a chromosome segment breaks off, segment flips around backwards then reattaches
Inversion
Chromosome Mutation
Occurs when a gene sequence is repeated
Duplication
Chromosome Mutation
Involves two chromosomes that are not homologous, part of one chromosome is transferred to another
Translocation
Chromosome Mutation
Occurs due to failure of chromosomes to separate during meiosis, causing a gamete to have too many or too few chromosomes
Nondisjunction
The 3 disorders associated with nondisjunction mutations
- Down Syndrome
- Turner Syndrome
- Klinefelter’s Syndrome
A genetic disorder caused by the presence of all or part of a third copy of chromosome 21, associated with growth delays, characteristic facial features, and mild to moderate intellectual disability
Down Syndrome
or
Trisomy 21
A genetic condition that affects only females due to one of the X chromosomes being missing or partially missing, causing development problems including short height, failure of ovary development, and heart defects
Turner Syndrome
A genetic disorder that affects males due to one or more X chromosome being present, causing weaker muscles, greater height, poor coordination, less body hair, and sterility
Klinefelter’s Syndrome
A mutation caused by a change in the nucleotide sequence of a gene
Gene Mutation
The 5 types of gene mutations
- point mutations
- substitutions
- insertions
- deletions
- frameshift
Gene Mutation
Changes of a single nucleotide, includes the deletion, insertion, or substitution of one nucleotide in a gene
Point Mutation
A disease caused by a point mutation that occurs in the hemoglobin gene
Sickle Cell
