Genetic Change Flashcards
(118 cards)
How do mutations occur?
- spontaneous mutations: e.g. naturally occurring electromagnetic radiation from sun causes cancer
- induced mutations: e.g. artificially electromagnetic radiation
where do mutations occur?
- germine mutation
- somatic mutation
what are the types of mutations?
- chromosome mutation
- chromosome abnormalities
- point mutation
- substitutions
- frame shift
What is a Mutagen?
A chemical or physical agent that interacts with DNA and causes a mutation.
Carcinogenic mutagens
causing mutations that result in cancer
What are the DNA repair mechanisms?
- base excision repair
- nucleotide excision repair
- mismatch repair
- double stranded break repair
what are the three mutagens?
- physical e.g. electromagnetic radiation
- chemical e.g. x rays
- naturally occurring e.g. virus in host cells
electromagnetic radiation
transmitted through waves e..g UV radiation acts as mutagen casing 2 adjacent base pairs to form covalent bonds causing dimer structure
5 ways mutations classified
- DNA affected (gene or chromosome)
- arise (spontaneous or induced)
- change DNA structure (point, frameshift, deletions, insertions, translocations)
- DNA functioning and proteins (nonsense, missence, neutral, silent)
point mutation
gene mutation in which a single base pair in DNA has been changed
1. substitution
2. frameshift
Subsitution mutation
1 base is change for a different base e.g. sickle cella Anaemia
1. missense: change in amino acid
2. non sense: stop codon
3. silent/neutral: sam amino acid
frameshift mutation
mutation that shifts the “reading” frame of the genetic message by inserting or deleting a nucleotide
1. insertion
2. deletion
gene mutation
a change in the base sequence of a gene
chromosomal mutation
A change in the chromosome structure, resulting in new gene combinations
chromosomal deletion
A mutation involving the loss of a section of a chromosome
chromosomal duplication
A mutation involving the duplication of a section of a chromosome
chromosomal inversion
When part of the chromosome becomes oriented in the reverse of its usual direction
chromosomal insertion
section breaks off and attaches to different chromosome which lowers genetic variation
chromosomal translocation
When part of one chromosome breaks off and attaches to another non homologous, chromosome.
Aneuploidy
Abnormal number of chromosomes.
example of aneuploidy
Down syndrome (trisomy 21) extra copy of chromosome 21
karyotype chromosomal diagnosis
describes abnormality and if there is a disability
somatic and germline mutations
- somatic: most mutations not inherited
- germline: in gonads producing gametes and mutation inherited
effect of somatic mutation
- no effect
- cell dies
- becomes cancerous