Lecture 10 Flashcards
mutation: a change in a …
human mutation rate: 1 mutation in every … base pairs = ..-… new mutations per generation
influenza mutation rate: … per … nucleotides
nucleotide sequence; 30 million; 100-200; 1.5; 10,000
spontaneous mutations:
- errors in …
- errors in … and … (linked to cell division)
- transposable …
- … (can turn one … into another) /…
- …. from metabolic products
- tautomeric- changes in …
DNA replication; segregation; recombination; element mobilization; depurinate; base; deamination; toxicity; base structure
induced mutations: caused by … agents (…) or … agents-… (…, …)
chemical; carcinogens; physical; radiation; UV; ionizing
During DNA replication, sometimes mistakes can happen: the wrong … is … These mistakes are usually .., but sometimes repair mechanisms …. leading to … in the sequence of the DNA
nucleotide; inserted; repaired; fail; permanent changes
three different scenarios with mutations:
- DNA is … Nucleotide mismatch remains until this strand is … again
- DNA is repaired. Sequence is restored to …
- DNA is repaired. Sequence is changed to …
not repaired; replicated; original allele sequence; new nucleotide pair
cells have a set of processes which regularly check and repair DNA at certain … in the cell cycle, but sometimes errors escape repair or are repaired in such a way that the sequence is ..
.checkpoints; altered
(types of mutations)
coding sequence mutation: changes in …, may affect … These include:
1. point mutation: …, …, or … mutations
2. Indels-…/…: can lead to … mutation
coding sequence; protein structure; silent; missense; nonsense; insertions; deletions; frameshift
(types of mutations) regulatory mutation: change in … part of genome, may affect …
non-coding; gene expression
(types of mutations) there are … and … mutations
somatic; germline
SNPS: stands for …These are single … differences in the DNA sequences of individual members of a species; not necessarily a … mutation, but commonly studied as a covarying marker of … phenotype
single nucleotide polymorphisms; base-pair; pathological; complex disease
Differences in the DNA between different people are called ..
SNPs
there are .. possible alleles for a single SNP
two
mutations of one or a few nucleotides can affect … and ..
protein structure and function
point mutations are chemical changes in just one … of a gene. The change of a single nucleotide in the coding region of a gene can lead to the production of an …
base pair; abnormal protein
when a point mutation leads to a change in the protein it is called
missense