BIO 621 Lecture 1 Flashcards
Transversion
Single nucleotide change
Mutation
A change from known original genotype
Variant
A relationally unknown version of a similar genotype
Transition
Single nucleotide change
Indels
Insertion or deletion mutations usually causing frameshift
Inversion
Flipped/ reversed sequence
Aneuploidy
Number of chromosomes are not a multiple of an integral; opposite= Euploidy
Number of base pairs in human genome
~ 3 billion
Number of known human genes
~22,000 - 24,000
Missense conservative mutation
Creates chemically similar amino acid ( a.a.)
Type of mutations caused by transitions, transversions
Missense conservative, Missense nonconservative, synonymous, nonsense
Modification on 5’ end of mRNA
5’ methyl guanine cap
Modification on 3’ end of mRNA
3’ poly-Adenosine (poly-A) tail
Northern blot
Measures RNA size
Actions of mutations on mRNA
General viability, intron splicing and subsequent frame shift from that
Mutagens causing frameshifts (indels)
Intercalating agents (acrinides), Alkylating agents? (nitrogen mustards?)
Mutagens causing single nucleotide change
Alkylating agents, base analogs (5-BrUracil)
Mutagens causing insertions (duplications)
Transposable elements
Mutagens causing chromosomal rearrangements
X rays
amorphic mutation
loss-of-function
hypermorphic mutation
gain-of-function
