DNA Mutations and Repair

Which DNA repair technique would you use to make a specific mutation?
• NHEJ
• HR
• NER
• MMR

You have a mutation that causes 20% lethality in embryos. If you make a mutation
at another site in the genome, the mutation rises to 50%. What type of mutation is this
second mutation?

A somatic mutation would affect every cell of the body

Which of the following terms describes a change made to an amino acid?

Point Mutation

Alters one single base. Purine > Purine = Transition. Purine > Pyrimidines = Transversion, THREE TYPES

Indel

Type of point mutation, Small INcertions or DELetions in the sequence. changes the ORF.

Substitution

Type of point mutation where the incorrect base replaces the correct one.

Silent mutation

change in base and codon but no change in Amino Acid Produced

Nonsense

Premature stop codon

Missense

Change in base and codon with incorrect Amino Acid production

FrameShift

Occurs with INDEL and it chnages the ORF

Gain of Function

a type of protien function change where there is new or more function. TWO TYPES

Loss of Function

a type of protein function change where there is complete or partial loss of fucntion, TWO TYPES

Hypomorph

Loss of protien functon that is only partial

Null,Amorth

loss of protein function that is complete.

Splice Site Mutation

disrupts the removal of introns during mRNA processing

Dominant Negative

Type of change to protein function that affects even normal copies not only initally mutated ones.

Neomorph

type of gain of function that creates new protien functions

HyperMorph

Type of Gain of protien function that has more function

Antimorph

Type of dominant negative protien function change

Somatic Mutation

Mutations that are inherented from cell to cell

Germine mutation

mutations that are inherented generationally

Nucleotide Repeat Expansions

Type of gene mutation that causes nulceotides to repeat due to errors in DNA replication

Supressor Mutations

type of muation interaction that supresses another mutation, POS or NEG

Enhancer Mutations

ype of muation interaction that enhances another mutation

Depurineation

type of spontaneous muation where loss of purine base is lost and replaced with random base

Deamination of Cytosine

type of spontaneous mutation where cytosine loses its NH2 and become uracil

Trinucleotide Repeat Expansions

type of spontaneous mutations where DNA pol. falls off and causes a hair pin to form.

Huntingtons Disease

Result of Trinucleotide Repeat Expansions where there is too many CAG repeats. Causes protien build up in brain

Fragil X Syndrome

Result of Trinucleotide Repeat Expansions where there is too many CGG repeats. causes intellectual disabilities

Genetic Anticipation

disorders that worsen as they are passed from Gen to Gen

Mutagens

agents that alter the structure of DNA in some way

Base Mondifications

Type of Induced Muations that alter bases

Intercalating Agents

type of induced mutation that alters BETWEEN bases and causes helix issues

Base Analogs

type of induced mutation that looks like a purine or pyramid bases but isnt but binds like one anyways

Direct repair

type of DNA repair where dna is automatically repaired using enzymes

NER disorder

Caused by mutations in the DNA repair system causes sun sensativity

Mismatch Repair System

type of DNA repair where repairs the proofreading fails of DNA polymerase. only repairs new and unmethylated strands.

Homologous Recombination Repair

type of DNA repair where the cell sister chromatids as tempalates to fix double strand break. Can only occur in S and G2 phase.

Non-Homologous End joining

type of DNA repair where the break is closed by “chewing” the ends a little and rejoined them