Mutations and Genetic disorders

Question 1

What are mutations?

Answer 1

Random changes to chromosomes, genes or DNA

Question 2

what’s the genome?

Answer 2

it is the organisms entire heredity information (everything that makes you)

Question 3

what’s bioinformatics?

Answer 3

computer and statistical analysis used to compare DNA sequence data

Question 4

how can computers identify base sequences?

Answer 4

By looking for sequences similar to known genes

Question 5

What are the single gene mutations?

Answer 5

Substitution, insertion, deletion

Question 6

What single gene mutations are point mutation and what’s frameshift mutation?

Answer 6

Point mutation is substitution and frameshift mutation is insertion and deletion

Question 7

What do each of the single gene mutations do?

Answer 7

Substitution- replace one of the DNA nucleotides

Insertion- adds a DNA nucleotide in the sequence

Deletion- Removes a DNA nucleotide from the sequence

Question 8

What are the different types of substitutions?

Answer 8

Missense, nonsense and splice-site

Question 9

What is this an example of: C A T C A T C A T?

Answer 9

DNA bases

Question 10

Picture a start and stop codon?

Roughly

Answer 10

AUGAUCUAA

MET-ILE-SER
codon. Stop codon

Question 11

What’s missense?

Picture the example

Answer 11

A type of substitution where one amino acid is replaced. A single nucleotide is substituted which results in amino acid codon being replaced with another.

Question 12

What is nonsense?

Roughly picture it

Answer 12

Single nucleotide substitution which results in amino acid codon being replaced with premature stop codon (result in shorter protein)

Question 13

What is splice-site?

Answer 13

Results in some introns and or exons being retained in mature transcript. Splicing is a controlled by specific nucleotide sequences at locations called splice sites (if mutation happens at one, intron may be kept in error) and opposite happens when site becomes splicing at wrong points

Question 14

What are the frameshift mutations?

Answer 14

Insertion and deletion

Question 15

What happens during insertion and what does this do?

Answer 15

A nucleotide is inserted which shifts pre-existing nucleotides, altering DNA, RNA and amino acid sequences (protein structure altered)

Question 16

In insertion and deletion, what is always altered?

Answer 16

DNA, RNA and amino acid sequence and protein structure

Question 17

What does deletion do and what does this cause?

Answer 17

Removes one or more nucleotides from sequence, shifting DNA base sequence and alters DNA, RNA, amino acid and protein structure

Question 18

What’s the difference between point mutation and frameshift mutation?

Answer 18

Point mutation only affects one amino acid (substitution) where as frameshift has a bigger effect on other amino acids (insertion and deletion) and there is major structure effect on protein/ amino acid)

Question 19

What’s the difference between single gene mutations and chromosome mutations?

Answer 19

Single gene mutations only affect sequence of DNA nucleotides. Chromosome is alerting at nucleotide level (genes are changed) (like a big level up from)

Question 20

What is all the chromosome mutations?

Answer 20

Inversion, translocation, duplication and deletion

Question 21

What’s deletion (chromosome mutation)?

Answer 21

A section of the chromosome is removed

Question 22

What is translocation?

Answer 22

A section of a chromosome is added to another chromosome (not it’s homologous partner)

Question 23

What is inversion?

Answer 23

When part of a chromosome if reversed

Question 24

What is duplication in terms of chromosome mutations?

Answer 24

Section of chromosome is added to homologous partner and a duplicated gene may mutate and evolve to a new function (can be very bad)