Tutorial Week 2

Question 1

What is the translation start site

Answer 1

ATG

Question 2

What is the translational stop site

Answer 2

TAG TGA TAA

Question 3

What do enhancers and silencers do

Answer 3

Enhancers upregualte expression while silenceres downregulate expression could be found within a gene

Question 4

What is a cis regulatory elements

Answer 4

A region of DNA that modulates the expression of genes that are located on the same DNA sequence enhanced and silencers

Question 5

What are trans regulatory elements

Answer 5

A gene that may modify the expression of distant geens ( genes encoding transcription factors are trans regulatory elements)

Question 6

What do insulators do

Where are they found

Answer 6

Inhibit the effects of enhancers and silencers by recruiting proteins that alter structure of DNA in that region most insulators seem to inhibit enhancer elements are are found in between the ehnacner and promoter

Question 7

What does alternative splicing do

Answer 7

Creates many protiens from one transctiional unit

Question 8

What are the two types of missense mutations

Answer 8

non conservative that it is not similar r group where conserative is a similar amino acid being repleaced

Question 9

What are the conserved sites that if a mutation occurs can interfer with proper splicing

Answer 9

GU which is 5 prime donor site
Branch point A
and 3 prime aceptor site is AG

Question 10

What is giemsa stain

Answer 10

Purple stain used to produce G banding in karyotypes

Question 11

What are the darker and lighter regions

Answer 11

Darker regions are more condensed hetrochromatic typically gene poor egions
Lighter refions are less condense euchromatic typically gene rich regions

Question 12

How is the structured of human genomes

Answer 12

Numbered largest to smallest X/Y are sex chromsomes karyotypes are made from cells that are dividing metaphase

Question 13

How would you show trisomy 21

Answer 13

47 ,XY,+21

Question 14

How would you show a triploidy

Answer 14

69, XXX most often caused by fertilization of an egg by two sperm

Question 15

What is edwards syndrome

Answer 15

48,XY,+18

Question 16

What chromsome is not in humans

Answer 16

Telocentric

Question 17

What are the three types of chromonse in humans

Answer 17

Metacentric
Sucmetacentric
Acrocentric

Question 18

What arm is on top

Answer 18

P is the short arm and is on top and long arm is q

Question 19

What increases higher location specificity

Answer 19

Increasing band resoultion

Question 20

How would you show a duplication

Answer 20

46,xx,dup(21)(p11p13)

Question 21

How do you show a deletion

Answer 21

46,xy,del(1)(p11p13)

Question 22

What are interstital chromsonal abnormalties

Answer 22

Do no affect chromsome ends

Question 23

What do you do if it effects the end of the chromsome

Answer 23

You dont have to provide a section you can just say it affects (q31) because it goes to the end

Question 24

how do you show an inversion

Answer 24

46,XX,inv(4)(p21p23)

Question 25

How do you show an insertion

Answer 25

46,XX,ins (9)(q23p12p13) the q23 is the insertion point you have to make sure to include that

Question 26

How do you show a translocation

Answer 26

46,XX,t(1;3)(q23;q31) You have to say the two chromsones its in between and what each part is from each chromsone