4.5 Application of reproduction and genetics

Question 1

What is genetic finger printing?

Answer 1

The unique set of bases in a persons genome

Question 2

What was the goal of the Human Genome project?

Answer 2

To provide a complete accurate sequence of DNA base parings
identifying all genes and their location

Question 3

What were the aims of the human genome project?

Answer 3

Understand diseases to improve treatment
Identify mutations
Risk assess treatments
Advance forensics
Research of evolution

Question 4

What were the main findings of the Human genome project?

Answer 4

Fewer genes than predicted
More DNA repeats than expected

Question 5

What is a stem cell?

Answer 5

An undifferentiated cell that can differentiate into different specialised cells

Question 6

What are the types of stem cells?

Answer 6

Pluripotent
Totopotent

Question 7

What are Pluripotent stem cells?

Answer 7

Adult cells that can differentiate into most types of cells

Question 8

What are totopotent stem cells?

Answer 8

Embryonic cells that can differentiate into all types of cells

Question 9

What are some ethical concerns with stem cells?

Answer 9

Embryos are alive
Possible unknown side effects
Expensive and unreliable

Question 10

What technique did the Human Genome project use?

Answer 10

Sanger sequencing

Question 11

What was the goal of the 100K Genome project?

Answer 11

To study genome variation in the UK

Question 12

What technique did the 100k Genome project use?

Answer 12

Next generation sequencing (NGS)

Question 13

What are the benefits of NGS over Sanger sequencing?

Answer 13

NGS is faster
NGS uses less resources- cheaper
Sanger can only process small samples

Question 14

What other organisms have had their genome sequenced? Why?

Answer 14

Chimpanzees- Study evolutionary relationships and conservation
Mosquito- Study cause of insecticide resistance and to control population
Plasmodium sp- develop more effective drugs for malaria

Question 15

What are the advantages of genetic sequencing?

Answer 15

Genetic screening for mutations
Early diagnosis
Embryonic screening for genetic conditions
Genetic counselling before conception

Question 16

What are STRs?

Answer 16

Short tandem repeats
regions between intron and the number of times that region repeats

Question 17

What is PCR used for?

Answer 17

Make copies of a DNA sequence

Question 18

What are the steps in PCR?

Answer 18

1. Heat DNA to 95* to separate stands
2. Cool to 50-60* so primers bind to stands (annealing)
3. Heat to 70* to allow DNA Polymerase to extend the sample
   4.Cycle repeated

Question 19

What is Gel electrophoresis used for?

Answer 19

The comparison of DNA samples

Question 20

What are the steps to Gel Electrophoresis?

Answer 20

1. DNA sample loaded into well at end of gel + Voltage is applied across the gel
2. DNA attracted to +ve electrode due to phosphate groups negative charge
3. Smaller fragments move more easily through gel pores so travel further

Question 21

What are the applications of DNA fingerprinting?

Answer 21

Paternity testing
Forensics
classification

Question 22

What are the pros of DNA fingerprinting?

Answer 22

Non invasive
Can us small samples
Exonerate false accusations

Question 23

What are the cons of DNA fingerprinting?

Answer 23

Privacy violation
Storage issues
Mishandling of data could lead to wrongful convictions

Question 23

What are the cons of DNA fingerprinting?

Answer 23

Privacy violation
Storage issues
Mishandling of data could lead to wrongful convictions

Question 24

What is southern blotting?

Answer 24

A technique used to remove DNA fragments after electrophoresis

Question 25

What are the steps of Southern blotting?

Answer 25

Nylon membrane placed in gel to 'pick up' fragments DNA probes that are luminescent complementary bind to STR by bases Film sensitive to x-rays from luminescent probes are placed on the film overnight Film is exposed to autoradiographs

Question 26

What is genetic engineering?

Answer 26

The transfer of a gene from one organism into the DNA of another

Question 27

How is DNA cut directly out of the chain?

Answer 27

Restriction endonuclease hydrolyses phosphodiester links in the backbone Cuts before and after the gene, removing it from the chromosome

Question 28

What are the issues with cutting DNA directly?

Answer 28

Genome is massive and will cut many places The base sequence must be known Will contain non-coding introns that must be edited before contact with bacteria

Question 29

What is the other enzyme that can be used to obtain a Gene sample?

Answer 29

Reverse transcriptase

Question 30

How is reverse transcriptase used?

Answer 30

Reverse transcriptase can create cDNA from an mRNA strand of a desired cell cDNA treated with DNA polymerase to make it double stranded

Question 31

How is reverse transcriptase used?

Answer 31

Reverse transcriptase can create cDNA from an mRNA strand of a desired cell cDNA treated with DNA polymerase to make it double stranded

Question 32

What are the benefits of using reverse transcriptase?

Answer 32

mRNA is abundant in cells and is already spliced from its introns

Question 33

How is recombinant DNA fromed?

Answer 33

Cutting the DNA leaves unpaired bases on the ends (sticky ends) The same restriction endonuclease is used to cut plasmids DNA ligase can join plasmids and DNA by thier sticky ends

Question 34

How is the plasmid inserted into a host cell?

Answer 34

The vector (plasmid) is taken up in a solution by the bacteria

Question 35

What are the concerns about genetic engineering using recombinant DNA?

Answer 35

Bacteria may pass on antibiotic resistant gene onto pathogenic bacteria DNA fragments could transfer or activate Oncogenes

Question 36

What is a GMO?

Answer 36

Genetically modified crops genetically engineering crops for human consumption either to convey disease resistance or a desired characteristic

Question 37

What are the advantages of GMOs?

Answer 37

Can help meet rising demand for food Superior keeping qualities

Question 38

What are the concerns regarding GMOs?

Answer 38

Cross pollination- large herbicide resistance Damage biodiversity risk to health as food

Question 39

What is gene therapy?

Answer 39

inserting functional DNA sequences into cells to counteract the effect of a defective gene

Question 40

What is Germline Therepy?

Answer 40

Genes are replaced in germline cells so changes can be inherited

Question 41

What is somatic cell therapy?

Answer 41

Alevites symptoms by replacing defective cells these will wear and be replaced by defective cells however

Question 42

What is Duchenne Muscular dystrophy?

Answer 42

A recessive sex linked disorder The dystrophin gene is mutated and does not produce dystrophin causing muscle wastage

Question 43

What drug is used to treat DMD?

Answer 43

Drisapersen

Question 44

How does drisapersen work?

Answer 44

A sequence of bases complementary to the exon with the deletion mutation act as a patch the molecular patch allows the exon to be skipped in translation and a more functional protein is formed

Question 45

Where can stem cells be found?

Answer 45

Umbilical cord Bone marrow

Question 46

What are some uses of stem cells?

Answer 46

Tissue engineering treatments for disease study of growth

Question 47

What is tissue engineering?

Answer 47

The study of the growth of new connective tissues or organs from cells and a collagenous scaffold

Question 48

What is a scaffold in tissue engineering?

Answer 48

An artificial 3D printed structure to support the growth of new tissue