1.5 Human Genomics

Question 1

What is the genome of an organism?

Answer 1

The complete set of genetic material (DNA) it possesses

Question 2

What has advances in faster and cheaper computer processing made possible?

Answer 2

To determine the sequence of DNA bases for entire genomes

Question 3

What is human genomics ?

Answer 3

The study of the human genome

Question 4

What was the human genome project an effort of ?

Answer 4

The international scientific community to sequence the entire human genome using the most advanced technology

Question 5

What are the years of the human genome project ?

Answer 5

1990-2001

Question 6

Why did the project finish 4 years ahead of schedule?

Answer 6

Due to advanced in technology and understanding

Question 7

How many base pairs are there in every human cells?

Answer 7

Around 3 billion

Question 8

How many genes are there around in each individual?

Answer 8

20-30000

Question 9

How many genes are disease coding genes ?

Answer 9

300

Question 10

How many genes are protein coding genes ?

Answer 10

4000

Question 11

How many proteins do these genes code for?

Answer 11

2 million

Question 12

What percentage of our genome codes for protein ?

Answer 12

1-2%

Question 13

What percentage of our genome help control translation?

Answer 13

24%

Question 14

What is bioinformatics ?

Answer 14

Name given to the field where biological, statistical and computer modelling are used to analyse the sequence of bases in DNA and the sequence of amino acids in proteins

Question 15

By sequencing genomes what is possible ?

Answer 15

To pin point known sequences within it

Question 16

What is systematics ?

Answer 16

The field which compares genomes (particularly the human genome) to the genomes of other species

Question 17

What can systematics be defined as?

Answer 17

The study of a group of living things with respect to their diversity, relatedness and classification

Question 18

What does systematics allow scientists to develop?

Answer 18

An evolutionary pathway and discover species which may have shared a common ancestor

Question 19

To sequence DNA what is required ?

Answer 19

Large volumes of DNA fragments are required

Question 20

What can many copies of a specific segment of DNA can be produced using technique called?

Answer 20

Polymerase chain reaction

Question 21

What does PCR allow us to do?

Answer 21

Amplify a DNA fragment to produce vast quantities to work with quickly and efficiently

Question 22

In Oder to amplify DNA what must be present ?

Answer 22

Many of four free nucleotides of DNA
Primers
Heat-tolerant DNA polymerase (Taq polymerase)
Template DNA to be replicated

Question 23

What is stage 1 of PCR ?

Answer 23

The DNA is mixed with DNA polymerase and primers. DNA is heated to 95’c in order to separate the two strands by breaking the hydrogen bonds between the complementary bases. This is called denaturing.

Question 24

What is stage 2 of PCR ?

Answer 24

The DNA is cooled to 55’c. Cooling allows the complementary primer to bind/anneal to the specific target sequence on the DNA to be copied. This is called annealing.

Question 25

What is stage 3 of PCR ?

Answer 25

DNA heated to 72'c and then heat-tolerant DNA polymerase replicates the fragments of DNA by joining free DNA nucleotides together using the primer as a starting point

Question 26

What is a DNA probe?

Answer 26

A short, single-stranded, manmade fragment of DNA that is complementary to the specific sequence of DNA bases that are being tested

Question 27

What will happen to the probe of the target sequence is present?

Answer 27

The probe will bind to it via complementary base pairing

Question 28

How can the probe be detected ?

Answer 28

Using radioactive or more often now FLUORESCENT LABEL

Question 29

What can DNA probes be used to detect?

Answer 29

Single gene mutations

Question 30

What is a DNA probe used to detect?

Answer 30

The presence of specific DNA base sequences in a sample of DNA

Question 31

What is stage 1 when using a DNA probe to identify base sequences ?

Answer 31

DNA is denatured and cut into fragments of varying lengths

Question 32

What is stage 2 when using a DNA probe to identify base sequences ?

Answer 32

The fragments are separated according to length by gel electrophoresis

Question 33

What is stage 3 when using a DNA probe to identify base sequences ?

Answer 33

A fluorescent / radioactive probe with a known base sequence is added. If it is complementary to a base sequence on a fragment it will bind via complementary base pairing

Question 34

What is stage 4 when using a DNA probe to identify base sequences ?

Answer 34

The florescence of the probe indicates if there is a match using X-ray film

Question 35

What are DNA probes also used in ?

Answer 35

paternity cases | for solving crmes

Question 36

How can DNA probes be used to solve crimes?

Answer 36

by comparing regions of the genome with highly variable repetitive DNA sequences and matching them to a sample

Question 37

What does sequencing the genome and identifying possible mutations do?

Answer 37

predict the risk of a genetic condition and hence employ techniques to reduce the risk. the ability to screen a cell sample for a specific base sequence allows medical professionals to provide personalised medicine.

Question 38

By understanding the link between a persons genes and the relationship these genes share with certain diseases what is possible?

Answer 38

to provide treatment which is specific to the individual

Question 39

What is the name given to the approach where a patients treatment is specifically geared to them, potentially resulting in increased efficiency of treatment whilst reducing side effects?

Answer 39

pharmacogenetics

Question 40

What is the only way generalised medicine can be abolished?

Answer 40

by a deep appreciation of the relationship between specific genes, the nature of their transcription and the proteins they code for.

Question 41

Each human has an almost identical genome. However, what is within the genome which makes each human genome unique?

Answer 41

regions of highly variable numbers of repetitive sequences (VNTRs) of DNA

Question 42

What does the frequency, number and distribution of these repetitive sequences of DNA construct ?

Answer 42

an individuals DNA profile

Question 43

What is a useful tool in DNA profiling especially for crime scenes.

Answer 43

PCR