Lecture 5 - The human genome project

Question 1

Who produced the first complete genome sequence of any organism?

Answer 1

J. Craig Venter

Question 2

How many base pairs were sequenced by J. Craig Venter?

Answer 2

1.8 million

Question 3

When was the full human genome sequenced?

Answer 3

2003

Question 4

When was all human genome set to be sequenced by?

Answer 4

Between 2008-2015

1,000 genomes project - describe all human genetic variation

Question 5

When could gene mapping be done with detecting the likelihood to diseases?

Answer 5

2012-2018

Question 6

On what date was the first draft of the complete genome sequence reported?

Answer 6

14th April 2003

Question 7

What are the goals of the human genome project?

Answer 7

1. Identify all genes
2. Determine sequences
3. Store information
4. Improve tools for analysis
5. Transfer related technologies
6. Address ethical, legal, social issues

Question 8

When identifying genes how many were expected and how many were found?

Answer 8

100,000 genes expected

20,000 found found

Only 1.5% of our genome is protein coding

Question 9

How big is the haploid human genome?

Answer 9

3,2000,000,000 bp

(3.2 x 10^9)

Question 10

What is a chromosome fusion event?

Answer 10

2 chimp chromosomes fused in man

Question 11

What are the benefits to human genome project?

Answer 11

Understanding our evolutionary history
(Human and chimpanzee genomes can be compared to identify genes that contribute to uniquely human traits)

Personalised medicine
(AI that plans how to treat people based on their genome)

To identify functions of all our genes
(Medicine can become predictive, preventative, personalised)

Question 12

When was there a genomic test for breast cancer risk?

Answer 12

2019

Question 13

What are the ethical or legal issues associated with the human genome project?

Answer 13

Could be refused employment

Could be denied employment

Question 14

What is the central dogma of molecular biology?

Answer 14

Describes the transfer of information from DNA via an RNA intermediate to protein

Information cannot be transferred back from protein or nucleic acid

Recognised DNA replication and RNA replication also transfer information

Question 15

Who published The Central Dogma and when?

Answer 15

Francis Crick

1958

Question 16

What are the 5 steps to the Central Dogma of molecular biology?

Answer 16

1. DNA replication
2. Transcription
3. Translation
4. RNA replication
5. Reverse transcription

Question 17

Who was Gregor Mendel and what was he known for?

Answer 17

Demonstrated the inheritance of certain traits follow particular patterns

Referred to the laws of Mendelian inheritance

The Father of Genetics - naturalistic framework

Question 18

Why did Mendel work with peas?

Answer 18

They produce large numbers of offspring

They have a relatively short generation time

Both self-fertilisation and cross-fertilisation are possible

Pure-breeding lines with contrasting features were available

Question 19

What was Mendel’s experiment with peas?

Answer 19

Monohybrid cross - plants with green peas crossed with those with yellow
Only yellow seeds produced (called a dominant trait)

Yellow offspring (Heterozygous) mixed with pure green
Peas were mixture of green and yellow (1:1 ratio)
Called a recessive trait

Question 20

What was the explanation to Mendel’s first law of inheritance?

Answer 20

Each individual has 2 factors for each trait, one from each parent

If the 2 factors are identical, the individual is homozygous for the trait

If the 2 factors have different information, the individual is heterozygous

Alternative forms of a factor are called allelomorphs (alleles)

Question 21

What is the Law of Segregation?

Answer 21

2 coexisting alleles of an individual for each trait segregate during gamete formation so that each gamete gets only one of the 2 alleles

Gametes fuse randomly so there is a discrete inheritance of a trait than than a blending

Question 22

What was the chromosomal theory of inheritance?

Answer 22

Sex was determined via chromosome-based inheritance

Proposed Mendel’s factors were carried on chromosomes

Question 23

How was sex-linkage detected?

Answer 23

1910, Morgan

Wild-type fruit flies have red eyes but some of his mutant flies has white eyes

Red-eyed females were crossed with white-eyed males = gave all red-eyed offspring

White-eyed females crossed with red-eyed males gave red-eyed females and white-eyed males

Results were influenced by sex of parents - concluded genes for eye colour was carried on the X chromosome