Genome Projects - 20.6

Question 1

What does the human genome consist of?

Answer 1

Over 3 billion base pairs organised into around 20000 genes.

Question 2

How long did the human genome project take?

Answer 2

13 years.

Question 3

What is bioinformatics?

Answer 3

Bioinformatics is the science of collecting and analysing complex biological data such as genetic codes. It uses computers to read, store and organise biological data at a much faster rate than previously.

Question 4

What does the technique of whole-genome shotgun (WGS) sequencing consist of?

Answer 4

This involves researchers cutting the DNA into many small, easily sequenced sections and then using computer algorithms to align overlapping segments to assemble the entire genome.

Question 5

What does SNPs stand for?

Answer 5

Single Nucleotide Polymorphisms

Question 6

What is are SNPs?

Answer 6

Single-base variations in the genome that are associated with disease and other disorders.

Question 7

What is the general definition of the proteome?

Answer 7

All the proteins produced by the genome.

Question 8

What is a more specific definition of the proteome?

Answer 8

All the proteins produced in a given type of cell (cellular proteome) or organism (complete proteome), at a given time, under specific conditions.

Question 9

What is happening as part of the Human Microbiome Project?

Answer 9

The genomes of thousands of prokaryotic and single-celled eukaryotic organisms are currently being sequenced.

Question 10

What is hoped to be gained for the Human Microbiome Project?

Answer 10

It is hoped that the information gained will help cure disease and provide knowledge of genes that can be usefully exploited.

Question 11

Why is determining the proteome of prokaryotic organisms relatively easy?

Answer 11

• The vast majority of prokaryotes have just one, circular piece of DNA that is not associated with histones.
• There are none of the non-coding portions of DNA which are typical of eukaryotic cells.

Question 12

What is an application of the knowledge of the proteomes of organisms like bacteria?

Answer 12

Identification of those proteins that act as antigens on the surfaces of human pathogens. These antigens can be used in vaccines against disease; the antigens can be manufactured and then administered to people in appropriate doses.

Question 13

What were the main aims of the human genome project?

Answer 13

• Identify all the genes in human DNA.
• Map position of genes.
• determine sequence of the chemical bases that make up DNA.
• Develop technological tools for analysis and use of the genome.
• Store DNA information in suitable databases.
• Make technological and genome information available to all interested parties.
• Address the ethical, legal and social issues that may arise from the project.

Question 14

What percent of the genome consists of genes and what is the remainder?

Answer 14

Only about 1.1% of the genome consists of genes. The remainder of the DNA appears to be ‘repetitive junk’ with no apparent genetical or biological function.

Question 15

What are errant genes?

Answer 15

Genes that have been discovered and located that may cause disease directly, or when mutated may cause disease.

Question 16

What evidence is there to prove that human origins were in Africa?

Answer 16

Most variation appeared to occur in the African gene pool and variations in the gene pools of other races appeared to be ‘subsets’ of the African gene pool. This perhaps supports the theory that human origins were in Africa.

Question 17

What are the applications of the findings of the human genome project in terms of medicine?

Answer 17

• Diagnosis - detect mutant or errant genes.
• Prediction - by detecting errant genes in a person’s genome it may be possible to predict the onset of disease in later life.
• Treatment - the HGP has identified many thousands of receptors sites which could now be accurately targeted by drugs.