Sources of Variation and Genetic Diseases (slight touch on Bio Tech)

Question 1

Population

Answer 1

A group of organisms of the same species living together in a particular place at a particular time.

Question 2

Gene Pool

Answer 2

The sum of all the alleles in a given population

Question 3

Allele Frequency

Answer 3

How often each allele of a gene occurs in the gene pool for that population

Question 4

Species

Answer 4

A group of individuals sharing many of the same characteristics, that are able to breed and produce fertile offspring in natural conditions

Question 5

Allele

Answer 5

An alternative form of a gene

Question 6

Gene

Answer 6

A section of DNA that codes proteins (producing specific phenotypes)

Question 7

Mutation

Answer 7

A change in a gene or a chromosome leading to new characteristics in an organism.

Question 8

Mutant

Answer 8

An organism with a characteristic resulting from a mutation

Question 9

Gene Mutation

Answer 9

An alteration in a single gene

Addition, Deletion and Substitution

Question 10

Chromosomal Mutations

Answer 10

A change to the structure and/or number of chromosomes in an organism
(Translocation, Inversion, Deletion, Duplication, Non-Disjunction)

Question 11

Germ-line Mutations

Answer 11

Affect the gametes. The person themselves may not show symptoms but can past the trait through generations

Question 12

Somatic Mutations

Answer 12

Affect normal body cells and are not inherited

Question 13

Mutagens

Answer 13

An environmental agent that increases the rate of mutation
(mustard gas, formaldehyde, sulfur dioxide, some anti-biotics, ionising radiation (X-ray, cosmetic rays, radiation from radioactive waste, fallout from atomic/nuclear explosions))

Question 14

Mutation can be classified by:

Answer 14

Cause (induced or spontaneous)
Heritability (somatic or germline)
Effect (missence, nonsence, neutral, silent)

Question 15

Missense Mutations

Answer 15

cause a change in the amino acid and therefore in the protein produced

Question 16

Nonsense Mutations

Answer 16

change the base sequence to the code to STOP. This means that the synthesis of the protein will stop, and so a shorter protein is produced that is unlikely to be able to fulfil its function.

Question 17

Neutral Mutation

Answer 17

cause a change in an amino acid; however, the amino acid is of the same type and therefore does not change the structure or function of the actual protein

Question 18

Silent Mutation

Answer 18

do not cause any change in the amino acid, and therefore in the protein produced.