Mutation, Variation and Genome organisation

Question 1

What is population genetics?

Answer 1

The study of genetic variation in population

Question 2

How is population used?

Answer 2

To understand:
how natural selection operates
genetic disease 
human origins and evolution
help conservation biology

Question 3

Who came up with the first theory of inheritance?

Answer 3

Jean baptiste de lamark, inheritance of acquired characters

Question 4

What are mutations?

Answer 4

The failure to store genetic information faithfully, can affect whole chromosome or single genes, spontaneous or induced, harmful neutral or beneficial.

Question 5

What is the source of all genetic variation?

Answer 5

Mutation

Question 6

What are the causes of induced mutation?

Answer 6

UV, X rays,

Question 7

What is a mutagen?

Answer 7

Anything that increases chemical reactivity in the cell

Question 8

How many pairs of chromosomes in humans?

Answer 8

23, Diploid

Question 9

What are the different types of chromosome variation?

Answer 9

Polyploidy
Aneuploidy
Translocations
Deletions
Inversions

Question 10

What is Polyploidy?

Answer 10

Have more than two sets of chromosomes, for example by dispermy. Results in 3 complete sets of chromosomes. Always lethal in humans. More common in plants

Question 11

What is a monoploid?

Answer 11

One set of chromosomes

Question 12

What is aneuploidy?

Answer 12

When one set of chromosomes is incomplete, e.g. one missing or extra is present

Question 13

What is nullisomy in autosomes?

Answer 13

Both members of the pair are missing - Lethal

Question 14

What is monosomy in autosomes?

Answer 14

One member of the pair is missing - lethal

Question 15

What is trisomy in autosomes?

Answer 15

One extra chromosome - usually lethal

Question 16

What is an example of a condition caused by trisomy?

Answer 16

Does syndrome , extra chromosome 21

Question 17

What is the affect of lacking a somatic chromosome?

Answer 17

45X -Turners syndrome, infertile

45Y - Inviable

Question 18

What is the affect of gaining an extra somatic chromosome?

Answer 18

Minor effects

Question 19

What are translocations?

Answer 19

Exchange of points between non homologus chromosomes. Carriers are normal, but offspring can have the wrong number of copies of each chromosomes, usually lethal

Question 20

What are deletions?

Answer 20

Part of chromosome is missing, only one copy of the gene in that region, severity depends on size of region

Question 21

What are Inversions?

Answer 21

Often have no effect on phenotype, balanced out, may cause problem in meiosis

Question 22

How large is the human genome?

Answer 22

3 Billon bp

Question 23

What is the genetic code?

Answer 23

3 nucleotides = codon, codon =amino acid

Question 24

What percentage of genes in human genome code for proteins?

Answer 24

1.5%

Question 25

What are silent substitutions?

Answer 25

doesn't change encoded amino acid, synonymous

Question 26

What are replacement substitutions?

Answer 26

Code for a different amino acid - non-synonymous

Question 27

What effect do insertions and deletions have?

Answer 27

Different protein encoded due to shift in open reading frame

Question 28

What are SNPs?

Answer 28

Single nucleotide Polymorphs - change in the single nucleotide of the sequence

Question 29

What is satellite DNA?

Answer 29

Consists of very large arrays of tenderly repeating non coding DNA, main component of functional centrosomes

Question 30

What are microsatellites and how are they used?

Answer 30

Smaller sequences, Have a higer mutation rate, used as genetic markers used in finding genetic disease, conservation genetics, evolutionary genetics and agriculture

Question 31

Are Somatic mutations Heritable?

Answer 31

No

Question 32

Are Gametic mutations Heritable?

Answer 32

Yes

Question 33

What is the severity of gametic mutations?

Answer 33

Severe

Question 34

What is the severity of somatic mutations?

Answer 34

Mild

Question 35

Do gametic mutations affect all cells?

Answer 35

Yes

Question 36

Are somatic mutations affect all cells?

Answer 36

No