Human Genetic Variation Slides

Question 1

What is our genome?

Answer 1

A complete set of genetic instructions

Question 2

What is our genome required to do?

Answer 2

It is required to build an organism, to grow and develop, to function and react to our environment

Question 3

How is our genome packaged?

Answer 3

Chromosomes

-Packaged into coiled linear strands of DNA

Question 4

How many times is Unique DNA present in our genomes?

Answer 4

Once or a few times

Question 5

What 6 things does Unique DNA include?

Answer 5

1. Protein-coding genes
2. Pseudogenes
3. Promoters
4. Introns
5. Regulatory sequences
6. Non-coding DNA

Question 6

What are the three types of Repetitive DNA?

Answer 6

1. Highly repetitive (centromere and telomere)
2. Tandem repeats (Microsatellites, Minisatellites, rRNA genes)
3. Interspersed repeats (tRNA genes, transposons)

Question 7

Do we know the function of a large number of protein-encoding genes?

Answer 7

No, a large number is unknown

Question 8

What 3 things are non-coding regulatory regions?

Answer 8

1. Promoters
2. Introns - splice enhancers and silencers
3. 5’UTR and 3’UTRs

Question 9

Pseudogenes

Answer 9

Regions of the genome that contain defective copies of genes

Question 10

What is a Gene Family?

Answer 10

Genes that show a large amount of similarity at the nucleotide and protein level and thus, provide a similar function

Question 11

How much of the genome is repetitive DNA?

Answer 11

60%

Question 12

Satellite DNA

Answer 12

Different density

more GC content

Question 13

How can you separate Satellite DNA?

Answer 13

Centrifugation through a CsCl gradient

based on density

Question 14

Transposable elements

Answer 14

DNA elements that move around the genome

Question 15

Genetic variation

How much are we identical?

Answer 15

99.9%

Question 16

What is the difference b/w any two unrelated individuals?

Answer 16

0.1%

Question 17

What is the most common type of variation?

Answer 17

Single nucleotide variant (SNV)

or single nucleotide polymorphism (SNP)

Question 18

Insertion/ Deletion (Indels)

Answer 18

aka deletion insertion polymorphism (DIPs)

Question 19

How do insertion/deletions result?

Answer 19

Errors in DNA replication, recombination, and repair

Question 20

How do coding indels alter the reading frame?

Answer 20

If not a multiple of 3

Question 21

Simple Sequence Repeats (SSRs)

Answer 21

Microsatellite repeat, short tandem repeats

Question 22

Where are SSRs?

Answer 22

Dispersed throughout the genome

Question 23

Minisatellites

Answer 23

Larger # of nucleotides per repeat unit

Question 24

How to SSRs and STRs occur?

Answer 24

Strand slippage

Question 25

Copy number variation (CNV)

Answer 25

AKA copy number polymorphism (CNP)

Question 26

How many copies in CNV?

Answer 26

0-6

most often 1-3