Polymorphisms

Question 1

STR

Answer 1

Short tandem repeat 1-8 base pairs [CAG]n

Question 2

SSR

Answer 2

Simple sequence repeats = microsatellites

Question 3

VNTR

Answer 3

Variable number tandem repeats 8 to >50 base pairs = minisatellites

Question 4

RFLP

Answer 4

Variations between individuals in DNA fragment sizes cut by specific restriction enzymes. Usually caused by mutation at cutting site

Question 5

CNV

Answer 5

Copy number variant copies of a large stretch of DNA sequence

Question 6

SNP

Answer 6

Sequence change eg A to G

Question 7

Repetitive DNA is often polymorphic

Answer 7

Two types highly repetitive DNA

And Middle repetitive DNA

Question 8

Highly repetitive DNA (satellite DNA) is found:

Answer 8

In long tandem (end to end) strings or arrays

Near telomeres and centromeres

Question 9

Example of satellite DNA

Answer 9

Alpha-satellite DNA (alphoid)
In centromere, repeats millions of bps long
Each repeat unit usually contain smaller repeats (between 4 and 32 bps)
Difficult to clone
Therefore gaps in human genome sequence today!

Question 10

Middle repetitive DNA1 includes

Answer 10

Mobile DNA elements
Insertion elements
Transposons = DNA based (DNA elements)
Retrotransposons = RNA intermediate
Extremely common in the human genome
Lines sines

Question 11

Retrovirus-like retrotransposons [LTRs]

Answer 11

Endonuclease

Reverse transcriptase

Question 12

Non viral retrotransposons [sines and lines]

Answer 12

Have no LTRs
Lines- have coding region
Sines- Alu elements in humans no coding region

Question 13

Middle repetitive DNA 2:

Answer 13

Tandem repeats
Minisatellites
Microsatellites

Question 14

Applications of polymorphisms

Answer 14

RFLPs
Forensic sample identification
Biodiversity
Good quality
Mapping of disease genes
Ancestry/archaeology

Question 15

RFLPs:

Answer 15

Bacterial enzymes primitive immune system cut specific viral DNA sequence producing sticky ends