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Molecular Genetics > Polymorphisms > Flashcards

Flashcards in Polymorphisms Deck (15)
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1
Q

STR

A

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

2
Q

SSR

A

Simple sequence repeats = microsatellites

3
Q

VNTR

A

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

4
Q

RFLP

A

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

5
Q

CNV

A

Copy number variant copies of a large stretch of DNA sequence

6
Q

SNP

A

Sequence change eg A to G

7
Q

Repetitive DNA is often polymorphic

A

Two types highly repetitive DNA

And Middle repetitive DNA

8
Q

Highly repetitive DNA (satellite DNA) is found:

A

In long tandem (end to end) strings or arrays

Near telomeres and centromeres

9
Q

Example of satellite DNA

A

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!

10
Q

Middle repetitive DNA1 includes

A
Mobile DNA elements
Insertion elements
Transposons = DNA based (DNA elements)
Retrotransposons = RNA intermediate
Extremely common in the human genome
Lines sines
11
Q

Retrovirus-like retrotransposons [LTRs]

A

Endonuclease

Reverse transcriptase

12
Q

Non viral retrotransposons [sines and lines]

A

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

13
Q

Middle repetitive DNA 2:

A

Tandem repeats
Minisatellites
Microsatellites

14
Q

Applications of polymorphisms

A
RFLPs
Forensic sample identification
Biodiversity
Good quality
Mapping of disease genes
Ancestry/archaeology
15
Q

RFLPs:

A

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