Lecture 3 - Methods Of Genotyping

Question 1

Alleles Definition

Answer 1

Alternative forms of DNA sequence

Question 2

2 types of Single Nucleotide substitutions

Answer 2

Transitions
Transversions

Question 3

Transition Mutation Definition

Answer 3

Purine-Purine/Pyrimidine-Pyrimidine Substitution

Question 4

Transverse Mutation Definition

Answer 4

Purine-Pyrimidine Substitution

Question 5

Impact of Transition/Transverse Mutation

Answer 5

Transition - no impact (synonymous)
Transverse - impacts DNA structure/stability (non-synonymous)

Question 6

4 common DNA Polymorphisms

Answer 6

RFLP’s
VNTR’s
STR’s
Alu

Question 7

RFLP Definition

Answer 7

Restriction Fragment Length Polymorphisms
Variable bp length

Question 8

VNTR Defintion

Answer 8

Variable Number of Tandem Repeats
large (10-100bp)

Question 9

STR Defintion

Answer 9

Short Tandem Repeat
2-13 bp long
Microsatellite

Question 10

Alu Definition

Answer 10

SINE/LINE Polymorphisms (Short/Long Interspersed Nuclear Elements)
SINE 50-500bp
LINE ~7000bp

Question 11

Factor analyzed for DNA Polymorphisms

Answer 11

Change in nucleotide sequence size

Question 12

Blotting Definition

Answer 12

Method of Transferring DNA/RNA/Proteins onto a carrier

Question 13

What type of mutation are STR’s?

Answer 13

Microsatellites

Question 14

STR Polymorphisms (3 points)

Answer 14

Multiple repeats of the same short DNA sequence
Number of repeats vary between people, therefore easier to identify a person.
When STR is reported, only number of repeats is reported

Question 15

Analysis of STR’s

Answer 15

Use Southern Blot or PCR
Detected by fluorescence if fluorophore is attached

Question 16

Allelic Ladder Definition

Answer 16

Standard representing all alleles observed in a population

Question 17

4 types of STR Markers

Answer 17

Simple
Simple + Non-consensus
Compound
Complex

Question 18

Simple STR Marker Definition

Answer 18

Contains units of identical length/sequence

Question 19

Simple + Non-consensus STR Marker Definition

Answer 19

Simple repeat with a different allele represent

Question 20

Compound STR Marker Definition

Answer 20

Contains 2+ adjacent simple repeats

Question 21

Complex STR Marker Definition

Answer 21

Contains several repeat blocks of variable unit length

Question 22

Definition of AFLP-PCR

Answer 22

Amplified Fragment Length Polymorphism PCR
Used to analyze total cellular DNA using multiple restriction enzymes and adapted primers
Can be used to differentiate bacteria

Question 23

RAPD Definition

Answer 23

Random Amplification of Polymorphic DNA
Used when mutation is unknown

Question 24

qPCR Definition

Answer 24

Quantitative PCR using a fluorescent reporter

Question 25

H

Answer 25

J