Genetic Polymorphism

Question 1

A difference in DNA sequence among individuals, groups, or populations

Answer 1

genetic polymorphism

Question 2

For genetic polymorphism, The occurrence in the same population of two or more alleles at one locus, each with appreciable frequency, where the minimum frequency is typically taken as \_\_%
A. 1
B. 2
C. 3
D. 4

Answer 2

A

less than 1 = mutation

Question 3

T/F

Sexual dimorphism is a type of genetic polymorphism.

Answer 3

T

Question 4

Which is not a type of genetic polymorphism?
A. lactose intolerance
B. G6PD Deficiency
C. ABO Blood groups
D. NOTA

Answer 4

D

Question 5

false about DNA polymorphisms
A. Sequence difference compared to a reference
standard that is present

Answer 5

C = not always

Question 6

T/F
If the location of a DNA polymorphic sequence is known, it can serve as a landmark or marker for locating other
genes or genetic regions.

Answer 6

T

Question 7

Identify the type of DNA polymorphism:
Variation in the DNA sequence of a genome detected
by breaking DNA into pieces with restriction enzymes

Answer 7

Restriction Fragment Length Polymorphisms (RFLP)

Question 8

Which is false about RFLP?
A. Landmark DNA sequences with mark where the gene
will be cut by restriction enzymes or endonucleases
B. Analyze fragment by gel electrophoresis
C. RFLP as a Molecular marker is not specific to a single
clone/restriction enzyme combination

Answer 8

C - specific siya

Question 9

identify the polymorphism: Location in a genome where a short nucleotide is organized as a tandem repeat. These can be found on many chromosomes and often
show variation in length

Answer 9

Variable Number Tandem Repeats (VNTR)

Question 10

T/F
Each variant acts as an inherited allele allowing use
for identification

Answer 10

T

Question 11

False about Variable Number Tandem Repeats:
A.Typically in exon region – usually expressed
B. Prevalent method for determining genetic profiles in
forensic cases
C. Analysis is performed by extracting nuclear DNA from
cells of interest
D. DNA is amplified using PCR

Answer 11

A

Question 12

What are Single Nucleotide Repeats?

Answer 12

Single nucleotide differences between DNA

sequences

Question 13

false about Single Nucleotide Repeats
A. One SNP occurs approximately every 1250 base
pairs in human DNA
B. SNPs are detected by sequencing, melt curve
analysis, or other methods
C. 99% have biological effect, 60 000 are outside
genes

Answer 13

C = 99% have no biological effect. 60 000 are in genes

Question 14

Differentiate transition substitution from transverse substitution

Answer 14

Transition Substitution - occurs between purine (A,G) or
between pyrimidines (C,T) & constitutes two thirds of all SNPs
Transverse substitution - occurs between a purine and a
pyrimidine

Question 15

Which is false?
A. There are onethird as many SNPs within coding regions as noncoding region SNPs.
B. Single Nucleotide Repeats’ distribution is uniform over the entire human genome.
C. both of the above
D. none of the above

Answer 15

B = not uniform

Question 16

Coding Region Single Nucleotide Repeat - enumerate & differentiate the two possible effects

Answer 16

Synonymous Substitution - causes no amino acid change to the protein it produces; silent mutation
Non Synonymous Substitution - results in an alteration of the encoded amino acid; missense/nonsense mutation

Question 17

most important SNP array application

Answer 17

determining disease susceptibility and for measuring
the efficacy of drug therapies designed specifically for
individuals