Exercises

Most exam questions deal with polymophic trait,

autosomal recessive and X-linked disorders
Disease frequency (incidence) is given
Find disease allele frequency
Find carrier frequency
Carrier frequency is given
Find disease allele frequency

Find disease frequency

q is given

Find carrier frequency

Find disease frequency

Q
Blue eyes are an autosomal recessive trait. If in a
given population, about 1 in 100 individuals have blue
eyes, approximately how many people are carriers
for the gene for blue eyes?

A. 1 in 100
B. 9 in 100
C. 10 in 100
D. 18 in 100
E. 26 in 100

A
Blue eyes are an autosomal recessive trait. If in a

given population, about 1 in 100 individuals have blue

eyes, approximately how many people are carriers
for the gene for blue eyes?
A. 1 in 100
B. 9 in 100
C. 10 in 100
D. 18 in 100
E. 26 in 100

q2=1/100, thus q=1/10= 0.1

p=1-q=1-(1/10) = 9/10=0.9
Carrier frequency = 2pq=
2 x 0.9 x 0.1 = 0.18 or 18 in 100
In this case the genetic trait
(blue eyes) is common and real p
value has to be used

Q
A young woman of northern European descent is the
single parent of a child with autosomal recessive cystic
fibrosis (CF). She marries a genetically unrelated man of
northern European descent and wishes to have more
children. What is the risk that he is a carrier of CF?
Assume the frequency of CF is 1/2500 in this population.

A.
B.
C.
D.
E.

1/2500
1/1250
1/50
1/25
1/4

A
A young woman of northern European descent is the
single parent of a child with autosomal recessive cystic
fibrosis (CF). She marries a genetically unrelated man of
northern European descent and wishes to have more
children. What is the risk that he is a carrier of CF?
Assume the frequency of CF is 1/2500 in this population.
A.
B.
C.
D.
E.

1/2500
1/1250
1/50
1/25
1/4

In this question the frequency

of disease is known and it is the
carrier frequency which is
calculated.

Frequency of CF = q2 = 1/2500 , thus q =sqr of 1/2500= 1/50

p= 1- (1/50) 1
Carrier frequency = 2pq = 2 x 1/50 x 1 = 1/25.
You can round p to 1 only when the mutation is rare!

Q
Assuming Hardy-Weinberg equilibrium for alleles at
the CFTR (cystic fibrosis) locus in the U.S. Caucasian
population, and given that the mutant allele
frequency, q, is 1/50, what fraction of this
population are carriers of a CFTR mutation?

A. (1/50)2
B. 1/100
C. 1/50
D. 2/50
E. (49/50)2

A
Assuming Hardy-Weinberg equilibrium for alleles at
the CFTR (cystic fibrosis) locus in the U.S. Caucasian
population, and given that the mutant allele
frequency, q, is 1/50, what fraction of this
population are carriers of a CFTR mutation?
A. (1/50)2
B. 1/100
C. 1/50
D. 1/25
E. (49/50)2

In this question the mutant

allele frequency, q, is known and
it is the carrier frequency, 2pq,
which is calculated.

p= 1-q= 1-(1/50) = 49/50 1

2pq 2q= 2 x 1/50 = 2/50 = 1/25
In this case the genetic disease is rare, it means very low q
frequency, thus approximation p 1 is used

Q
Pharmacogenetics, or the study of drug-induced
disease due to genetic variation, is receiving
increased attention particularly with regard to
population or at least to preoperative screening.
The frequency of heterozygotes for variant
butyrylcholinesterase (BChE) alleles in Caucasians
is about 4 per 100, implying an incicidence of
individuals with potential for severe apnea of which
of the following?
A.
B.
C.
D.
E.

1 in 5000
1 in 2500
1 in 1250
1 in 500
1 in 50

A
Pharmacogenetics, or the study of drug-induced
disease due to genetic variation, is receiving
increased attention particularly with regard to
population or at least to preoperative screening.
The frequency of heterozygotes for variant
butyrylcholinesterase (BChE) alleles in Caucasians
is about 4 per 100, implying an incidence of
individuals with potential for severe apnea of which
of the following?
A.
B.
C.
D.
E.

1 in 5000
1 in 2500
1 in 1250
1 in 500
1 in 50

In this question the carrier frequency, 2pq,

is known and it is the disease frequency, q2,
which should be calculated.

Carrier frequency=2pq= 4/100

Approximate p1
2q=4/100
q=2/100=1/50
q2 = (1/50)2=1/2500

Q
Hemochromatosis is a common autosomal
recessive disorder of iron absorption. The gene
frequency is approximately 0.05 (1/20) in some
Northern European populations. What is a
carrier frequency in these populations?

A. 1 in 5
B. 1 in 10
C. 1 in 20
D. 1 in 30
E. 1 in 50

A
Hemochromatosis is a common autosomal
recessive disorder of iron absorption. The gene
frequency is approximately 0.05 (1/20) in some
Northern European populations. What is a
carrier frequency in these populations?

A. 1 in 5
B. 1 in 10
C. 1 in 20
D. 1 in 30
E. 1 in 50

q=0.05
p=1 - 0.05= 0.951
Carrier frequency =
2pq 2 x 0.05 = 0.1 (10%)
or
2pq = 2x 1/20 = 1/10
Carrier frequency 1 in 10 (1/10)

Q
Hemochromatosis is a common autosomal recessive
disorder of iron absorption. The gene frequency is
approximately 0.05 (1/20) in some Northern
European populations. If the penetrance of the
disease-causing genotype is 0.5 in males and 0.2 in
females, what is the expected incidence of the
disease phenotype in the male and female
populations?
A. males 1/800; females 1/2000

B. males 1/1000; females 1/3000

C. males 1/2000; females 1/4000

A
Hemochromatosis is a common autosomal recessive
disorder of iron absorption. The gene frequency is
approximately 0.05 (1/20) in some Northern
European populations. If the penetrance of the
disease-causing genotype is 0.5 in males and 0.2 in
females, what is the expected incidence of the
disease phenotype in the male and female
populations?
A. males 1/800; females 1/2000
B. males 1/1000; females 1/3000
C. males 1/2000; females 1/4000
Frequency of mutant homozygotes = (1/20)2 = 1/400
Expected incidence of the disease= q2 x penetrance
Males = (1/400) x 0.5 = 1/800
Females = (1/400) x 0.2= 1/2000

Incidence of hemophilia A is 1 in 4000

males. What is the carrier frequency in
the female populations?
A.
B.
C.
D.
E.

1 in 1000
1 in 2000
1 in 3000
1 in 4000
1 in 5000

Incidence of hemophilia A is 1 in 4000

males. What is the carrier frequency in
the female populations?
A.
B.
C.
D.
E.

1 in 1000
1 in 2000
1 in 3000
1 in 4000
1 in 5000

q = 1/4000
p=1 1/4000 1
Carrier frequency in females = 2pq = 2 x 1/4000 = 1/2000

Q
The H-Y antigen is encoded by a gene on the human
Y chromosome. Suppose that a variant allele at the
H-Y locus is found in one in 1,000 males in a
population. What is the gene frequency of this
allele in the male population?
A. 1/500
B. 1/1000
C. 1/2000
D. 1/5000

A
The H-Y antigen is encoded by a gene on the human
Y chromosome. Suppose that a variant allele at the
H-Y locus is found in one in 1,000 males in a
population. What is the gene frequency of this
allele in the male population?
A. 1/500
B. 1/1000
C. 1/2000
D. 1/5000

Q
The H-Y antigen is encoded by a gene on the
human Y chromosome. Suppose that a
variant allele at the H-Y locus is found in one
in 1,000 males in a population. What is the
gene frequency of this allele in the female
population?

A.
B.
C.
D.

1/500
1/1000
1/2000
0

The H-Y antigen is encoded by a gene on the A

human Y chromosome. Suppose that a variant
allele at the H-Y locus is found in one in 1,000
males in a population. What is the gene
frequency of this allele in the female
population?
A.
B.
C.
D.

1/500
1/1000
1/2000
0

Females do not have Y chromosome!

(except of very rare cases of DSD, such as androgen
insensitivity syndrome, XY SRY- female etc)

A frequency of carriers of Tay-Sachs disease in

Ashkenazi Jewish population is 1 in 30. Some Jewish
communities offer carrier testing for young adults so
they will know their status before marriage. A known
carrier female becomes involved with an exchanged
student from Russia who also is Ashkenazi Jewish, but
who has not had carrier testing.
What is the chance that a child of this union will have
Tay-Sachs disease?

A. 1 in 2
B. 1 in 15
C. 1 in 30
D. 1 in 60
E. 1 in 120

A frequency of carriers of Tay-Sachs disease in

Ashkenazi Jewish population is 1 in 30. Some Jewish
communities offer carrier testing for young adults so
they will know their status before marriage. A known
carrier female becomes involved with an exchanged
student from Russia who also is Ashkenazi Jewish, but
who has not had carrier testing.
What is the chance that a child of this union will have
Tay-Sachs disease?

A. 1 in 2
B. 1 in 15
C. 1 in 30
D. 1 in 60
E. 1 in 120

She is a carrier
His chance to be a carrier 1/30
If both parents are carriers then the baby
has 1/4 chance to be affected
The answer= (1/30) x ( ) = 1/120

The following slides illustrate

different ways of testing the
same idea

Q
Some autosomal recessive diseases have a high prevalence
in large populations, even though they are often fatal (e.g.,
sickle cell disease in Africans, cystic fibrosis in
Europeans). Which of the following is the most
likely explanation for this phenomenon?
A. Inbreeding
B. High mutation rates in specific populations
C. Survival advantage in heterozygous carriers
D. Survival advantage in individuals who are normal
homozygotes

E. None of the above mechanisms explain the pattern

A
Some autosomal recessive diseases have a high prevalence
in large populations, even though they are often fatal (e.g.,
sickle cell disease in Africans, cystic fibrosis in
Europeans). Which of the following is the most
likely explanation for this phenomenon?
A. Inbreeding
B. High mutation rates in specific populations
C. Survival advantage in heterozygous carriers
D. Survival advantage in individuals who are normal
homozygotes

E. None of the above mechanisms explain the pattern

Q
It has been suggested that cystic fibrosis (autosomal
recessive) has a high prevalence in some populations
because heterozygotes are resistant to the effects
of chloride-secreting diarrhea. This is best

described as an example of
A.
B.
C.
D.
E.

Mutation
Gene flow
Genetic drift
Natural selection
Linkage disequilibrium

A
It has been suggested that cystic fibrosis (autosomal

recessive) has a high prevalence in some populations

because heterozygotes are resistant to the effects
of chloride-secreting diarrhea. This is best

described as an example of
A.
B.
C.
D.
E.

Mutation
Gene flow
Genetic drift
Natural selection
Linkage disequilibrium

What is a likely explanation for the high prevalence of

cystic fibrosis in European populations?
A. Most of the disease genes are hidden in heterozygotes

B. The locus has a high mutation rate.

C. Many different mutations can cause cystic fibrosis
D. Inbreeding is common among Europeans

E. Heterozygotes may have an advantage because of

increased resistance to typhoid fever

What is a likely explanation for the high prevalence of

cystic fibrosis in European populations?
A. Most of the disease genes are hidden in heterozygotes

B. The locus has a high mutation rate.

C. Many different mutations can cause cystic fibrosis
D. Inbreeding is common among Europeans

E. Heterozygotes may have an advantage because of

increased resistance to typhoid fever

Q
Gene frequency of this disease is especially
high among Ashkenazi Jews
A.
B.
C.
D.
E.

Marfan syndrome
Tay-Sachs disease
Cystic fibrosis
Sickle cell disease
Osteogenesis imperfecta

A
Gene frequency of this disease is especially
high among Ashkenazi Jews
A.
B.
C.
D.
E.

Marfan syndrome
Tay-Sachs disease
Cystic fibrosis
Sickle cell disease
Osteogenesis imperfecta