1|Page
MEDICAL GENETICS FINAL ACTUAL EXAM PREP
2026 ALL QUESTIONS AND CORRECT DETAILED
ANSWERS ALREADY A GRADED WITH EXPERT
FEEDBACK |CURRENTLY TESTING | NEW AND
REVISED
1. 1. (2 Pts) The most common Cystic Fibrosis mutation consists of:A) A deletion
frameshift mutation B) A repeat expansion mutation C) A single base substitu- tion D)
An insertion frameshift mutation: C) A single base substitution
2. Albinism is an autosomal recessive trait in humans. Assume that there are 100
albinos (aa) in a population of 1 million. How many individuals would be expected
to be homozygous normal (AA) under equilibrium conditions?
A) 100 B) 10,000 C) 19,800 D) 980,100 E) 999,900: D) 980,100
3. In a group of 500 people, the frequency of genotype NN is 40%. Assuming both
autosomal inheritance and that the population is in Hardy-Weinberg equilibrium,
how many individuals would you expect in this population to have the MN
genotype?
A) 68 B) 232 C) 300 D) 200 E) 258: B) 232
4. Consanguinity significantly increases the probability of: A) Autosomal domi- nant
conditions B) Codominant conditions C) Autosomal recessive conditions
D) Splice-site mutations: C) Autosomal recessive conditions
5. A certain form of PHENYLKETONURIA (PKU) in humans is recessive and auto-
somal. Assume that 4% of the individuals in a given population of 100,000 de-
veloped PKU. Assuming that the population is in Hardy-Weinberg equilibrium, how
many of the individuals in this population are expected to be heterozy- gous?
A) 20000 B) 80000 C) 16000 D) 32000 E) 40000: D) 32000
6. In a population of 100 individuals, 36% are of the NN blood type. What
percentage is expected to be MN assuming Hardy—Weinberg equilibrium
conditions?A) 48% B) 40% C) 42% D) 45%: A) 48%
7. What is independent assortment?A) Genes at different loci are transmitted
independently; the transmission of a specific allele at one locus has no effect on which
,2|Page
allele is transmitted at the other locusB) Fertilization is random.C) Dur- ing gamete
formation, allele pairs are separated to form haploid gametes.D) Genes lie on
chromosomes.E) Chromosomes can swap information during meiosis.: A) Genes at ditterent loci are
transmitted independently; the transmission of a specific allele at one locus has no ettect on which allele is transmitted at the other
locus
,3|Page
8. Which of the following human genetic disorders is known to be caused by point
mutation?A) Beta-Thalassemia B) Alpha-Thalassemia C) Cystic Fibrosis D) Duchenne
Muscular Dystrophy E) Becker Muscular Dystrophy: A) Beta-Thalassemia
9. A certain form of albinism in humans is recessive and autosomal. Assume that
1% of the individuals in a given population are albino. Assuming that the
population is in Hardy- Weinberg equilibrium, what percentage of the individuals
in this population is expected to be heterozygous?
A) 18% B) 36% C) 42% D) 49%: A) 18%
10. The mutation that causes Huntington disease is best described asA) a CAG repeat
that occurs in the 3' untranslated region of the geneB) a CAG repeat expansion that
produces a protein that tends to form within and near neuronal nuclei C) a CAG repeat
expansion that causes earlier onset of the disease in females than in malesD) a CAG
repeat expansion that causes earlier onset of the disease in males than in femalesE) a
CAG repeat expansion located in the 5' untranslated region of the gene.: B) a CAG repeat expansion
that produces a protein that tends to form within and near neuronal nuclei
11. In the accompanying figure, determine the possible genotype ual 3.
A) Aa onlyB) Either AA or Aa C) aa onlyD) AA only: (s) of individ-
12. Which of the following terms is used to describe a single disease phenotype can be
caused by mutations at different loci in different family?
A) Allelic Heterogeneity B) Locus Heterogeneity C) Variable Expression D) Re- duced
Penetrance E) Consanguinity: B) Locus Heterogeneity
13. What term is used to describe the presence of more than one genetically distinct
cell line in the body?
A) Pleiotropy B) Mosaicism C) Allelic heterogeneity D) Locus heterogeneity E)
Obligate carrier: B) Mosaicism
14. Reduced Penetrance means that ...A) Genotype can produce phenotypes of varying
severity or expression
B) The presence of normal and abnormal cells with a mutation recognized with the
constant mosaic ratio in various tissues in the examined individual
,4|Page
C) Disease-causing genotype may never exhibit the disease-causing pheno- type,
even though (s)he can transmit the disease-causing allele to the next generation
D) Delay in age of onset of genetic disease: C) Disease-causing genotype may never exhibit the disease-
causing phenotype, even though (s)he can transmit the disease-causing allele to the next generation
15. In the general population, 1 in 300 individuals is a carrier for Tay-Sachs
disease, while 1 in 30 individuals of Ashkenazi Jew descent are carriers.
Tay-Sachs also affects 1 in 30 individuals with French- Canadian ancestry, al- though
two completely unique mutations are responsible for the Ashkenazi and French-
Canadian mutations. What is the probability of two individuals who are carriers
having a child with Tay-Sachs if one individual is of Ashkenazi descent and one is
not?
A) 0.00000277 B) 0.0000277 C) 0.000277 D) 0.00277 E) 0.0227: B) 0.0000277
16. Which of the follow disorders is known to exhibit paternal anticipation?A) Becker
Muscular Dystrophy B) Cystic Fibrosis C) Duchenne Muscular Dystrophy
D) Huntington Disease E) Tyrosinase-negative albinism: D) Huntington Disease
17. Which of the following conditions is commonly caused by deletion frameshift
mutation (loss of phenylalanine) and transmitted in an autosomal recessive inheritance
pattern?
A) Cystic Fibrosis B) Huntington Disease C) alpha Thalassemia D) Marfan Syn- drome
E) Fragile X Syndrome: A) Cystic Fibrosis
18. In the Hardy-Weinberg equation the term (2pq) represents .A) the
observed number of heterozygotes an equilibrium population with allele fre-
quencies p and q B) the expected number of heterozygotes an equilibrium population
with allele frequencies p and q C) the observed number of homozy- gotes an
equilibrium population with allele frequencies p and q D) the expected number of
homozygotes in an equilibrium population with allele frequencies p and q: B) the expected
number of heterozygotes an equilibrium population with allele frequencies p and q
19. What is the original source of genetic variation in a population? A) crossing
over B) mutation C) independent assortmentD) random mating E) natural se- lection: B)
mutation
MEDICAL GENETICS FINAL ACTUAL EXAM PREP
2026 ALL QUESTIONS AND CORRECT DETAILED
ANSWERS ALREADY A GRADED WITH EXPERT
FEEDBACK |CURRENTLY TESTING | NEW AND
REVISED
1. 1. (2 Pts) The most common Cystic Fibrosis mutation consists of:A) A deletion
frameshift mutation B) A repeat expansion mutation C) A single base substitu- tion D)
An insertion frameshift mutation: C) A single base substitution
2. Albinism is an autosomal recessive trait in humans. Assume that there are 100
albinos (aa) in a population of 1 million. How many individuals would be expected
to be homozygous normal (AA) under equilibrium conditions?
A) 100 B) 10,000 C) 19,800 D) 980,100 E) 999,900: D) 980,100
3. In a group of 500 people, the frequency of genotype NN is 40%. Assuming both
autosomal inheritance and that the population is in Hardy-Weinberg equilibrium,
how many individuals would you expect in this population to have the MN
genotype?
A) 68 B) 232 C) 300 D) 200 E) 258: B) 232
4. Consanguinity significantly increases the probability of: A) Autosomal domi- nant
conditions B) Codominant conditions C) Autosomal recessive conditions
D) Splice-site mutations: C) Autosomal recessive conditions
5. A certain form of PHENYLKETONURIA (PKU) in humans is recessive and auto-
somal. Assume that 4% of the individuals in a given population of 100,000 de-
veloped PKU. Assuming that the population is in Hardy-Weinberg equilibrium, how
many of the individuals in this population are expected to be heterozy- gous?
A) 20000 B) 80000 C) 16000 D) 32000 E) 40000: D) 32000
6. In a population of 100 individuals, 36% are of the NN blood type. What
percentage is expected to be MN assuming Hardy—Weinberg equilibrium
conditions?A) 48% B) 40% C) 42% D) 45%: A) 48%
7. What is independent assortment?A) Genes at different loci are transmitted
independently; the transmission of a specific allele at one locus has no effect on which
,2|Page
allele is transmitted at the other locusB) Fertilization is random.C) Dur- ing gamete
formation, allele pairs are separated to form haploid gametes.D) Genes lie on
chromosomes.E) Chromosomes can swap information during meiosis.: A) Genes at ditterent loci are
transmitted independently; the transmission of a specific allele at one locus has no ettect on which allele is transmitted at the other
locus
,3|Page
8. Which of the following human genetic disorders is known to be caused by point
mutation?A) Beta-Thalassemia B) Alpha-Thalassemia C) Cystic Fibrosis D) Duchenne
Muscular Dystrophy E) Becker Muscular Dystrophy: A) Beta-Thalassemia
9. A certain form of albinism in humans is recessive and autosomal. Assume that
1% of the individuals in a given population are albino. Assuming that the
population is in Hardy- Weinberg equilibrium, what percentage of the individuals
in this population is expected to be heterozygous?
A) 18% B) 36% C) 42% D) 49%: A) 18%
10. The mutation that causes Huntington disease is best described asA) a CAG repeat
that occurs in the 3' untranslated region of the geneB) a CAG repeat expansion that
produces a protein that tends to form within and near neuronal nuclei C) a CAG repeat
expansion that causes earlier onset of the disease in females than in malesD) a CAG
repeat expansion that causes earlier onset of the disease in males than in femalesE) a
CAG repeat expansion located in the 5' untranslated region of the gene.: B) a CAG repeat expansion
that produces a protein that tends to form within and near neuronal nuclei
11. In the accompanying figure, determine the possible genotype ual 3.
A) Aa onlyB) Either AA or Aa C) aa onlyD) AA only: (s) of individ-
12. Which of the following terms is used to describe a single disease phenotype can be
caused by mutations at different loci in different family?
A) Allelic Heterogeneity B) Locus Heterogeneity C) Variable Expression D) Re- duced
Penetrance E) Consanguinity: B) Locus Heterogeneity
13. What term is used to describe the presence of more than one genetically distinct
cell line in the body?
A) Pleiotropy B) Mosaicism C) Allelic heterogeneity D) Locus heterogeneity E)
Obligate carrier: B) Mosaicism
14. Reduced Penetrance means that ...A) Genotype can produce phenotypes of varying
severity or expression
B) The presence of normal and abnormal cells with a mutation recognized with the
constant mosaic ratio in various tissues in the examined individual
,4|Page
C) Disease-causing genotype may never exhibit the disease-causing pheno- type,
even though (s)he can transmit the disease-causing allele to the next generation
D) Delay in age of onset of genetic disease: C) Disease-causing genotype may never exhibit the disease-
causing phenotype, even though (s)he can transmit the disease-causing allele to the next generation
15. In the general population, 1 in 300 individuals is a carrier for Tay-Sachs
disease, while 1 in 30 individuals of Ashkenazi Jew descent are carriers.
Tay-Sachs also affects 1 in 30 individuals with French- Canadian ancestry, al- though
two completely unique mutations are responsible for the Ashkenazi and French-
Canadian mutations. What is the probability of two individuals who are carriers
having a child with Tay-Sachs if one individual is of Ashkenazi descent and one is
not?
A) 0.00000277 B) 0.0000277 C) 0.000277 D) 0.00277 E) 0.0227: B) 0.0000277
16. Which of the follow disorders is known to exhibit paternal anticipation?A) Becker
Muscular Dystrophy B) Cystic Fibrosis C) Duchenne Muscular Dystrophy
D) Huntington Disease E) Tyrosinase-negative albinism: D) Huntington Disease
17. Which of the following conditions is commonly caused by deletion frameshift
mutation (loss of phenylalanine) and transmitted in an autosomal recessive inheritance
pattern?
A) Cystic Fibrosis B) Huntington Disease C) alpha Thalassemia D) Marfan Syn- drome
E) Fragile X Syndrome: A) Cystic Fibrosis
18. In the Hardy-Weinberg equation the term (2pq) represents .A) the
observed number of heterozygotes an equilibrium population with allele fre-
quencies p and q B) the expected number of heterozygotes an equilibrium population
with allele frequencies p and q C) the observed number of homozy- gotes an
equilibrium population with allele frequencies p and q D) the expected number of
homozygotes in an equilibrium population with allele frequencies p and q: B) the expected
number of heterozygotes an equilibrium population with allele frequencies p and q
19. What is the original source of genetic variation in a population? A) crossing
over B) mutation C) independent assortmentD) random mating E) natural se- lection: B)
mutation
