1) A patient with 47 XX, +21 has how many total number of chromosome No. 1 in the nucleus
of his cell?
a) 1
b) 2
c) 21
d) None
e) 47
2) What type of cell is affected in patients who possess the germ line mosaicism?
a) Gonadal cells
b) Somatic cells
c) Hair cells
d) Germs
e) A+B
3) What is/are the use/s of modern DNA technologies?
a) Diagnosis of disease
b) Gene therapy
c) Agriculture
d) Population genetics
e) All the above
fig.1
4) In a case of paternal dispute and child custody where both the males partners denied their
association with the child, the court ordered for DNA fingerprinting as in fig.1.Who do you
think is the child’s father?
a) Male 1
b) Male 2
c) Both males
d) None of the above
e) The child does not belong to the alleged mother.
5) What are the types of mutations that you know of?
a)
b)
c)
d)
e)
Base substitution
Deletion
Insertion
All the above
None of the above
Mut No.1
Mut No.2
fig 2
Abbrevation:- Mut = Mutation
6) In the above figure no.2, the first column shows no mutation/ normal amino acid product
with the normal DNA gene. Eg. 1 and 2 show mutations. What is/are the type of mutation/s
shown here?
a) Mut No. 1= Silent, Mut no.2= Missense
b) Mut No. 1= Silent, Mut no.2=Nonsense
c) Mut No. 1= Frame shift, Mut no.2=Nonsense
d) Mut No. 1= Missense, Mut no.2=Nonsense
e) Mut No. 1= Nonsense, Mut no.2=Silent
7) Prader-Willi syndrome is caused due to mutation in the ____?
a) X-chromosome
b) Paternal autosomal chromosome
c) Paternal X chromosome
d) Maternal chromosome
e) Mitochondrial DNA
8) Lebers hereditary optic neuropathy is seen due to mutation in the
a) X-chromosome
b) Paternal autosomal chromosome
c) Paternal x chromosome
d) Maternal chromosome
e) Mitochondrial DNA
9) A patient has 45xx,-1, what does it mean specifically,
a) Deletion of one of the chromosomes
b) Deletion of X chromosome
c) Deletion of part of chromosome 1
d) Wrong way of representation
e) Deletion of chromosome number 1
10) 'Carrier status' is the characteristic feature of which type of inheritance pattern?
a) Autosomal
b) X-linked
c) Mitochondrial
d) Dominant
e) Recessive
11) Specific site of any gene on the DNA is represented as?
a) Allele
b) Locus
c) Chromosome
d) All the above
e) None of the above
fig.3
12) Calculate the degree of relationship and proportion of genes shared between half siblings ?
a) 1/2
b) 1/4
c) 1/8
d) 1/16
e) 1/32
13)
a)
b)
c)
d)
e)
What is the concept of 45xx,-1,
Short tandem repeats are used for identification of a particular person
Barr bodies are used to identify a particular person
Chromosome number is used to identify a particular person
Finger prints are used to identify a particular person
All the above
14) About millions of sheep that walk the earth 'Dolly' the sheep is so famous and important for
humans because of ___?
a) Recombinant DNA technology
b)
c)
d)
e)
DNA cloning
Born naturally
Genetic mutation
In vitro fertilization
15) Regarding human genome project, which of the following statements is true?
a) Largest genome project
b) Entire human DNA was deciphered
c) Completed in the year 2000
d) Suggested that human DNA is composed of 3.2 Gb
e) All the above
Fig.4
16) A 22 year old patient has tuft of hair over his pinna for which he is very embarrassed. What
is the pattern of inheritance as shown in fig. 4 for his condition?
a) X linked recessive
b) Y linked inheritance
c) Autosomal dominant
d) Autosomal recessive
e) Mitochondrial inheritance
17) What is true regarding barr body
a) Occurs due to x inactivation
b) Associated with concept of lyon hypothesis
c) Useful for sex identification in forensic setup
d) Never seen in males
e) All the above
18) Match the following patterns of inheritance to their characteristics
i) Autosomal dominant
a)only inherited from the mother
ii) Autosomal recessive
b)consanguinity plays a major role
a)
b)
c)
d)
e)
iii) Mitochondrial inheritance c)even one mutated allele is enough to produce the disease
iv) X linked recessive
d)none of the daughters but 50% of male offsprings will
show the signs and symptoms of the disease
I=a,
ii=b,
iii=c,
iv=d
I=b,
ii=d,
iii=c,
iv=a
I=c,
ii=b,
iii=a, iv=d
I=d,
ii=c,
iii=b,
iv=a
I=c,
ii=d,
iii=a,
iv=b
19) Which of the following is/are structural chromosomal alterations?
a) Deletions
b) Inversion
c) Ring chromosome
d) Translocation
e) All the above
20) A patient with blue sclera, brittle bones, severe deformities and respiratory complaints
presents to you in the clinic while on your first day of rotations as an intern. You observe his
blue sclera which is an expression of the disease. So with respect to his genetic constitution
his feature would be defined as which of the following?
a) Phenotype
b) Genotype
c) Phenocopy
d) Genocopy
e) Allele
21) A baby found abandoned in a park is brought to you in the hospital neonatology ICU. The
baby appears severely dehydrated. Along with other biochemical investigations you ask for
the baby’s blood group. At the gene locus for the ABO blood type carbohydrate antigens in
humans, classical genetics recognizes three alleles, IA, IB, and IO. What are all the possible
genotypes that any individual can have based on this information?
a) 3
b) 4
c) 6
d) 8
e) 9
22) Husband and his wife come to the clinic for routine evaluation. Both seem to be doing well.
How would you represent their relation to each other on a pedigree
a)
b)
c)
d)
e) None of above
23) A 10 yr old girl is diagnosed with Marfan syndrome, an autosomal dominant condition. An
extensive review of her pedigree indicates no previous family history of this disorder. The
most likely explanation of this pattern of inheritance is?
a) Highly variable expression of the disease phenotype
b) Incomplete penetrance
c) Mitochondrial compensation in mother
d) New mutation transmitted by one of the parent to the affected girl
e) Pleiotrophy
24) A child is brought to the emergency department with hemarthrosis (bleeding into the joints,
a painful condition that produces swelling and a loss of joint mobility). On further enquiry,
you find out that he had history of prolonged bleeding episodes in the past. His mother
provides you with an I.D. card bearing the diagnosis of the child stating Hemophilia B.
Remembering your genetic classes from medical school you know that hemophilia B is
caused by mutation on Xq27.1,2. So what does number 7 represent on the chromosome?
a) Band
b) Sub sub band
c) Region
d) Arm
e) None of the above
25) A 6 yr old boy has a family history of mental retardation and has developmental delay and
some unusual facial features. He is been evaluated for Fragile X syndrome. Which of the
following would be most useful in establishing the diagnosis?
a) Genetic test for a trinucleotide repeat expansion
b) IQ test
c) Karyotype of the child’s chromosomes
d) Karyotype of the father’s chromosomes
e) Measurement of testicular volume
fig 5
26) Above is the pedigree pattern fig. 5, you are able to draw while obtaining history from a
patient having acute visual loss. Which kind of inheritance is this likely to be?
a) Autosomal dominance
b) X-linked dominance
c) Pseudo autosomal dominance
d) Mitochondrial inheritance
e) Autosomal recessive
27) A 26 yr old woman has produced two children with Down’s syndrome, and she has also had
two miscarriages. Which of the following would be the best explanation?
a) Her first cousin has Down syndrome
b) Her husband is 62 yrs old
c) She carries robertsonian translocation involving chromosomes 14 and 21
d) She carries reciprocal traslocation between chromosomes 14 and 18
e) She was exposed to multiple physical assaults while pregnant.
28) In a genetic counselling session, a young healthy couple, both of who have never been
genetically tested before has revealed to you that they are first cousins and that they are
concerned about health risks for their offspring. Which of the following best characterizes
their risk?
a) All their children are going to manifest some form of genetic disease
b) Couple has increased risk of producing a child with recessive pattern of inheritance
c) Couple are at an increased risk of have children with mitochondrial pattern of
inheritance
d) Couple has increased risk of have a child with Down syndrome
e) They is no risk at all as they are healthy.
29) An African couple has two children with sickle cell disease. They have asked why this
disease is more common in the African population than in the European population. Which
of the following factors provides the best explanation?
a) Consanguinity
b) Genetic drift
c) Gene flow
d) Mutation
e) Natural selection
30) A 32 yr old patient comes to your clinic for advice regarding his clinical condition. He has
short stature , with significantly short arms and legs, macrocephaly (large head)with mild
facial hypoplasia and hypotonia. He has a very specific question to ask. He wants to know –
what will be the chances of having a normal healthy child without his specific genetic
condition, if he has a child born to a lady with similar features?
a) 75%
b) 100%
c) 50%
d) 25%
e) 0%
31) For couples (who are themselves normal= not being genetically tested before) already have
a child affected with Thalassemia(Thal), the risk of future children having the disease
manifestation of Thal is
a) 1 in2
b) 1 in a million
c) 1 in 4
d) 1 in 8
e) all the children they give birth will have the disease
32) A 9 yr old male child is brought in to the clinic with extreme muscle weakness, calf
hypertrophy, compromised intellectual function and lab reports suggestive of elevated
serum creatine kinase. On further examination you find that he is using Grower’s maneuver.
His sister shows some mild features of skeletal weakness and has dilated cardiomyopathy
on ECHO cardiographic study. What explains the appearance of features in his sister?
a) skewed X inactivation
b) Lyon hypothesis
c) homozygous to mutation (A and B are the same thing)
d) all the above
e) none of the above
33) A boy adopted into a family was diagnosed to have Hemophilia A. He was found along with
his sister in a house wreck at the tsunami affected area. What are the chances that his
sister, who is yet to be adopted, is also suffering from the disorder?
a) 0%
b) information too less to determine
c) 50% chance
d) 100%
e) 75%
34) During a blood donation drive, a 22 yr old male approaches the camp as a possible
candidate for donating blood. His vitals are normal, weight adequate with no prior medical
or surgical history and he has never donated blood before. He however has a maternal
uncle with history of hemophilia. Would you go ahead with the blood donation procedure?
a) yes, because he has never had any bleeding episodes before
b) no, because he might be having mild form of hemophilia based on the concept of
variable expressivity and penetrance
c) may be, depends on the patients consent
d) will call him back after referring to medical textbooks
e) file a case against him for coming to such a camp where he has risk to his life
35) RET gene mutation in some patients present as Hirschsprung’s disease and in others cause
Multiple endocrine neoplasia syndrome. This is an example of
a) variable expressivity
b) reduced penetrance
c) pleiotrophy
d) silly gene effect
e) different kind of mutations are responsible for this
36) A 29 year old male has juvenile onset diabetes mellitus. He has a sister and aunt and a
grandmother suffering from diabetes. Diseases like Heart disease, Diabetes, Cancer,
Alcoholism and many mental illnesses can best be described as
a) symptoms of a bad life-style
b) Symptoms due to lack of exercise
c) infectious diseases caused by microorganisms
d) multifactorial disorders with a possible polygenic component
e) all symptoms of Huntingdon’s disease
37) Tay-Sachs disease runs in Amy’s family. On a family pedigree, she saw a small triangle. This
represented
a) A male with Tay-Sachs
b) A female with Tay-Sachs
c) A carrier male
d) A carrier female
e) Abortion
fig. 6
38) A patient has hyper extensible joints and extra stretchable skin. You obtain his family history
and draw the above pedigree chart fig 6.What pattern of inheritance does this picture most
likely illustrate?
a) X linked recessive
b) X linked dominant
c) Autosomal dominant
d) Autosomal recessive
e) Mitochondrial inheritance.
fig. 7
39) Patient has history of multiple blood transfusions from the childhood. Based on history of
the proband. What pattern of inheritance does this picture fig.7 most likely illustrate?
a) X linked recessive
b) X linked dominant
c) Autosomal dominant
d) Autosomal recessive
e) Mitochondrial inheritance
40) There are many genetics diseases man is aware of and a few we have yet to understand.
Some are purely genetic, some with environmental influence on it and some more, which
are complex. Which of the following human genetic disorders is sex linked?
a) Duchene muscular dystrophy
b) Mafans syndrome
c) Thalassemia
d) Downs syndrome
e) Angelman syndrome
41) A child brought in to the pediatric clinic has short stature, obesity, hypogonadism and
learning difficulty. A particular allele can have different effects if it was inherited from a
father rather than a mother. This phenomenon is known as
a) mitochondrial inheritance
b) genome imprinting error
c) x linked inheritance
d) Angelman syndrome
e) Prader-Willi syndrome
For each of the following scenarios given in question numbers 42,43 and 44, select the most
likely mode of inheritance from the list below
Modes of inheritance THESE QUESTIONS ALL SUCK IM MOSTLY GUESSING
a) Autosomal dominance
b) Autosomal recessive
c) X-linked dominance
d) X-linked recessive
e) Y linked
42) A young man. His siblings, Parents, their siblings, his cousins are all normal. He is not able to
reproduce. D
43) A diseased boy. Have normal parents though they have never been genetically tested
before but have an affected maternal uncle. D
44) A female patient gives history of brother, mother, maternal uncle, and maternal
grandmother all suffering from a particular disease. There is no sign of skip of generation in
her family tree. C
45) Two parents with the following genotypes XaX and XaY where Xa is abnormal. What would
you expect from their offspring?
a) All males would be carriers
b) All females will inherit the gene
c) All females would be homozygous abnormal
d) There can be a female who is not a carrier
e) All males will inherit the disease
46) What are the characteristics of multifactorial inheritance?
a) No distinctive pattern of inheritance
b) Concordance is higher amongst the monozygotic twins
c) More severe the malformation, the greater the recurrence risk.
d) Risk is sharply lower for second-degree than for first-degree relatives
e) All the above
47) Prader willi syndrome as we very well know is caused due to an abnormality on the paternal
chromosome 15 gene encoding SNRPN. It can be caused due to an error in genomic
imprinting, uniparental disomy and deletion mutations. Based on this information please
tell us what you know about an ‘Interstitial deletion’ condition?
a) Occurs due to a single break in which the lost material include telomere.
b) occurs when genetic material is exchanged between two chromosomes
c) occurs when there are four breaks on a chromosome
d) Occurs when there are two breaks on a chromosome and the material between the
breaks is lost.
e) Interstitial type of deletion is not caused a cause of prader-willi syndrome.
48) A 2-year-old boy with Down syndrome requires intubation in the intensive care unit due to
difficulty breathing. He is afflicted with congenital heart disease associated with the disease,
and he dies shortly after admission. What is the most common genetic cause of Down
syndrome?
a) Uniparental monosomy
b) Autosomal dominant inheritance
c) Meiotic nondisjunction
d) X-linked recessive inheritance
e) Decreased maternal age
49) The well respected clan of the ‘Amish’ residing in the regions of Pennsylvania and Ohio
show the disease called the ‘Ellis-van Creveld syndrome’ presentation of which consists of
short rib, heart malformations and polydactyl. The reason why this clan suffers from this
particular disease which is not seen in the rest of the world?
a) Gene flow
b) Founder effect
c) Weird mutations
d) Natural selection
e) All the above
50) A large 3 generation family in whom multiple members are affected with a rare disease, the
undiagnosed disease is being studied. Affected males never produce affected children, but
affected females do produce affected children of both sexes when they mate with
unaffected males. What is the most likely diagnosis?
a) X linked recessive
b) X linked dominant
c) Autosomal dominant
d) Autosomal recessive
e) Mitochondrial inheritance