Genetics Flashcards
The mechanism of meiosis fits with which of the following descriptions?
Select one:
1. Occurs in all tissues
2. Has a short prophase
3. Produces daughter cells identical to parent cells
4. Produces diploid somatic cells
5. Includes recombination
Includes recombination
During the early stages of cell division in meiosis, two chromosomes of a homologous pair may exchange
segments - this is called recombination.
A patient with schizophrenia is more likely to marry someone with a psychiatric problem or substance use.
This is termed as
Select one:
1. Consanguineous mating
2. Natural selection
3. Genetic drift
4. Pleiotropy
5. Assortative mating
Assortative mating
Assortative mating is a well established phenomenon noted in psychiatric genetic epidemiology
What is the risk of Alzheimer dementia in a patient heterozygous for Apo E4 compared to those with no
apoE4 allele?
Select one:
1. Three times higher (OR=3)
2. Nine times higher (OR=9)
3. Same risk (OR=1)
4. Twenty times higher (OR=20)
5. Fifteen times higher (OR=15)
Three times higher (OR=3)
The dose of ApoE4 is directly proportional to the risk of dementia of Alzheimer’s type. The risk for AD is 2 to
3 times higher among first-degree relatives of patients with AD compared with nonrelatives. The genetic
factor with the highest attributable risk for AD is apolipoprotein E (APOE). The APOE gene on chromosome 19q has 3 codominant alleles, 2, 3, and 4, differing by single-base substitutions in the coding region of the gene. The ancestral allele, apoE4, is overrepresented and apoE2 is underrepresented in AD. In Caucasian subjects, the odds of AD for those homozygous for apoE4 is 14.9 times while for those who are heterozygous with one apoE3/4 is 3.2 times greater than the odds associated with apoE3 homozygosity.
Further, the mean age of onset of AD is 2 decades earlier in apoE4 homozygotes.
Which of the following nuclear components undergo removal during splicing?
Select one:
1. Histones
2. Introns
3. Trinucleotide repeats
4. Exons
5. Transfer-RNA
Introns
An intron is any nucleotide sequence within a gene that is removed by RNA splicing to generate the final
mature RNA product of a gene
Deletion in the paternally derived chromosome 15q11-q13 leads to which of the following disorders?
Select one:
1. Tuberous sclerosis
2. Huntington’s disease
3. Di George syndrome
4. Angelman’s syndrome
5. Prader Willi syndrome
Prader Willi syndrome
Though no structural differences exist between maternal and paternally inherited chromosomes in humans, there are some subtle functional differences that are increasingly being appreciated. For example, a
deletion of part of the long arm of chromosome 15 (15q11-q13) will give rise to the Prader-Willi syndrome
(PWS) if it is paternally inherited. A deletion of a similar region of the chromosome gives rise to Angelman’s
syndrome (AS) if it is maternally inherited. This may be due to differential regional expression of the
chromososmes.
Which of the following syndromes is characterised by severe mental retardation, rocker bottom feet, low-set
ears, micrognathia and clenched hands?
Select one:
1. Trisomy 18
2. Velo cardio facial syndrome
3. Down’s syndrome
4. Patau syndrome
5. William’s syndrome
Trisomy 18
Edward’s syndrome is characterised by severe mental retardation and rocker bottom feet, low-set ears,
micrognathia (small jaw), congenital heart disease, clenched hands, and a prominent occiput. It is a result
of trisomy 18. It occurs at a frequency of 1:8000 and often death occurs within1 year of birth.
Which of the following chromosomal loci codes for Catechol-O-methyl transferase (COMT) enzyme?
Select one:
1. chromosome 8q11
2. chromosome 4q11
3. chromosome 22q11
4. chromosome 11q22
5. chromosome Xq11
chromosome 22q11
COMT gene resides in 22q11 locus.
An aborted foetus was found to have 69 chromosomes in each cell. Which of the following terms best
describes the abnormality?
Select one:
1. Diploid
2. Euploid
3. Haploid
4. Monoploid
5. Triploid
Triploid
When cells possess chromosomal numbers different from normal diploidy, they are called aneuploid cells.
Aneuploidy can occur in single numbers e.g. trisomy 21, trisomy 18, monosomy of Turner’s, etc. Very rarely,
the entire chromosome set will be present in more than two copies, so the individual may be triploid rather than diploid and have a chromosome number of 69. Triploidy and tetraploidy (four sets) result in
spontaneous abortion.
CADASIL is associated with a mutation in which of the following genes?
Select one:
1. Dysbindin
2. LRRK2
3. Parkin gene
4. Notch3
5. COMT
Notch3
An unusual form of subcortical small vessel disease occurs in the rare inherited condition of CADASIL
(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) in which a mutation in the Notch3 gene results in deposition of granular material in the walls of small arteries and
arterioles, narrowing of vessel lumens and destruction of smooth muscle cells in their walls.
Which of the following terms describes deletion or insertion mutations that take place in multiples of triplet codons?
Select one:
1. Inframe mutations
2. Substitutions
3. Frame shift mutations
4. Transitions
5. Inversions
Inframe mutations
According to the effect on triplet sequence, mutations could be frame shift or in-frame. In frame shift
mutations, the deletion or insertion is not in multiples of three codons e.g. a segment of 5 bases deletion
mutations. This leads to a shift in triplet reading frame with variable results. Inframe mutation refers to
changes happening in multiples of 3 bases, with no disturbances in the actual reading frame.
Which of the following criteria must be satisfied for a trait to be called an endophenotype?
Select one:
Must be independent of the clinical state
Must be associated with a candidate gene
All of the listed options
Must be co segregating with actual illness
Must have biological plausibility
All of the listed options
To be termed as an endophenotype, Gottesman suggested certain criteria to be satisfied by an identified disease marker. These are as follows: Must be associated with a candidate gene or region Must be present with a high relative risk in relatives, thus co segregating with actual illness Must be a parameter associated with disease with biological plausibility Must be independent of the clinical state (i.e. must not be a state but a trait marker) Must be heritable Must be present in relatives more often than general population.
A young girl with learning difficulties is diagnosed to have trisomy X. Her chromosomes were karyotyped to
diagnose the genetic defect. How many Barr bodies would she have in her somatic cells?
Select one:
1. Information insufficient to answer the question
2. One
3. Two
4. None
5. Three
Two
X inactivation occurs very early in the development of female embryos. When an X chromosome is
inactivated, it could be visualized under the microscope as a highly condensed Barr body in the nuclei of interphase cells. All X chromosomes in a cell are inactivated except one, irrespective of original number of X chromosomes in a cell. Thus females with trisomy X will have two Barr bodies. X inactivation occurs via DNA methylation.
Nucleosides consist of which of the following components?
Select one:
1. Phosphorylated nucleotide
2. Phosphate and nitrogenous base
3. Pentose sugar, phosphate and nitrogenous base
4. Pentose sugar and phosphate
5. Pentose sugar and nitrogenous base
Pentose sugar and nitrogenous base
Genetic information is stored in the form of double-stranded DNA. DNA and RNA are the most important
nucleic acids in the cellular machinery. These nucleic acids are composed of many nucleotides. Nucleotides
are phosphorylated versions of nucleosides. Each nucleoside consists of two components: A nitrogenous
base and a pentose sugar. Each strand of DNA is made up of a deoxyribose-phosphate backbone and a
series of purine (adenine (A) and guanine (G)) and pyrimidine (thymine (T) and cytosine (C)) bases of the
nucleic acid. The length of DNA is generally measured in numbers of base-pairs (bp).
In which of the following patterns of inheritance does skipping one generation but reappearing on the next is commonly seen?
Select one:
1. Translocations
2. Mitochondrial inheritance
3. Autosomal dominant
4. X linked dominant
5. Autosomal recessive
Autosomal recessive
Autosomal recessive disorders manifest themselves only when an individual is homozygous for the disease
allele, i.e. both chromosomes carry the mutated gene. In this case, the parents are generally unaffected,
healthy but carriers (heterozygous for the disease allele). There is usually no family history, although the
defective gene is passed from generation to generation (skipping). The offspring of an affected person will be healthy heterozygotes unless the other parent is also a carrier. If carriers marry, the offspring have a 1 in 4 chance of being homozygous and affected and a 1 in 2 chance of being a carrier, and a 1 in 4 chance of being genetically normal. Consanguinity increases the risk. Often the abnormal gene in autosomal recessive diseases codes for enzymatic proteins.
Which one of the following processes can inactivate a gene?
Select one:
1. Unwinding of DNA strands
2. Uncoiling of chromosome
3. Methylation
4 .Condensation
5. Crossing over
Methylation
DNA methylation is a source of epigenetic modifications.
Which of the following genetic variants of Down’s syndrome shows less cognitive impairment and milder
features than other variants?
Select one:
1. Mosaicism
2. Full trisomy of chromosome 21
3. Duplication of a portion of chromosome 21
4. Both translocation and mosaicism
5. Robertsonian translocation
Mosaicism
Mosaics have a milder spectrum of the malformations as not all cells bear the chromosomal aberration.
In which of the following phases of the cell cycle does a neuron remain for the longest period of its life?
Select one:
1. G1 phase
2. G0 phase
3. G2 phase
4. S phase
5. M phase
G0 phase
While certain cells pause or freeze the cycle temporarily and stay in G0, e.g. liver cells, neurons remain in G0 indefinitely.
What percentage of the human genome is considered to be active with coding sequences?
Select one:
1. 20
2. 2
3. 30
4. 40
5. 10
2%
The proportion of coding and noncoding DNA within genomes varies widely among organisms. More than
98% of the human genome does not encode protein sequences, including most sequences within introns
and most intergenic DNA.
Which of the following steps is NOT a part of polymerase chain reaction (PCR)?
Select one:
1. Extending primers in opposite directions
2. Vector based replication of DNA
3. Denaturing DNA by heat
4. Annealing DNA by cooling
5. Amplifying copies of DNA
Vector based replication of DNA
The PCR technique has three steps. A. Double-stranded genomic DNA is denatured by heat into single stranded DNA. The reaction is then cooled to favour DNA annealing, and the primers bind to their target DNA. B. DNA polymerase is used to extend the primers in opposite directions using the target DNA as a template. After one cycle, there are two copies of double-stranded DNA, after two cycles there are four
copies, and this number rises exponentially with the number of cycles. C. The cycling is set to produce
necessary number of amplifications. Note that the vector-based replication is used for DNA cloning, not
PCR.
Which of the following pairing among nucleotides does not occur in human DNA sequences?
Select one:
1. AT pair
2. GC pair
3. TG pair
4. CG pair
5. TA pair
TG pair
Each strand of DNA is made up of a deoxyribose-phosphate backbone and a series of purine (adenine (A) and guanine (G)) and pyrimidine (thymine (T) and cytosine (C)) bases of the nucleic acid. The length of
DNA is generally measured in numbers of base-pairs (bp). Each nucleotide is a base joined to a sugar phosphate unit. The two strands of DNA are held together by hydrogen bonds between the bases. There
are only four possible pairs of nucleotides - TA, AT, GC and CG. TG pairing is not possible.
Which of the following aminoacids constitute the initiation sequence of protein translation?
Select one:
1. Tyrosine
2. Isoleucine
3. Threonine
4. Valine
5. Methionine
Methionine
Translation includes three steps - initiation, elongation and termination. The ribosome contains two sites:
Peptidyl P site where methionine containing tRNA initially binds and aminoacyl A site where each new
incoming tRNAs with activated amino acids can bind. In elongation step, amino acids are added one by one
in a sting like fashion to produce proteins. Chain termination is signaled by one of the three codons UAA, UGA or UAG.
Equatorial alignment of chromosomes is seen in which of the following phases of cell division?
Select one:
1. Interphase
2. Anaphase
3 .Telophase
4. Prophase
5. Metaphase
Metaphase
In metaphase, the chromosomes are aligned at the metaphase plate (a plane that is equally distant from
the two spindle poles) - equatorial alignment.
In which of the following conditions chromosomal duplication is seen?
Select one:
1. Cri-du-chat Syndrome
2. Foetal Alcohol Syndrome
3 .Turner’s Syndrome
4. Reye’s Syndrome
5. Trisomy 21
Trisomy 21
Reye’s and FAS are not chromosomal disorders. Cri-du-chat is a deletion syndrome while Turner’s is a
monosomy with non-disjunction (no duplication).
Which of the following phenomena takes place during interphase?
Select one:
1. Preparation for cell division
2. Cell division
3. Quiescence
4. Cell union
5. Nuclear division
Preparation for cell division
Cell division is a process by which cells reproduce “ here, a sequence of steps enable the replicated genetic material in a parent cell to be equally distributed to two daughter cells. Before a dividing cell enters mitosis, it undergoes a period of growth called interphase. Interphase is the ‘holding’ stage between two successive cell divisions. In this stage, the cell replicates its genetic material and organelles in preparation for division.
It is the longest phase, and all steps in cell cycle except stage (M) together constitute interphase.