B2M2Q3: GENETICS

October 13,2021
KHRÔMA 2021-2022

1. It is a disease caused in whole or in part a. Prophase

by a variation or mutation of a gene. b. Anaphase
a. Chromosomal disorder c. Metaphase
b. Hereditary disorder d. Telophase
c. Somatic disorder 8. Huntington disease can be inherited
d. Genetic disorder exam if only one percent has the gene
2. Which of the following conditions for this disorder , thus the mode of
included in the Philippine NBS panel is inheritance is:
inherited in an X-linked manner? a. X-linked dominant
a. Congenital Adrenal hyperplasia b. Autosomal Recessive
(CAH) c. Autosomal dominant
b. Congenital hypothyroidism (CH) d. X-linked recessive
c. G6PD deficiency 9. A child showed signs of mental
d. MSUD retardation and was eventually
3. Which chromosomes are acrocentric, diagnosed with Fragile X syndrome.
with the centromere close to one end? What mutations in the FMR gene will
a. Chromosomes 1 and 3 you expect?
b. Chromosomes 4-12 a. Deletion
c. Chromosomes 13-15 b. Trinucleotide repeat
d. Chromosomes 16,19-20 c. Frameshift mutation
d. Insertion
4. What is the most accurate test for
determining the specific type of
albinism? 10. Which of the following is TRUE about
a. Karyotype test the prognosis of people with Down
b. Biochemical test Syndrome?
c. Antigen-antibody test a. They can lead productive lives
d. Gene test b. They do not need emotional
5. Which of the following laws enacts a support
type of public health program that c. They have an average lifespan
screens neonates for certain conditions of only 30 years old
so early treatment can be instilled and d. They are impaired for life
thereby avoiding death and mental 11. Hemophilia is a sex-linked genetic
retardation? disorder. Which statement best
a. R.A. 10152 describes its inheritance pattern?
b. R.A. 9288 a. Disorders is expressed in males
c. R.A. 7610 b. Half of the females are carriers
d. R.A. 19747 c. Only females are affected
6. Sodium benzoate treatment for urea d. Half of the males are carriers
cycle defect can be described as 12. Which among the following statements
altering the is TRUE regarding mitochondrial
a. mRNA inheritance?
b. Genotype a. Threshold effect means that the
c. Enzyme minimum number of mutant
d. Phenotype mtDNA must be present in a cell
7. What is the phase of mitosis where or tissue before oxidative
duplicated chromosomes condense into dysfunction gives rise to a
microscopically visible bodies? disease.

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 B2M2Q3: GENETICS
October 13,2021
KHRÔMA 2021-2022

b. Thousands of copies of mtDNA a. Pharmacologic Therapy

are found in each mitochondrion b. Replacement Therapy
and its deleterious mutations c. Physiologic therapy
affect all of these copies hence, d. Surgical intervention
individuals may harbor both 17. Looking at the karyotype of this patient,
wild-type and mutant mtDNA. you know she has Patau syndrome
c. Mothers transmit mtDNA to all a. 46, XX, t(18:18)(q10:10)
their offsprings and transmit the b. 47, XY, +13
DNA further to their progeny. c. 47, XY, +21
d. The expression of disorders d. 47, XX, +18
resulting from mutations in 18. A 38-year-old mother came into your
mtDNA is invariable since the clinic because she is pregnant with her
proportion of the normal and first baby. She is afraid that she might
mutant mtDNA in daughter cells have translocation type of Trisomy
is constant. 21.Upon further questioning, you noted
that she has a positive family history of
the said genetic disorder. What will you
13. Which molecular method would allow or advise as prenatal diagnosis?
permit the study of hundreds or a. Abdominal ultrasound
thousands of genes and their sequence b. Transvaginal ultrasound
at the same time? c. MRI
a. Next Generation Sequencing d. Genetic screening for carrier
b. Fluorescence in situ state
hybridization 19. What is the rationale for newborn
c. Sanger sequencing screening for an inborn error of
d. Comparative genomic metabolism?
hybridization a. The condition exists in the
14. What happens in males during meiosis Philippine population.
that does not occur in females? b. Inborn errors as a whole are a
a. Each primary spermatocyte significant cause of morbidity
forms four functional spermatids and mortality.
that develop into sperm c. Early treatment can be given
b. The first meiotic division results before damage is irreversible.
in two daughter cells d. There is a highly specific and
c. Chromosome pairing, crossing sensitive test for the condition
over and segregation 20. Which of the following statements would
d. Recombination occurs more be TRUE?
frequently in male meiosis than a. Genes account for majority of
in female the human DNA.
15. During the early cleavage division of a b. Chromosomes are only visible
zygote, nondisjunction occurred. This when the cell is about to
will usually result in: undergo cell division.
a. Single gene disorder c. All genetic mutations are
b. Chromosomal mosaicism inherited.
c. Monosomy d. All DNA code for proteins.
d. Trisomy 21. Which of the following is a result when
16. Giving special milk for PKU is an an individual carries two different cell
example of: lines from a single zygote ?

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 B2M2Q3: GENETICS
October 13,2021
KHRÔMA 2021-2022

a. Duplication progeny and may give rise to

b. Insertion inherited disease.
c. Inversion c. Genome mutations result from
d. Mosaicism rearrangement of genetic
22. What pattern of inheritance is shown in material and give rise to visible
the pedigree? structural changes in
a. Autosomal dominant chromosome.
b. Sex-linked recessive d. Mutations that affect the germ
c. Autosomal recessive cell do not cause hereditary
d. Sex-linked dominant diseases but are important in
the genesis of cancers and
23. Azukarpapi a 12 year old male was some congenital malformations.
brought to your clinic for learning 27. By which of the following methods, a
difficulties on physical exam, you noted pattern of inheritance can be traced in a
upslanted eyes with epicanthal folds, family?
single palmar crease and extra neck a. Nuclear analysis
folds. What is the most common cause b. Cytoplasm analysis
of this disorder? c. Pedigree analysis
a. Mosaicism d. Chromosomal analysis
b. Robertsonian translocation 28. Which site in the DNA molecule does
c. CFTR gene mutation RNA polymerase binding take place to
d. Meiotic nondisjunction initiate the transcription process?
24. Arnold, a newborn male was noted to a. Promoter
present with a smaller than normal jaw, b. Gene operator
low set ears and rocker- bottom-feet. As c. Regulating operator
a medical student receiving the delivery, d. Operon
you know that this is a type of genetic 29. The frequency of expression of a trait in
abnormality. What genetic abnormality is an individual with appropriate genotype
being presented by the patient is termed:
a. Patau syndrome a. Penetrance
b. Trisomy 13 b. heterogeneity
c. Trisomy 21 c. pleiotropy
d. Trisomy 18 d. expressitivity
25. A process germ cells undergo wherein 30. What is considered the most important
there is reduction of the diploid set of tool for screening a patient's risk for
chromosomes into haploid number developing a genetic disorder?
a. mitosis a. Physical examination
b. fertilization b. DNA testing
c. dysjunction c. Genomic imprinting
d. Meiosis d. Family history
26. Which of the following sentences is 31. Paternal nondisjunction is responsible
TRUE? for nearly 50% of 47, XXY but only 5 to
a. Mutations that arise in somatic 10% of cases of trisomies 13, 14, 15, 21
cells are transmitted to the and 22. This shows that:
progeny and may give rise to a. The source of trisomy and
inherited disease. monosomy is mostly, if not all,
b. Mutations that affect the germ associated with alterations in
cell are transmitted to the genetic recombination

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October 13,2021
KHRÔMA 2021-2022

b. There is considerable variability c. Dopachrome tautomerase

in the meiotic stage of origin. d. Tyrosinase
c. Nondisjunction at maternal 37. Pathophysiology of vision problems in
meiosis I appears to be the albinism is due to abnormal
most common source of trisomy. development in :
d. Trisomies show remarkable a. Cornea
variation in parental origin. b. Lens
32. This is the most important etiologic c. Ciliary body
factor in congenital chromosomal d. Retina
disorders. 38. Which of the following statements is
a. Low socioeconomic status TRUE of the human genome?
b. Maternal nutrition a. The genome is estimated to
c. Increasing maternal age contain about 10,000 genes
d. Early age of menarche b. It is divided into 23 different
33. At which stage of mitosis is arrest done chromosomes
to photograph banded chromosomes? c. Genes account for 50% of DNA
a. Telophase d. An adult human somatic cell has
b. Resting stage a complete genome of three
c. Anaphase billion base pairs of DNA
d. Metaphase
34. The tendency to nondisjunction in 39. A child was brought to the geneticist's
elderly women has been attributed to clinic for regular check-up. It was
this factor. noticed that the child has short stature,
a. Alkylating agents obese with small hands and feet,
b. Induction of chromosomal hypotonic and has mental retardation.
mutations The geneticist noted a genomic
c. Site specificity of viral infections imprinting disorder which involves:
d. Peculiarity of oogenesis a. Deletion in the short arm of
35. What is the significance of a horizontal chromosome 7
dashed line drawn between a male and b. Deletion of band q12 in the
a female? short arm of chromosome 15
a. The individuals have a casual c. Deletion in the long arm of
sexual relationship and are not chromosome 7
married. d. Deletion of the band q12 in the
b. The two siblings are both long arm of chromosome 15
adopted. 40. Which demographic information could
c. The individuals have a have an important influence on
third-degree (or later) blood susceptibility to disorders that have a
relationship with each other. strong genetic component?
d. Neither of the two individuals is a. Income
a first- or second-degree relative b. Education
of the proband. c. Ethnicity
36. What enzyme is responsible for d. Nutrition status
converting tyrosine to dopamine and 41. Refers to the interpretation of a mosaic
then to dopaquinone which eventually Turner syndrome:
forms the pigment, melanin? a. 45,XO/46,XX
a. Monoamine oxidase b. 47, XXX
b. P Proteinase c. 45,XY

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 B2M2Q3: GENETICS
October 13,2021
KHRÔMA 2021-2022

d. 46, X0 46. Which of these drugs is a nucleic acid

42. Which of the following is true regarding analogue that may cause chromosomal
the risk of a woman giving birth to a aberrations?
baby with Down syndrome? a. Cyclophosphamide
a. The risk at 30 years old is 1:112 b. Cisplatin
b. The risk is higher in those less c. Cytarabine
than 15 years old d. Chlorpromazine
c. There is no risk at 35 years old 47. Which of the following best describes
d. After the age of 40, the risk the pattern of inheritance for
further increases Oculocutaneous Albinism?
43. Which of the following best exemplifies a. The children have one out of
this autosomal dominant inherited four chances of getting albinism
condition wherein an individual is when two people are carriers of
usually born with a white forelock. The the gene.
underlying skin is depigmented and b. The child has one out of four
there are usually white macules on the chances of getting 2 copies of
face, trunk, and extremities? the normal gene but still
a. Piebaldism become a carrier.
b. Nettleship-Falls type OA c. The trait usually affects the
c. Waardenburg syndrome parents but the siblings may not
d. Chediak-Higashi syndrome show the disease.
44. If there is a family history of genetic d. The recurrence risk is 50% for
disorders, knowing the gender of an each birth.
unborn child can be important because: 48. Your blood type is an example of your:
a. male children are more likely to a. Phenotype
have autosomal defects show b. Genotype
up in their phenotypes c. Karyotype
b. male children are more likely to d. Chromotype
have X-linked traits show up in 49. What is the primary purpose of a
their phenotype pedigree?
c. female children are more likely a. To establish which person within
to have autosomal defects show a kindred is responsible for
up in their phenotypes introducing a genetic mutation
d. female children are more likely into the family
to have X-linked traits show up b. To establish which person within
in their phenotype a kindred is responsible for
45. Emanuella Ariana a newborn girl is bringing the family to the
noted to present with decreased femoral attention of a genetics
pulses, lymphedema of hands and feet, professional.
webbed neck, widely spaced nipples, c. To determine the specific risk of
short fourth metacarpals and nail any one family member to
dysplasia. What hormone therapy will develop or pass on a
the child need in the future? genetic-based health problem.
a. Progestin d. To identify family members'
b. Progesterone places within a kindred and
c. Testosterone describe their medical history.
d. Estrogen

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 B2M2Q3: GENETICS
October 13,2021
KHRÔMA 2021-2022

50. This trinucleotide-repeat disorder has

expansions occurring in the noncoding
regions during oogenesis.
a. Spinocerebellar Ataxia type 1
b. Fragile X-Syndrome
c. Huntington's Disease
d. Spinobulbar Muscular Atrophy