PHT 413: GENETIC DISORDERS

Alabado, Welkins
Anastacio, Ana Marize
Aviso, Jewel
Balicao, Crisha Fae



1. What is this group of disorder that certain disease does not follow the Mendelian principle?
A. Single Gene Disorder with non-inheritance
B. Complex multigenic disorders
C. Chromosomal Genetic disorder
D.Genetic Disease

2.Fragile X syndrome expansion occurs during?
A.Spermatogenesis
B.Oogenesis
C.Coding
D.Non-coding

3. What disease does degenerates retinal ganglion cells?
A.Prader-Willi Syndrome
B.Angelman Syndromw
C.Fragile X syndrome
D.Leber hereditary optic neuropathy

4.Huntington disease expansion occurs during?
A.Spermatogenesis
B.Oogenesis
C.Coding
D.Non-coding

5.Myotonic dystrophy expansion occurs in?
A.Spermatogenesis
B.Oogenesis
C.Coding
D.Non-coding

6.This causes a mitochondrial dysfunction
A.aggregate protein
B.abnormal protein
C.folded protein
D.misfolded protein

7.This trigger the unfolded-protein stress response and apoptosis.
A.aggregate protein
B.abnormal protein
C.folded protein
D.misfolded protein

8. It is a accumulation of aggregated protein
A.Disease caused by Trinucleotide-repeat mutations.
B.Disease caused by mutations in mitochondrial genes.
C.Disorders associated with genomic imprinting.
D. Disease Disorders with gonadal mosaicism.

9. Second most common cause of mental retardation,after Down syndrome.
A.Fragile X syndrome
B.Turner Syndrome
C.Huntington Syndrome
D.Prader-Willi Syndrome

10.It interferes in the function of normal protein.
A.aggregate protein
B.abnormal protein
C.folded protein
D.misfolded protein

11. In the first generation all males are normal and all female are affected. Next generation, all
males who inherit the X with full mutation are affected however, only 50% of females who inherit
the full mutation are affected and only mildly.
A. 1
st
statement is true and 2
nd
is false
B. 1
st
statement is false and th 2
nd
is true
C. both of the statement is true
D.both of th statetement is false

12. Leber hereditary optic neuropathy- is affected by mitochondrial DNA mutation of
G3460A,G11878A and T1AA8AC.
A.True
B.False
C.either
D.neither

13.This imprinting refers to transcriptional
silencing of the allele
A. maternal
B.paternal
C.both a and b
D.neither

14.Imprinting implies that the allele is inactivated
A. maternal
B.paternal
C.both a and b
D.neither

15. Where does imprinting occurs?
A.mitosis
B.meiosis
C.sperm
D.both A and B

16. If the child inherited two copies of maternal allele what is the disease associated?
A.Angelman Syndrome
B.Turner Syndrome
C.Huntington Syndrome
D.Prader-Willi Syndrome

17.If the child inherited two copies of paternal allele what is the disease associated?
A.Angelman Syndrome
B.Turner Syndrome
C.Huntington Syndrome
D.Prader-Willi Syndrome

18. The maternal allele is almost exclusively the active one in this site;
hippocampus and cerebellum, the
A. hypothalamus
B.hippocampus
C.both a and b
D.none of the above
19.Stabismus means?
A.crossing of the eyes
B.crossing of the hands
C.both a and B
D.none of the above

20. Gonadal mosaicism results from a mutation that occurs postzygotically during
A.late embryonic development
B.before embryonic development
C.after embryonic development
D.early embryonic development
21.Other term for gonadal mosaicism
A.germ cell
B.germ line
C.germ tissue
D.germ site
22.Huntington Disease expansion occurs in
A.Spermatogenesis
B.Oogenesis
C.Coding
D.Non-coding

23. What is this disease that is caused by either mutation on coding and non-coding?
A.Disease caused by Trinucleotide-repeat mutations.
B.Disease caused by mutations in mitochondrial genes.
C.Disorders associated with genomic imprinting.
D. Disease Disorders with gonadal mosaicism.

24.Germ line mosaicism is transmitted through
A.oognesis
B.spermatogenesis
C.mutant gamete
D. none of the above

25.Fragile X syndrome expansion occurs in?
A.Spermatogenesis
B.Oogenesis
C.Coding
D.Non-coding

26. Complex Multigenic Disorder is also known as?
a. Polyclonal disorder
b. Monoclonal disorder
c. Multifactorial disorder
d. NOTA

27. Complex Multigenic Disorder occurs if?
a. Many polymorphism
b. Many monoclonal genes
c. A and B
d. NOTA

28. Phenotype refers to?
a. Physically expressed trait
b. Genetically expressed trait
c. Cross linking
d. AOTA

29. Is complex multigenic disorder inherited?
a. yes
b. no
c. in some cases
d. maybe

30. Which of the following is the best example of CMD?
a. Asthma
b. Diabetes
c. Cleft Palate
d. AOTA

31. This is cause by allergens and environmental factors.
a. Asthma
b. Echzema
c. Diabetes
d. Rhinitis

32. Strongest identifiable predisposing factor for this condition is IgE-mediated response.
a. Rhinitis
b. Flu
c. Asthma
d. Parasitic infection

33. Type of diabetes mellitus that appears to be an autoimmune disease.
a. Type 1
b. Type 2
c. Ketone-resistant DM
d. B and C

34. Also known as juvenile onset DM.
a. Type 1
b. Type 2
c. Ketone-resistant DM
d. B and C

35. Cells that is being affected by the DM
a. Islet of Langerhans
b. Insulin
c. Glucagon
d. Acinar
36. Inadequate level of insulin in the blood.
a. Type 1 DM
b. Type 2 DM
c. Hypoglycemia
d. A and B

37. Diabetes that cause is not clear
a. Type 1
b. Type 2
c. Ketone-resistant DM
d. B and C

38. Insulin resistance
a. Type 1
b. Type 2
c. Ketone-resistant DM
d. B and C

39. Disorder that involves the chromosomes
a. Multifactorial disorder
b. Complex Multigenic Disorder
c. Chromosomal disorder
d. Chromosomal deficiency

40. Cytogenetic defects involve chromosomes except
a. Down Syndrome
b. Klinefelters Syndrome
c. Turner Syndrome
d. AOTA

41. Caused by Trisomy 21
a. Down Syndrome
b. Klinefelters Syndrome
c. Turner Syndrome
d. NOTA

42. Rare form of Down Syndrome
a. Translocation
b. Klinefelters Syndrome
c. Turner Syndrome
d. Mosaic Syndrome

43. Flattening of the back of the head is present in what disorder?
a. Down Syndrome
b. Klinefelters Syndrome
c. Turner Syndrome
d. AOTA

44. Tiny piece of chromosome 22 is missing
a. Klinefelters syndrome
b. Down Syndrome
c. Criduchat syndrome
d. NOTA

45. Tiny piece of chromosome 22 is missing
a. 22q11.2 Deletion Syndrome
b. Down Syndrome
c. Criduchat syndrome
a. Klinefelters syndrome

46. Also known as Di George Syndrome
a. 22q11.2 Deletion Syndrome
b. Down Syndrome
c. Criduchat syndrome
d. Mosaic syndrome

47. Results in wide spectrum of phenotypic consequences.
a. 22q11.2 Deletion Syndrome
b. Down Syndrome
c. Criduchat syndrome
d. Mosaic syndrome

48. Chromosome 21 was overexpressed in tissue
a. 22q11.2 Deletion Syndrome
b. Down Syndrome
c. Criduchat syndrome
d. Mosaic syndrome

49. Substances that makes up the trait of an individual
a. Gene
b. Chromosome
c. DNA
d. AOTA

50. Rare form of Down Syndrome
a. Translocation
b. Klinefelters Syndrome
c. Turner Syndrome
d. Mosaic Syndrome

51. This complex material utilizes the parents characteristics?
A. Gene C. Amorph
B. Phenotype D. DNA
52. A diploid type of cell which capable to multiply with complete genome?
A. Germinal Cell C. Somatic Cell
B. Cancer Cell D. none of the Above
53. In born genetic defect also known as?
A. Congenital defect C. Marfan Syndrome
B. Familial Disorder D. Fibrine defect
54. True or False. Mutated gene cant be pass thru the daughter cell?
A. True
B. False
55. This condition caused by the disturbance of chromosome integration?
A. Genome Mutation C. Familial Hypercholesterolemia
B. Chromosome Mutation D. Marfan Syndrome
56. A type of Mendelian disorder that heterozygous and homozygous parent characteristics can pass
thru the daughter organism?
A. X-Linked Disorder C. Autosomal Recessive
B. Autosomal Dominant
57. Chances of acquiring Autosomal Dominant Disorder?
A. 50% C. 75%
B. 25%
58. Connective tissue related disorder that causes scaffolding?
A. Marfan Syndrome C. Neurofibromatosis
B. Familial Hypercholesterolemia D. RecklingHausen Disease
59. Mutation of LDL receptor can cause?
A.Marfan Syndrome C. Neurofibromatosis
B. Hypercholesterolemia D. RecklingHausen Disease

60. What gene does MarfanSyndrome affects?
A.Somatic Gene C. Mutated Gene
B.Germinal Gene D. Fibrine Gene
61. Familial type of neoplasm which 5% of all cancer belong, and can be pass thru generations?
A.Marfan Syndrome C. Neurofibromatosis
B. Hypercholesterolemia D. RecklingHausen Disease

62. Also known as Neurofibromatosis type 1?
A. Recklinghausen Disease C. Acoustic Neurofibromatosis
B. Marfan Syndrome D. Neurofibromatosis type 2
63. Also known as Acoustic Neurofibromatosis?
A.Recklinghausen Disease C. Acoustic Neurofibromatosis
B.Marfan Syndrome D. Neurofibromatosis type 2

64. Pathogenesis: Decrease amount of substrate?
A. Autosomal Recessive disorder C. X-Linked Disorder
B. Autosomal Dominant Disorder
65. Impaired distribution of melanin in the body?
A. Albinism C. Adenoma
B. Melanoma D. none of the above
66. Macromolecule maldigestion of cell?
A. Lysosomal Storage disease C. Adenoma
B. Albinism
67. This may cause abnormal production of uric acid and behavioral abnormalities? Ans.
A. Albinism C. Neurofibromatosis
B. Lesch-Nyhan Syndrome D. Galactosemia
68. Impaired digestion of galatose?
A. Albinism C. Neurofibromatosis
B. Lesch-Nyhan Syndrome D. Galactosemia
69. This type of autosomal disease manifest in complete penetrance?
A.Autosomal Recessive disorder C. X-Linked Disorder
B.Autosomal Dominant Disorder
70. A disorder that affect transcription, mRNA, and translation processes of DNA?
A. Mendelian Disorder C. Gene Anomaly
B. Chromosomal Disorder
71. Genetic Damage that affects the rearrangement of chromosomes?
A. Chromosome Mutation C. Genome
B. Viral Mutation
72. A protein foreign substance that infest the living cell?
A. Virus C. Bacterial Cell
B. Cancer Cell
73. A malignant cell that doesnt have function?
A. Virus C. Bacterial Cell
B. Cancer Cell

74. A haploid genomecell that belongs to the parent organism that require other haploid genomecell?
A. Germinal Cell C. Viral Cell
B. Somatic Cell

75. This substance is capable to transmit information about the parents characteristics to the
offspring?
A. DNA C. Chromosome
B. RNA

76. It in involves exponential amplification of DNA. By using appropriate DNA polymerases and thermal
cycling, the target DNA is greatly amplified, producing millions of copies of the DNA sequence
between the two primer sites.
a. RNA Analysis
b. PCR analysis
c. Southern Blot
d. GWAS

77. It is critical in several areas of molecular diagnostics and it is most important in the detection and
quantification of RNA viruses.
a. RNA analysis
b. PCR analysis
c. Southern Blot
d. GWAS

78. The study of heritable chemical modification of DNA or chromatin that does not alter the DNA
sequence itself.
a. PCR analysis
b. Southern Blot
c. GWAS
d. Epigenetics

79. Involves hybridization of radiolabeled sequence-specific probes to genomic DNA that has been first
digested with a restriction enzyme and separated by gel electrophoresis.
a. PCR analysis
b. Southern Blot
c. GWAS
d. Epigenetics

80. A variety of PCR-based technologies that use _______ indicators can detect the presence or
absence of mutations in real time.
a. Fluorophore
b. UV
c. DNA
d. Chromosome

81. Large cohorts of patients with and without a disease (rather than families) are examined across the
entire genome for genetic variants or polymorphisms that are over-represented in patients with the
disease.
a. PCR analysis
b. Southern Blot
c. GWAS
d. Epigenetics

82. It uses DNA probes that recognize sequences specific to particular chromosomal regions.
a. PCR analysis
b. Southern Blot
c. GWAS
d. Fluorescence in Situ Hybridization
83. A male hypogonadism that occurs when there are two or more X chromosomes and one or more Y
chromosomes.
a. Klinefelter Syndrome
b. Turner Syndrome
c. Addisons Disease
d. Hypothyroidism

84. It is the most common sex chromosome abnormality in females.
a. Klinefelter Syndrome
b. Turner Syndrome
c. Addisons Disease
d. Hypothyroidism

85. The most severely affected patients generally present during infancy with edema of the dorsum of the
hand and foot due to lymph stasis, and sometimes swelling of the nape of the neck.
a. Klinefelter Syndrome
b. Turner Syndrome
c. Addisons Disease
d. Hypothyroidism

86. It implies the presence of both ovarian and testicular tissue.
a. Hermaphrodite
b. Pseudohermaphrodite
c. AOTA
d. NOTA

87. It represents a disagreement between the phenotypic and gonadal sex.
a. Hermaphrodite
b. Pseudohermaphrodite
c. AOTA
d. NOTA

88. It is the single most important cause of primary amenorrhea, accounting for approximately one third of
the cases.
a. Hermaphrodite
b. Pseudohermaphrodite
c. Turner Syndrome
d. Klinefelter Syndrome


89. The classic pattern is associated with a 47,XXY karyotype.
a. Hermaphrodite
b. Pseudohermaphrodite
c. Turner Syndrome
d. Klinefelter Syndrome

90. It states that only one of the X chromosomes is genetically active. The other X of either maternal or
paternal origin undergoes heteropyknosis and is rendered inactive. Inactivation of either the maternal
or paternal X occurs at random among all the cells of the blastocyst on or about day 16 of embryonic
life and inactivation of the same X chromosome persists in all the cells derived from each precursor
cell.
a. Lyon Hypothesis
b. Myon Hypothesis
c. Kline Hypothesis
d. Nyon Hypothesis

B. True or False
91. Patients with Klinefelter syndrome have a higher risk for breast cancer, extragonadal germ cell
tumors, and autoimmune diseases such as systemic lupus erythematosus.
a. TRUE
b. FALSE

92. Molecular assays are not sensitive.
a. TRUE
b. FALSE

93. Prenatal genetic analysis is usually performed on peripheral blood lymphocytes.
a. TRUE
b. FALSE

94. In array CGH the test DNA and a reference DNA are labeled with two different fluorescent dyes (most
commonly Cy5 and Cy3, which fluoresce red and green, respectively).
a. TRUE
b. FALSE

95. Mutations that affect the length of DNA can also be detected by PCR analysis.
a. TRUE
b. FALSE
C.
A. Prenatal genetic analysis B. Postnatal genetic analysis
96. Abnormal levels of AFP, HCG, and estriol performed as the triple test
-A. Prenatal Genetic Analysis

97. Unexplained mental retardation and/or developmental delay
-B. Postnatal Genetic Analysis

98. A parent who is a carrier of an X-linked genetic disorder.
-A. Prenatal Genetic Analysis

99. Suspected fragile-X syndrome
-B. Postnatal Genetic Analysis

100. A parent who is a carrier of a balanced reciprocal translocation, robertsonian translocation, or
inversion
-A. Prenatal Genetic Analysis