Genetic disorder - Quiz
Genetic disorder
  • 1. Which chromosome carries the mutations responsible for Y-linked disorders?
A) X chromosome
B) Y chromosome
C) Mitochondrial DNA
D) Autosomal chromosome
  • 2. Who can be affected by Y-linked disorders in humans?
A) Only children of both sexes
B) Both males and females
C) Only females
D) Only males
  • 3. What is the primary reason females cannot be affected by Y-linked disorders?
A) Mitochondrial DNA prevents it
B) They have two X chromosomes
C) They do not possess Y-allosomes
D) They have protective genes
  • 4. What is a common clinical outcome of well-known Y-linked disorders?
A) Obesity
B) Infertility
C) Heart disease
D) Diabetes
  • 5. How is mitochondrial inheritance transmitted?
A) Exclusively from the mother
B) Exclusively from the father
C) Randomly from either parent
D) Equally from both parents
  • 6. Which cellular component is contributed only by the egg cell to the embryo?
A) Golgi apparatus
B) Mitochondria
C) Nuclear DNA
D) Ribosomes
  • 7. Which of these is mentioned as an example of a mitochondrial disorder?
A) Heart disease
B) Down syndrome
C) Leber's hereditary optic neuropathy
D) Asthma
  • 8. What causes the vast majority of mitochondrial diseases?
A) Mitochondrial DNA mutations
B) Environmental factors
C) Nuclear gene defects
D) Y-linked mutations
  • 9. What inheritance pattern do most diseases caused by nuclear gene defects follow?
A) Y-linked
B) Mitochondrial
C) Autosomal recessive
D) Autosomal dominant
  • 10. What factors contribute to multifactorial disorders?
A) Multiple genes and environmental factors
B) A single genetic mutation
C) Only lifestyle choices
D) Only chromosomal abnormalities
  • 11. Which of these is classified as a multifactorial disorder?
A) Heart disease
B) Y-linked infertility
C) Leber's hereditary optic neuropathy
D) Trisomy 21
  • 12. Why is it difficult to determine the risk of inheriting multifactorial disorders?
A) They lack a clear-cut pattern of inheritance
B) They only occur in one generation
C) They are caused by a single known gene
D) They are always caused by external trauma
  • 13. What does the 'genotype-first' approach involve?
A) Identifying clinical manifestations before genetic variants
B) Focusing only on environmental factors
C) Identifying genetic variants before clinical manifestations
D) Ignoring genetic variants entirely
  • 14. What defines a chromosomal disorder?
A) A combination of multiple genes
B) An infection of the DNA
C) A missing, extra, or irregular portion of chromosomal DNA
D) A single gene mutation
  • 15. What is the genetic cause of Trisomy 21?
A) An extra copy of chromosome 21
B) A mitochondrial mutation
C) A missing chromosome 21
D) A structural mutation on chromosome 21
  • 16. How many mutated gene copies are required for an autosomal dominant disorder to manifest?
A) Two
B) Three
C) One
D) Four
  • 17. What is the typical inheritance pattern regarding parents for autosomal dominant disorders?
A) Only the mother is affected
B) One affected parent
C) Two affected parents
D) Neither parent is affected
  • 18. What is the probability that a child will inherit an autosomal dominant mutation from an affected parent?
A) 75%
B) 100%
C) 50%
D) 25%
  • 19. What term describes the phenomenon where an individual inherits a mutation but does not develop the disease?
A) Reduced penetrance
B) Autosomal recessive
C) Genetic drift
D) Congenital anomaly
  • 20. What is another common name for birth defects?
A) Penetrance factors
B) Congenital anomalies
C) Autosomal mutations
D) Hereditary markers
  • 21. Which of these is an autosomal dominant condition?
A) Hemophilia A
B) Neurofibromatosis type 1
C) Albinism
D) Phenylketonuria
  • 22. Does having a mutation for an autosomal dominant disorder guarantee the development of the disease?
A) Only if both parents are affected
B) Yes, always
C) No, due to reduced penetrance
D) Only if the mutation is on the X chromosome
  • 23. Which of the following is classified as an autosomal dominant disorder?
A) Fragile X syndrome
B) Acute intermittent porphyria
C) Down syndrome
D) Turner syndrome
  • 24. What is the primary cause of a genetic disorder?
A) Abnormalities in the genome
B) Contracting a virus
C) Poor nutrition during childhood
D) Exposure to harmful radiation
  • 25. Which type of genetic disorder is most common?
A) Monogenic
B) Chromosome abnormality
C) Polygenic
D) Mitochondrial
  • 26. What is the approximate number of known genetic disorders?
A) Over 6,000
B) Under 1,000
C) Around 2,000
D) Exactly 500
  • 27. How many genetic disorders are currently treatable?
A) Less than 100
B) Exactly 5,000
C) More than 600
D) All known disorders
  • 28. Which mutation type is associated with certain hereditary cancer syndromes?
A) BRCA mutations
B) Y-linked mutations
C) Mitochondrial mutations
D) X-linked mutations
  • 29. What is another term for a single-gene disorder?
A) Rare disorder
B) Acquired disorder
C) Monogenic disorder
D) Polygenic disorder
  • 30. What is the example provided for a typical dominant disorder that can be lethal in cases of double inheritance?
A) Sickle cell anemia
B) Achondroplasia
C) BRCA syndrome
D) Metabolic disorder
  • 31. How many mutated copies of a gene are required for an autosomal recessive disorder to affect a person?
A) Three
B) One
C) Two
D) Four
  • 32. What is the risk of having an affected child for two unaffected carriers of an autosomal recessive disorder?
A) 25%
B) 100%
C) 75%
D) 50%
  • 33. Which of the following is an example of an autosomal recessive disorder?
A) Cystic fibrosis
B) Rett syndrome
C) Hemophilia A
D) X-linked hypophosphatemic rickets
  • 34. Which syndrome is considered X-linked dominant and typically fatal in males?
A) Phenylketonuria
B) Rett syndrome
C) Sickle cell disease
D) Albinism
  • 35. Which condition is an example of an X-linked recessive disorder?
A) Thalassaemia
B) Tay-Sachs disease
C) Albinism
D) Hemophilia A
  • 36. What can lead to the manifestation of X-linked recessive conditions in females?
A) Higher X chromosome dosage
B) Skewed X-inactivation
C) Increased mutation rate
D) Autosomal inheritance
  • 37. What condition allows boys with X-linked dominant disorders to exhibit milder symptoms similar to females?
A) Turner syndrome
B) Incontinentia pigmenti
C) Aicardi syndrome
D) Klinefelter syndrome
  • 38. Which procedure involves inserting needles into the uterus to detect substances?
A) Gene therapy
B) Ultrasound
C) Physical therapy
D) Amniocentesis
  • 39. What type of symptoms does muscular dystrophy typically cause?
A) Cognitive decline
B) Developmental delays
C) None, it is asymptomatic
D) Physical symptoms
  • 40. What was the earliest known genetic condition found in a hominid?
A) Muscular dystrophy
B) Huntington's disease
C) Amelogenesis imperfecta
D) Down syndrome
  • 41. In which fossil species was the earliest genetic condition found?
A) Homo sapiens
B) Neanderthals
C) Australopithecus
D) Paranthropus robustus
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