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