Non Mendelian Inheritance I,II Quiz
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Questions and Answers

Which of the following is a key clinical feature of Fragile X syndrome?

  • Skewed X inactivation
  • Triple repeats in the FMR1 gene (correct)
  • Mitochondrial inheritance
  • Genomic imprinting

    • What is the biologic mechanism responsible for genomic imprinting?

  • Mitochondrial inheritance
  • Triple repeats in the FMR1 gene
  • X inactivation
  • DNA methylation (correct)

    • Which disorder is explained by genomic imprinting?

  • Fragile X syndrome
  • Prader-Willi syndrome (correct)
  • Huntington's disease
  • Snowman syndrome

    • How many mechanisms result in Prader-Willi syndrome?

    <p>2</p> Signup and view all the answers

    What is the conceptual basis of analyzing genetic and environmental interaction in the causation of disease?

    <p>Multifactorial inheritance</p> Signup and view all the answers

    Which of the following statements about mitochondrial inheritance is true?

    <p>Mitochondrial diseases can only be inherited from the mother</p> Signup and view all the answers

    What is the main reason for the high mutation rate of mtDNA compared to nuclear DNA?

    <p>Mitochondria lack DNA repair mechanisms</p> Signup and view all the answers

    Why is there variability in phenotype with mitochondrial disorders?

    <p>Variable expression of the same mutation</p> Signup and view all the answers

    Which organs are most often affected by mitochondrial diseases?

    <p>Brain and muscles</p> Signup and view all the answers

    What is the main characteristic of germline mosaicism?

    <p>Presence of different cell lines in the germline</p> Signup and view all the answers

    Which of the following is true about the incidence of pyloric stenosis in infants?

    <p>All of the above</p> Signup and view all the answers

    What is the recurrence risk for congenital pyloric stenosis in male probands from London?

    <p>12.5%</p> Signup and view all the answers

    What is the incidence of infantile autism in third-degree relatives?

    <p>0.3%</p> Signup and view all the answers

    What is the heritability (h2) of alcoholism?

    <p>0.44</p> Signup and view all the answers

    What is the heritability (h2) of height?

    <p>0.51</p> Signup and view all the answers

    Which of the following is an example of a non-Mendelian inheritance pattern?

    <p>All of the above</p> Signup and view all the answers

    What is the main difference between Mendelian and multifactorial inheritance?

    <p>Mendelian inheritance is determined solely by genetic factors, while multifactorial inheritance is determined by genetic and environmental factors</p> Signup and view all the answers

    Which of the following is an example of a quantitative complex phenotype of a multifactorial disease?

    <p>Height</p> Signup and view all the answers

    What is the concept of heritability based on?

    <p>The degree of similarity between relatives with respect to genetic traits</p> Signup and view all the answers

    What is the threshold model of multifactorial inheritance?

    <p>Disease manifests when the liability exceeds a hypothetical threshold</p> Signup and view all the answers

    Which of the following is true about anticipation in Mendelian disorders?

    <p>Anticipation is explained by trinucleotide repeat expansion in offspring</p> Signup and view all the answers

    Which of the following trinucleotide repeat diseases is characterized by a CAG repeat in the protein coding region?

    <p>Huntington Disease</p> Signup and view all the answers

    What is the threshold number of CGG repeats in the Fragile X gene (FMR1) that is considered abnormal and associated with Fragile X syndrome?

    <p>More than 200 repeats</p> Signup and view all the answers

    What is the mechanism of loss of gene expression in Prader-Willi Syndrome and Angelman Syndrome?

    <p>Deletion</p> Signup and view all the answers

    Which of the following is true about X chromosome inactivation?

    <p>X chromosome inactivation is influenced by stochastic variation</p> Signup and view all the answers

    Which of the following is an example of a triplet repeat disorder?

    <p>Fragile X</p> Signup and view all the answers

    What is the normal range of trinucleotide repeats in Fragile X syndrome?

    <p>5-34 repeats</p> Signup and view all the answers

    Which of the following disorders is caused by genomic imprinting?

    <p>Prader-Willi syndrome</p> Signup and view all the answers

    What is the relationship between skewed X inactivation and human disease?

    <p>Skewed X inactivation can lead to disease manifestation in females carrying X-linked mutations.</p> Signup and view all the answers

    What is the difference between homoplasmy and heteroplasmy in mitochondrial inheritance?

    <p>Homoplasmy refers to the presence of a single type of mitochondrial DNA in an individual, while heteroplasmy refers to the presence of multiple types of mitochondrial DNA.</p> Signup and view all the answers

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