Genetic Disorders Quiz
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Questions and Answers

What is the role of the Myotonic Dystrophy Protein Kinase enzyme?

  • Regulation of cell growth
  • Maintenance of skin pigmentation
  • Inhibition of myosin phosphatase (correct)
  • Control of cardiac rhythm

    • What is the characteristic of the congenital form of Myotonic Dystrophy?

  • Testicular atrophy in males
  • Muscle weakness
  • Cardiac arrhythmias
  • Open triangle shape (correct)

    • What is the location of the NF1 gene?

  • Short arm of chromosome 3
  • Long arm of chromosome 3
  • Long arm of chromosome 17 (correct)
  • Short arm of chromosome 17

    • What is the protein produced by the NF1 gene?

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

    What is the characteristic skin feature of Neurofibromatosis I?

    <p>Pale tan, or light brown discoloration</p> Signup and view all the answers

    What type of mutation is associated with Myotonic Dystrophy?

    <p>CTG repeat expansion</p> Signup and view all the answers

    What is the characteristic of an autosomal recessive gene?

    <p>Two copies of the gene must be present for the disease or trait to develop</p> Signup and view all the answers

    What is the main characteristic of achondroplasia?

    <p>Disorder of bone growth that prevents the change of cartilage to bone</p> Signup and view all the answers

    What is the defective gene in achondroplasia?

    <p>FGR 3</p> Signup and view all the answers

    What is the clinical feature of achondroplasia?

    <p>Short limbs relative to trunk</p> Signup and view all the answers

    What is the treatment option for achondroplasia?

    <p>Medication with bone growth or hormone therapy</p> Signup and view all the answers

    What is the clinical feature of hypercholesterolemia?

    <p>Impaired uptake of LDL cholesterol</p> Signup and view all the answers

    What is the gene defect associated with Sonic hedgehog gene defects?

    <p>SHH gene mutation</p> Signup and view all the answers

    In HUNTINGTON DISEASE, what type of abnormalities is commonly observed?

    <p>Psychiatric abnormalities</p> Signup and view all the answers

    What is the role of Sonic Hedgehog protein in embryonic development?

    <p>Instructs in brain hemisphere separation</p> Signup and view all the answers

    What specific brain abnormality is commonly seen in individuals with HOLOPROSENCEPHALY?

    <p>Reduced interhemispheric fissure</p> Signup and view all the answers

    What is the significance of the CAG Trinucleotide Repeats in Huntington's Disease?

    <p>Causes abnormal protein aggregation</p> Signup and view all the answers

    What is the main clinical feature of Huntington's Disease that manifests in 90% of patients?

    <p>Psychiatric chorea</p> Signup and view all the answers

    What is the role of Fibrillin 1 in the body?

    <p>Encodes a microfibril-forming connective tissue protein</p> Signup and view all the answers

    Which gene defect is associated with Marfan Syndrome?

    <p>FBN 1</p> Signup and view all the answers

    What is a common clinical feature of Marfan Syndrome related to the heart?

    <p>Mitral valve prolapse</p> Signup and view all the answers

    Which system of the body is NOT affected by Marfan Syndrome according to the text?

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

    What is the frequent cause of death in individuals with Marfan Syndrome?

    <p>Congestive Heart Failure</p> Signup and view all the answers

    Which condition primarily affects muscles and body systems starting in adulthood?

    <p>Myotonic Dystrophy</p> Signup and view all the answers

    What is the primary genetic defect that leads to Gaucher's disease?

    <p>Mutation in the GBA gene</p> Signup and view all the answers

    What is the primary outcome of the genetic defect that leads to Gaucher's disease?

    <p>Insufficient degradation of gluco cerebroside, leading to its accumulation in the liver, spleen, and bone marrow</p> Signup and view all the answers

    What is the primary clinical feature of Gaucher's disease?

    <p>Splenomegaly, anemia, and liver dysfunction</p> Signup and view all the answers

    What is the primary genetic defect that leads to hemochromatosis?

    <p>Mutation in the HFE gene</p> Signup and view all the answers

    What is the primary outcome of the genetic defect that leads to hemochromatosis?

    <p>Enhanced absorption of dietary iron, leading to its accumulation in visceral organs</p> Signup and view all the answers

    What is the most common manifestation of untreated hemochromatosis?

    <p>Skin pigmentation and arthritis</p> Signup and view all the answers

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