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 (C)</p> Signup and view all the answers

What is the characteristic skin feature of Neurofibromatosis I?

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

What type of mutation is associated with Myotonic Dystrophy?

<p>CTG repeat expansion (B)</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 (D)</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 (B)</p> Signup and view all the answers

What is the defective gene in achondroplasia?

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

What is the clinical feature of achondroplasia?

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

What is the treatment option for achondroplasia?

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

What is the clinical feature of hypercholesterolemia?

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

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

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

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

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

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

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

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

<p>Reduced interhemispheric fissure (B)</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 (D)</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 (A)</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 (C)</p> Signup and view all the answers

Which gene defect is associated with Marfan Syndrome?

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

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

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

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

<p>Digestive (C)</p> Signup and view all the answers

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

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

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

<p>Myotonic Dystrophy (B)</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 (B)</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 (C)</p> Signup and view all the answers

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

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

What is the primary genetic defect that leads to hemochromatosis?

<p>Mutation in the HFE gene (B)</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 (D)</p> Signup and view all the answers

What is the most common manifestation of untreated hemochromatosis?

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

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