Genetic Disorders Quiz

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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?

Neurofibromin Signup and view all the answers

What is the characteristic skin feature of Neurofibromatosis I?

Pale tan, or light brown discoloration Signup and view all the answers

What type of mutation is associated with Myotonic Dystrophy?

CTG repeat expansion Signup and view all the answers

What is the characteristic of an autosomal recessive gene?

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

What is the main characteristic of achondroplasia?

Disorder of bone growth that prevents the change of cartilage to bone Signup and view all the answers

What is the defective gene in achondroplasia?

FGR 3 Signup and view all the answers

What is the clinical feature of achondroplasia?

Short limbs relative to trunk Signup and view all the answers

What is the treatment option for achondroplasia?

Medication with bone growth or hormone therapy Signup and view all the answers

What is the clinical feature of hypercholesterolemia?

Impaired uptake of LDL cholesterol Signup and view all the answers

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

SHH gene mutation Signup and view all the answers

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

Psychiatric abnormalities Signup and view all the answers

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

Instructs in brain hemisphere separation Signup and view all the answers

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

Reduced interhemispheric fissure Signup and view all the answers

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

Causes abnormal protein aggregation Signup and view all the answers

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

Psychiatric chorea Signup and view all the answers

What is the role of Fibrillin 1 in the body?

Encodes a microfibril-forming connective tissue protein Signup and view all the answers

Which gene defect is associated with Marfan Syndrome?

FBN 1 Signup and view all the answers

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

Mitral valve prolapse Signup and view all the answers

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

Digestive Signup and view all the answers

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

Congestive Heart Failure Signup and view all the answers

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

Myotonic Dystrophy Signup and view all the answers

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

Mutation in the GBA gene Signup and view all the answers

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

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

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

Splenomegaly, anemia, and liver dysfunction Signup and view all the answers

What is the primary genetic defect that leads to hemochromatosis?

Mutation in the HFE gene Signup and view all the answers

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

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

What is the most common manifestation of untreated hemochromatosis?

Skin pigmentation and arthritis Signup and view all the answers