30 Questions
What is the role of the Myotonic Dystrophy Protein Kinase enzyme?
Inhibition of myosin phosphatase
What is the characteristic of the congenital form of Myotonic Dystrophy?
Open triangle shape
What is the location of the NF1 gene?
Long arm of chromosome 17
What is the protein produced by the NF1 gene?
Neurofibromin
What is the characteristic skin feature of Neurofibromatosis I?
Pale tan, or light brown discoloration
What type of mutation is associated with Myotonic Dystrophy?
CTG repeat expansion
What is the characteristic of an autosomal recessive gene?
Two copies of the gene must be present for the disease or trait to develop
What is the main characteristic of achondroplasia?
Disorder of bone growth that prevents the change of cartilage to bone
What is the defective gene in achondroplasia?
FGR 3
What is the clinical feature of achondroplasia?
Short limbs relative to trunk
What is the treatment option for achondroplasia?
Medication with bone growth or hormone therapy
What is the clinical feature of hypercholesterolemia?
Impaired uptake of LDL cholesterol
What is the gene defect associated with Sonic hedgehog gene defects?
SHH gene mutation
In HUNTINGTON DISEASE, what type of abnormalities is commonly observed?
Psychiatric abnormalities
What is the role of Sonic Hedgehog protein in embryonic development?
Instructs in brain hemisphere separation
What specific brain abnormality is commonly seen in individuals with HOLOPROSENCEPHALY?
Reduced interhemispheric fissure
What is the significance of the CAG Trinucleotide Repeats in Huntington's Disease?
Causes abnormal protein aggregation
What is the main clinical feature of Huntington's Disease that manifests in 90% of patients?
Psychiatric chorea
What is the role of Fibrillin 1 in the body?
Encodes a microfibril-forming connective tissue protein
Which gene defect is associated with Marfan Syndrome?
FBN 1
What is a common clinical feature of Marfan Syndrome related to the heart?
Mitral valve prolapse
Which system of the body is NOT affected by Marfan Syndrome according to the text?
Digestive
What is the frequent cause of death in individuals with Marfan Syndrome?
Congestive Heart Failure
Which condition primarily affects muscles and body systems starting in adulthood?
Myotonic Dystrophy
What is the primary genetic defect that leads to Gaucher's disease?
Mutation in the GBA gene
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
What is the primary clinical feature of Gaucher's disease?
Splenomegaly, anemia, and liver dysfunction
What is the primary genetic defect that leads to hemochromatosis?
Mutation in the HFE gene
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
What is the most common manifestation of untreated hemochromatosis?
Skin pigmentation and arthritis
Test your knowledge on genetic disorders including autosomal recessive and autosomal dominant conditions. Identify the gene required for the development of a disease or trait, as well as the characteristics of achondroplasia, a bone growth disorder.
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