Patho_Genetics Quiz
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Due to deficiency of enzyme that degrades GAGs
A. Spingolipidoses
B. Sulfatidoses
C. Mucopolysaccharidoses
D. Glycogenoses
Manifested as early atherosclerosis and tendon xanthomas
A. Ehlers-Danlos Syndrome
B. Familial Hypercolesterolemia
C. Tay-Sachs Disease
D. Niemann-Pick Disease
Results from an inherited defect in an extracellular glycoprotein called fibrillin-1
A. von Gierke
B. Marfan Syndrome
C. Tay-Sachs Disease
D. Niemann-Pick Disease
Disorder is transmitted by heterozygous females to their sons, who manifest the disease
A. Autosomal Recessive
B. Autosomal Dominant
C. X-linked
D. Y-linked
Make up the largest category of Mendelian disorders. They occur when both alleles at a given gene locus are mutated.
A. Autosomal Recessive
B. Autosomal Dominant
C. X-linked
D. Y-linked
Caused by interactions between multiple variant forms of genes and environmental factors
A. Chromosomal Disorders
B. Mendelian Disorders
C. Complex Multigenic Disorders
D. Single gene Mutation Disorders
Most severe form of Gaucher disease characterized by acute neuropathic form (infantile); progressive CNS involvement
A. Type I
B. Type II
C. Type III
D. Type IV
The expression of the defect tends to be more uniform than in autosomal dominant disorders.
A. TRUE
B. FALSE
Enzyme proteins are not affected in autosomal dominant disorders
A. TRUE
B. FALSE
Metabolic Autosomal Recessive Disorder include
A. Thalassemia
B. Cystic Fibrosis
C. Both A and B
D. None of the Above
All of the following statements are true, EXCEPT
A. Mutations can interfere with gene expression at various levels.
B. Transcription may be suppressed by gene deletions and point mutations involving promoter sequences.
C. Abnormal mRNA processing may result from mutations affecting introns or splice junctions or both.
D. Translation is affected if a missense mutation creates a stop codon within an exon
Loss of one arm followed by the duplication of the two remaining arms of the chromosome
A. Inversion
B. Isochrome formation
C. Translocation
D. Deletion
A single mutant gene may lead to many end effects termed
A. Codominance
B. Pleiotropism
C. Genetic Heterogeneity
D. Genetic Homogeneity
Classification of LDL receptor mutation that affects the LDL-binding domain of the receptor; the encoded proteins reach the cell surface but fail to bind LDL or do so poorly
A. Class I
B. Class II
C. Class III
D. Class IV
Enzyme defect consequence in a1-antitrypsin deficiency
A. Accumulation of the substrate
B. Metabolic block and a decreased amount of end product
C. Failure to inactivate a tissue-damaging substrate
D. Defective transport into cells
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