Quiz Definitions


Gangliosidosis: any of a group of lysosomal storage diseases marked by accumulation of gangliosides GM1 or GM2 and related glycoconjugates due to deficiency of specific lysosomal hydrolases, and by progressive psychomotor deterioration, usually beginning in infancy or childhood and usually fatal
GM2 gangliosidosis: that due to deficiency of activity of specific hexosaminidase isozymes, with accumulation of ganglioside GM2 and related glycoconjugates; it occurs as three biochemically distinct variants, including Sandhoff's disease and Tay-Sachs disease.
Glycoconjugate: any of the complex molecules containing glycosidic linkages, such as glycolipids, glycopeptides, oligosaccharides, or glycosaminoglycans
In Vivo: within a living organism
Ex Vivo: outside the living organism
Hexosaminidase A: an enzyme that speed up the biodegradation of fatty acid.
Lysosome: are organelles that contain digestive enzymes (acid hydrolases) to digest macromolecules. They are found only in animal cells, and are built in the Golgi apparatus.
Cherry-red: is a finding in the macula of the eye in a variety of lipid storage disorders and in central retinal artery occlusion.
Vector: any agent that acts as a carrier or transporter, as a virus or plasmid that conveys a genetically engineered DNA segment into a host cell.
Substrate: the substance on which an enzyme acts.
Nerve cells: the body of a neuron without its axon and dendrites.


1: However, the HEXA enzyme has proven to be too large to pass through the blood into the brain through the .
b. Meningitis
c. Blood-brain barrier
d. Immune system
2: Jewish communities, both inside and outside of , embraced the cause of genetic screening from the 1970s on.
a. United States
b. Israel
c. Armenia
d. Greece
3: It is caused by a genetic defect in a single with one defective copy of that gene inherited from each parent.
a. Gene
b. Evolution
c. Genetics
d. DNA
4: Proactive testing has been quite effective in eliminating Tay-Sachs occurrence among Ashkenazi Jews, both in and in the diaspora.
a. United States
b. Israel
c. Armenia
d. Greece
5: TSD is an genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child.
a. Allele
b. Genetics
c. Chromosome
d. Dominance (genetics)
6: Symptoms of LOTS, which present in adolescence or early adulthood, include speech and swallowing difficulties, unsteadiness of gait, spasticity, cognitive decline, and psychiatric illness, particularly schizophrenic-like .
a. Psychiatry
b. Major depressive disorder
c. Eating disorders
d. Psychosis
7: As with all biomedical tests, both approaches produce some false positive and results.
a. Statistical hypothesis testing
b. Bayesian inference
c. Null hypothesis
d. Type I and type II errors
8: Hexosaminidase A is a vital hydrolytic enzyme, found in the lysosomes, that breaks down .
a. Metabolism
b. Carbohydrate
c. Lipid
d. Steroid

1:Blood-brain barrier; 2:United States; 3:Gene; 4. United States; 5: Allele; 6: Major depressive disorder; 7: Statistical hypothesis testing; 8: Lipid

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