Your Niece Has Been Diagnosed with Diamond-Blackfan Anemia, an Extremely

question 89

True/False

Your niece has been diagnosed with Diamond-Blackfan anemia, an extremely rare disorder of the bone marrow that causes people have a low red blood cell (RBC) count. The disease is classified as a ribosomal protein disease, meaning that one or more of the genes involved in ribosome production is/are mutated, and the ribosomes are not synthesized properly. Although it is not currently understood why mutations in ribosome biosynthesis affect blood cell formation particularly, you are able to help your sister understand the role of ribosomes in the cell and the consequence of ribosome failure, so that she has a better grasp of her child's condition.
-One of the genes affected in Diamond-Blackfan Anemia is called RPS19. This gene plays a role in maturation of the 40S subunit. Your sister tells you she heard that protein synthesis can occur normally if the large ribosomal subunit is present, even if the small subunit is not because the large subunit is the part that decodes the information. You tell her that this is 

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Definitions:

Extremely Low

A term often used to describe an unusually reduced or minimal level or quantity of something.

Birthweight

The weight of a newborn measured shortly after birth, an important indicator of the baby's health and development.

Pounds

A unit of mass or weight in the imperial system, equal to 0.453592 kilograms, often used to measure weight in some English-speaking countries.

Teratogens

Agents or factors that cause malformation of an embryo or fetus.