Question

Perhaps you and/or your significant other is a carrier of a harmful recessive trait, such as cystic fibrosis. What would you do when considering having children? Would you hope for the best and ignore the situation, or would you see a genetic counselor or what? Select a genetic disorder from the "groups" list. Don't forget to sign up for it. Explain what type of genetic defect or disorder it is. Explain how this genetic anomaly occurs. Is it autosomal or sex linked? Is it dominant, recessive or aneuploidy? You should include what the effects are for individuals, what are the survival rates, is there a higher risk in certain populations, and any other interesting information.

Fanconi's Syndrome		0/3	Join Group
Galactosemia		0/3	Join Group
Gaucher's disease		0/3	Join Group
Huntington's disease		1/3	Join Group
Hurlers syndrome		0/3	Join Group
Klinefelters syndrome		0/3	Join Group
Maple Syrup Urine disease		0/3	Join Group
Marfan's syndrome		0/3	Join Group
Phenylketonuria		0/3	Join Group
Tay Sachs Disease		0/3	Join Group
Turner's syndrome

Choose from any of these groups.

Answer 1

Let us choose tay Sachs disease

- Explain how this genetic anomaly occurs.

This disease requires a mutation in a specific gene, it is the HEXA gene, this mutation causes the production of a non functional protein

- Is it autosomal or sex linked?

It is autosomal, located in chromosome 15

- Is it dominant, recessive or aneuploidy?

It is a recessive condition

- You should include what the effects are for individuals, what are the survival rates, is there a higher risk in certain populations, and any other interesting information.

The affected idividuals develop lowered mental and physical skills in their first year, they do not properly react to sensorial stimuli. This happens because the HEXA gene is in charge of producing an enzyme that cleaves GM2 ganglioside, the accumulation of this molecule due to the lack of the enzyme leads to nerve death.

The survival rate is 0, all the affected individuals die in childhood. There is actually a specific increased risk for this disease in some Jewish population, they tend to have increased inbreeding levels in comparison to other populations.