a) Suppose you find a mutation (X) that you suspect is causing a genetic disease

Question

a) Suppose you find a mutation (X) that you suspect is causing a genetic disease (D). Which of the following findings would increase your confidence that X is causing D?

- Mutation X is found in many people with disease D and never in those who are healthy
- The alteration in mutation X is found in high frequency in normal humans
- Mutation X alters a DNA sequence that is highly conserved among vertebrates
- You look at the DNA from one person with disease D and they have mutation X

b)
You study 1000 people; 500 normal and 500 diseased. You find your mutation in all of the diseased people but none of the normal people. Your mutation is likely to be:

You study the protein in diseased individuals and find that the mutation results in an inactive protein. Your mutation is likely to be:

Your mutation is found in one diseased person and at a very low frequency in normal people. Your mutation is likely to be:

Your mutation alters a highly conserved base in the gene. Your mutation is likely to be:

Choose from:
- Pathogenic
- Implicated
- Associated
- Damaging
- Deleterious

Explanation / Answer

a)d

b)X linked recessive mutation.

C) alternation. Of bases make protein inactive and it is deletrious

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