James' Unwanted Blood Clots
There are several fairly common genetic variants that affect the blood clotting cascade.
This part of the tutorial shows the roles of the most commonly affected proteins.
In summary, we should consider mutations in the following genes as a part of James' diagnosis:
- prothrombin 2010: common in the population, but low penetrance
- antithrombin III: common in the population, moderate penetrance
- factor V-Leiden: common in the population, but low penetrance
- protein C: common in the population, low to moderate penetrance
- protein S: common in the population, low to moderate penetrance
- mutations in two or more of the above genes
James' pedigree, with 6 affected and 13 unaffected adult offspring of individual I-1, suggests a moderately penetrant mutation, consistent with an antithrombin III mutation.
The strong vertical pattern of inheritance makes a combined effect of two or more mutations less likely.
A sample was sent to the lab in order to substantiate a suggestive diagnosis of antithrombin III deficiency.
Question
What type of test was ordered? (click on your answer)
- assay of a small molecule metabolite
- immuno-assay
- enzyme assay
- allele-specific DNA test
- DNA sequencing
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Question
What type of sample was collected?
- liver biopsy (antithrombin III is made by the liver)
- cheek swab for DNA testing
- blood serum (serum is the liquid that is left after blood clots
- blood in an anti-coagulant
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