Data Interpretation:
Genetic Testing
Question 1
This is the pedigree of a family with severe Haemophilia A. From the pedigree data shown below, what is the risk that III-1 is or is not a carrier?
Question 2
This is the pedigree of a family with severe Haemophilia A. From the pedigree data shown below, what is the risk that II-3 is or is not a carrier?
Question 3
This is the pedigree of a family with severe Haemophilia A. From the pedigree data shown below, what is the risk that II-3 is or is not a carrier? Why is II-2 an obligate carrier of severe haemophilia A?
Question 4
This is the pedigree of a family with severe Haemophilia B. From the pedigree data shown below, what is the risk that III-5 is or is not a carrier? Using this data calculate the risk that she will have a child with severe haemophilia B.
Question 5
This is the pedigree of a family with severe Haemophilia A.
1.
From the pedigree data shown below, what is the risk that III-4 is or is not a carrier?
2. The additional information is generated Using two linked intragenic markers within the F8 gene. The risk of recombination is negligible and can be ignored.
The two alleles are are 0.8/1.1 and 4.8/5.2.
Using this additional data what is the risk the III-4 is a carrier?
Question 6
This is the pedigree of a family with severe Haemophilia A.
1.
From the pedigree data shown below, what is the risk that II-3 is or is not a carrier?
2. The additional information is generated using two intragenic markers within the F8 gene [0.8/1.1 and 4.8/5.2] and 1 extragenic marker [5.8/2.8]. The risk of recombination for the two intragenic markers is negligible and can be ignored but is 5% for the extragenic marker.
Using this additional data what is the risk the III-4 is a carrier?
Question 7
These are electropherograms from a region of the human F7 gene. What mutation is shown.
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