Wednesday, 15 October 2008

genetics - Pedigree Probability of Autosomal Recessive Trait

Starting with the left hand side of the diagram:



  • III:2 is definitely a carrier (Tt) as one parent (II:2) is affected (tt).

  • III:1 is also definitely a carrier (Tt) as when mating with III:2 they produce an affected (tt) offspring (IV:1)

  • This means that we can work out the possibilities for IV:4 as we know the parent genotypes. It follows the standard arrangement for two carrier parents giving the options of:
    • TT (1/4)

    • Tt (2/4 = 1/2)

    • tt (Normally 1/4 but in this case 0 as individual not marked as affected).


  • Therefore for this scenario, the probabilities for IV:4 are :
    • TT (1/3)

    • Tt (2/3)


Now if we look at the right hand side of the diagram.



  • IV:5 is definitely a carrier (Tt) as one of their parents (III:5) is affected.

This gives two possible Punnett squares to be examined:



|-------------------------------------------------------------------------------|
| ♂ (IV:5) |
| T t |
| -------------------------------------------------------------------|
| | | |
| T | TT | Tt |
| | | |
| (IV:4) |-------------------------------------------------------------------|
| ♀ | | |
| T | TT | Tt |
| | | |
|-----------|-------------------------------------------------------------------|


This gives nil affected offspring so we can disregard this option for your question (as we are ONLY looking for scenarios which produce affected individuals).



Therefore the alternative is:



|-------------------------------------------------------------------------------|
| ♂ (IV:5) |
| T t |
| -------------------------------------------------------------------|
| | | |
| T | TT | Tt |
| | | |
| (IV:4) |-------------------------------------------------------------------|
| ♀ | | |
| t | TT | tt |
| | | |
|-----------|-------------------------------------------------------------------|


Giving 1/4 affected offspring.



As mentioned above, in order to have affected offspring then IV:4 must be Tt. There is a 2/3 chance of this being the case. If this is the case, then there is a 1/4 chance of the child being tt.



Both conditions need to be true for this to happen so we multiply the fractions:



2/3 * 1/4 = 1/6

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