Review of Reassigning Probabilities Based on New Information

 

1. Probability of being a Carrier in an Autosomal Monohybrid Cross.
 
 

Let A be the dominant allele and a be the recessive allele.

Under the specified conditions there are two genotypes which are phenotypically normal:  AA and Aa. 

These two genotypes make up 3/4 of the expected genotypes from a cross of Aa x Aa.

 Eliminating the homozygous recessive phenotype (aa),  we see that 1/3 of the normal progeny have genotype AA [(1/4)/(3/4) = 1/3] and 2/3 of the normal progeny have genotype Aa [(2/4)/(3/4) = 2/3]. 

 

A(1/2) a(1/2)
A(1/2) AA(1/4) Aa(1/4)
a(1/2) Aa(1/4) aa(1/4)

The probability of appearing normal is 1. This value is obtained by dividing both sides of the equation by 3/4

        1/4/3/4 (AA) + 1/2/3/4 (Aa) = 3/4/3/4

        1/3 (AA)   + 2/3 (Aa) = 1     

 

   
   
2. Probabilities change with new information -a cystic fibrosis example.
   
 
A normal woman (Helga) has a brother with CF (aa genotype).  Her parents do not have CF.  Each of these parents had to give an a allele to their son so they must each have the genotype Aa.  Thus, the marriage that produced Helga was 
 
Aa x Aa
 
 
 
The predicted outcome of such a marriage is theoretically:
 
Genotypic Array        1/4AA + 1/2Aa + 1/4aa = 1
 
Phenotypic Array      3/4 Normal + 1/4 CF =1
 
Therefore, before Helga was born, expected ratio of Normal to CF was 3: 1.  The ratio of AA to Aa genotypes was 1/4:2/4 or 1:2

 

 
After Helga was born,  her phenotype is no longer a theoretical event!  Helga does not have CF. 
 
The probability that she does not have CF is 1not 3/4
 
 
By observation Helga's phenotype is normal.  The only question remaining is Helga's genotype (AA vs. Aa).

 If Helga was a mouse,  we could do a test cross to determine her genotype.  With humans, however,  we can only assign probabilities. 
 
As previously stated, the expected ratio of AA: Aa  is 1:2 or 1/3:2/3.  If the overall probability is one, the probability of AA is 1/3 and of Aa is 2/3.
 

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