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Pedigree analysis. The pedigree shows the inheritance of a very rare, completely

ID: 94342 • Letter: P

Question

Pedigree analysis. The pedigree shows the inheritance of a very rare, completely penetrant autosomal recessive disorder. Note that the couple in generation IV are currently expecting their first child (indicated by the "?") What is the probability the child will be affected by the disorder? What is the probability the child will be a carrier (i.e., heterozygous for the causative mutation)? What is the probability the child will be neither affected nor a carrier (i.e., that he/she will be homozygous wild-type)?

Explanation / Answer

In generation IV, genotypes of couple are either AA or Aa. AA indicates normal homozygous parent and Aa indicates heterozygous parent.

11. Having affected child (aa), genotypes of parent should be heterozygous (Aa).

Aa                   X                    Aa ...............parent

           AA   Aa   Aa   aa ........................ F1

So, the probability of affected child (aa) would be – ¼ = 25%.

12. Having heterozygous (Aa) child, genotypes of parent either heterozygous (Aa) or out of two parent one must be normal (AA) and another must be heterozygote (Aa). Here these two cases are discussed below –

Case – 1                    Aa                             X                              Aa .......................................... Parent

                                              AA        Aa             Aa             aa ................................................ F1

According to this cross, the probability of heterozygous child would be – ½ = 50%

Case – 2                   AA                            X                               Aa ..........................................Parent

                                                        AA                     Aa ......................................................... F1

According to this case -2, the probability of heterozygous child also – ½ = 50%.

So, we can see here in both cases, the probability of heterozygous child is – ½ = 50%.

13. Having homozygous dominant child (AA), genotypes of parent either heterozygous (Aa) or out of two parent one must be normal (AA) and another must be heterozygote (Aa). Here these two cases are discussed below –

Case – 1                    Aa                             X                              Aa .......................................... Parent

                                              AA        Aa             Aa             aa ................................................ F1

According to this cross, the probability of homozygous ominant child would be – ¼ = 25%.

Case – 2                   AA                            X                               Aa ..........................................Parent

                                                        AA                     Aa ......................................................... F1

According to this case -2, the probability of homozygous dominant child would be – ½ = 50%.

Thus, we can say that, there are two different probabilities for homozygous dominant child in these two cases.

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