Mutation 1: Circle the appropriate answer: This mutation is a transition/transve

Question

Mutation 1:

Circle the appropriate answer: This mutation is a transition/transversion

Circle the appropriate answer: This mutation results in a missense/silent/nonsense mutation in the protein sequence.

Mutation 2:

Circle the appropriate answer: This mutation is a transition/transversion

Circle the appropriate answer: This mutation results in a missense/silent/nonsense mutation in the protein sequence.

Mutation 3:

Circle the appropriate answer: This mutation is a transition/transversion

Circle the appropriate answer: This mutation results in a missense/silent/nonsense mutation in the protein sequence.

Mutation 4.

Circle the appropriate answer: This mutation is a transition/transversion

Circle the appropriate answer: This mutation results in a missense/silent/nonsense mutation in the protein sequence.

These two pedigrees represent the same family. Genetic testing shows that individual 4 has only nonmutant alleles of both genes and individual 12 has only mutant alleles of both genes. Individuals 6, 8, 9, 12, and 14 have cancer. The couple just recently learned that their daughter (individual 14) has cancer and has both mutations. In this lab activity, you will use Punnett squares to determine the probability that the couple’s third unborn child will also inherit both mutations and be at risk for developing cancer.

Using Punnett squares, determine the phenotypes of offspring that the following parents could produce. For some situations, there could be more than one genotype for at least one of the parents. In these cases, be sure to include Punnett squares for all possibilities, and give the probablilty that their third unborn child may be at risk for developing cancer.

1. An autosomal recessive trait with an unaffected mother and an affected father.

2. An autosomal dominant trait with an affected mother and an unaffected father.

3. An X-linked recessive trait with an unaffected mother and an affected father.

4. An X-linked dominant trait with an unaffected mother and an affected father.

Explanation / Answer

Mutation 1- transition , missense

Mutaion2-tranversion, missense

Mutaion 3- tranversion, nonsense

Mutation 4- transversion, silent

Note- the transition is change is purine to purine and pyrimidine to pyrimidine. While transversion is change in purine to pyrimidine and vice versa.

Change in amino acid lead to missensse, coding of stop codon is nonsense and coding of same amino acid is silent.

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