High School

4. A phenotypically normal woman, Susie, has a mother, Karen, with phenylketonuria (PKU), a disease caused by the inability to process phenylalanine in food. There are no other instances of PKU in Karen's family history. Susie's father, Bill, suffers from a rare red-green colorblindness, as does Bill's mother's father (his maternal grandfather). Bill has a brother with the same colorblindness, but his two sisters have normal vision.

a. Draw a pedigree depicting the above information using the correct shapes. List all known genotypes.

Hint: Susie is in Generation IV.

Answer :

Final answer:

In the given pedigree, Karen has phenylketonuria (PKU) with a genotype of PKU/PKU. Susie, being phenotypically normal, is a carrier of the PKU gene with a genotype of PKU/N. Bill and his maternal grandfather suffer from red-green colorblindness with genotypes of XcY. Bill's brother also has the same colorblindness with a genotype of XcY. Bill's two sisters have normal vision with genotypes of XNXN.

Explanation:

To draw the pedigree and determine the genotypes, we need to understand the inheritance patterns of phenylketonuria (PKU) and red-green colorblindness.

PKU is an autosomal recessive disorder, which means both parents must be carriers of the PKU gene for their child to inherit the disease. In this case, Karen has PKU, so her genotype is PKU/PKU. Susie, being phenotypically normal, must be a carrier of the PKU gene. Therefore, her genotype is PKU/N, where N represents the normal allele.

Red-green colorblindness is an X-linked recessive disorder, primarily affecting males. Females can be carriers of the gene but are usually unaffected. Bill suffers from red-green colorblindness, so his genotype is XcY, where Xc represents the colorblind allele. Bill's maternal grandfather also has red-green colorblindness, so his genotype is XcY as well.

Based on the information provided, Bill has a brother with the same colorblindness, so his brother's genotype is also XcY. However, Bill's two sisters have normal vision, indicating that they are not carriers of the colorblind gene. Therefore, their genotypes are XNXN, where XN represents the normal allele.

Here is the pedigree diagram:

Learn more about pedigree analysis and inheritance patterns here:

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