Answer the following questions for autosomal conditions such as PKU.

If both parents are heterozygous carriers of a mutant allele, what is the chance that their first child will be homozygous recessive for the mutation?

Answer the following questions for autosomal conditions such as PKU.

Parents who are each heterozygous carriers for a recessive mutant allele have a child who does not have the condition. What is the chance this child is a heterozygous carrier of the condition?

Answer the following questions for autosomal conditions such as PKU.

If the first child of parents who are both heterozygous carriers of a recessive mutant allele is homozygous recessive, what is the chance the second child of the couple will be homozygous recessive? What is the chance the second child will be a heterozygous carrier of the recessive mutation?

Examine the following diagrams of cells from an organism with diploid number 2n=6, and identify what stage of M phase is represented.

Homocystinuria is a rare autosomal recessive condition on the RUSP list of conditions screened by newborn genetic testing. The condition results from a mutation that blocks the degradation of the amino acid methionine. The absence of a critical enzyme causes the buildup of the compound homocysteine, which is one of the intermediate compounds in the methionine breakdown pathway. Homocystinuria causes mental impairment, heart problems, seizures, eye abnormalities, and a number of other symptoms that shorten life if not treated. The condition is treated by a specialized diet that is low in methionine and by the ingestion of several supplements.

Why do you think eating a low-methionine diet is critical to controlling homocystinuria?

Homocystinuria is a rare autosomal recessive condition on the RUSP list of conditions screened by newborn genetic testing. The condition results from a mutation that blocks the degradation of the amino acid methionine. The absence of a critical enzyme causes the buildup of the compound homocysteine, which is one of the intermediate compounds in the methionine breakdown pathway. Homocystinuria causes mental impairment, heart problems, seizures, eye abnormalities, and a number of other symptoms that shorten life if not treated. The condition is treated by a specialized diet that is low in methionine and by the ingestion of several supplements.

The low-methionine diet must be maintained throughout life to manage homocystinuria. Why do you think this is the case?

Our closest primate relative, the chimpanzee, has a diploid number of 2n =48. For each of the following stages of M phase, identify the number of chromosomes present in each cell.

end of mitotic telophase

Our closest primate relative, the chimpanzee, has a diploid number of 2n =48. For each of the following stages of M phase, identify the number of chromosomes present in each cell.

meiotic metaphase I

Our closest primate relative, the chimpanzee, has a diploid number of 2n =48. For each of the following stages of M phase, identify the number of chromosomes present in each cell.

end of meiotic anaphase II

Our closest primate relative, the chimpanzee, has a diploid number of 2n =48. For each of the following stages of M phase, identify the number of chromosomes present in each cell.

early mitotic prophase

Our closest primate relative, the chimpanzee, has a diploid number of 2n =48. For each of the following stages of M phase, identify the number of chromosomes present in each cell.

mitotic metaphase

Our closest primate relative, the chimpanzee, has a diploid number of 2n =48. For each of the following stages of M phase, identify the number of chromosomes present in each cell.

early prophase I

Cohesion between sister chromatids, as well as tension created by the pull of kinetochore microtubules, is essential to ensure efficient separation of chromatids at mitotic anaphase or in meiotic anaphase II. Explain why sister chromatid cohesion is important, and discuss the role of the proteins cohesin and separase in sister chromatid separation.

The diploid number of the hypothetical animal Geneticus introductus is 2n = 36. Each diploid nucleus contains 3 ng of DNA in G₁.

Complete the following table by entering the number of chromosomes and amount of DNA present per cell at the end of each stage listed.

End of Cell Cycle      Number of             Amount of
Stage                        Chromosomes       DNA        _
Telophase I
Mitotic telophase
Telophase II

The diploid number of the hypothetical animal Geneticus introductus is 2n = 36. Each diploid nucleus contains 3 ng of DNA in G₁.

What amount of DNA is contained in each nucleus at the end of S phase?

The diploid number of the hypothetical animal Geneticus introductus is 2n = 36. Each diploid nucleus contains 3 ng of DNA in G₁.

Explain why a somatic cell of Geneticus introductus has the same number of chromosomes and the same amount of DNA at the beginning of mitotic prophase as one of these cells does at the beginning of prophase I of meiosis.

A couple and some of their relatives are screened for Gaucher disease in a community-based screening program. The woman is homozygous for the dominant allele, represented by G. The woman's father, sister, and paternal grandmother are heterozygous carriers of the mutant allele, represented by g. Her paternal grandfather, her mother, and both of her mother's parents are homozygous for the dominant allele. The man is heterozygous and he has a brother with Gaucher disease. The man's parents and grandparents have not been tested, but it is known that none of them has Gaucher disease.

Draw a pedigree of this family, including the woman, the man, their siblings, parents, and grandparents.

A couple and some of their relatives are screened for Gaucher disease in a community-based screening program. The woman is homozygous for the dominant allele, represented by G. The woman's father, sister, and paternal grandmother are heterozygous carriers of the mutant allele, represented by g. Her paternal grandfather, her mother, and both of her mother's parents are homozygous for the dominant allele. The man is heterozygous and he has a brother with Gaucher disease. The man's parents and grandparents have not been tested, but it is known that none of them has Gaucher disease.

On the pedigree, write the genotypes (GG, Gg, or gg) for each person who has been tested or for whom you can deduce a genotype. If a genotype cannot be determined completely, list the alleles you know or deduce must be present.

A couple and some of their relatives are screened for Gaucher disease in a community-based screening program. The woman is homozygous for the dominant allele, represented by G. The woman's father, sister, and paternal grandmother are heterozygous carriers of the mutant allele, represented by g. Her paternal grandfather, her mother, and both of her mother's parents are homozygous for the dominant allele. The man is heterozygous and he has a brother with Gaucher disease. The man's parents and grandparents have not been tested, but it is known that none of them has Gaucher disease.

Explain why you are able to assign genotypes to the man's parents despite their not being tested.

Explain how the behavior of homologous chromosomes in meiosis parallels Mendel's law of segregation for autosomal alleles D and d. During which stage of M phase do these two alleles segregate from one another?

Suppose crossover occurs between the homologous chromosomes in the previous problem. At what stage of M phase do alleles D and d segregate?

If a man and a woman are each heterozygous carriers of a mutation causing a disease on the RUSP list, what do you think are the three or four most important factors they should consider in their decision making about having children?

Suppose a man and a woman are each heterozygous carriers of a mutation causing a fatal hereditary disease not on the RUSP list. Prenatal genetic testing can identify the genotype of a fetus with regard to this disease and can identify fetuses with the disease. What do you think are the three or four most important factors this couple should consider in their decision making about having children?

How many Barr bodies are found in a normal human female nucleus? In a normal male nucleus?

Describe the role of the following structures or proteins in cell division:

cohesin protein

Describe the role of the following structures or proteins in cell division:

kinetochores

Describe the role of the following structures or proteins in cell division:

synaptonemal complex

Describe the role of the following structures or proteins in cell division:

microtubules

A pair of homologous chromosomes in Drosophila has the following content (single letters represent genes): Chromosome 1 RNMDHBGKWU Chromosome 2 RNMDHBDHBGKWU Diagram the pairing of these homologous chromosomes in prophase I.