Background Information: There are two primary steps to alcohol metabolism. First, alcohol is converted to acetaldehyde via the enzyme alcohol dehydrogenase (ADH)


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    Background Information:

    There are two primary steps to alcohol metabolism. First, alcohol is converted to acetaldehyde

    via the enzyme alcohol dehydrogenase (ADH). Second, acetaldehyde is converted to acetate via

    the enzyme aldehyde dehydrogenase (ALDH). The ADH gene, located on chromosome 4, codes

    for the ADH enzyme. The ALDH gene, located on chromosome 12, codes for the ALDH

    enzyme. Acetaldehyde is a toxic substance whose accumulation leads to an “alcohol flush

    reaction,” which includes facial flushing, nausea, and rapid heartbeat.

     

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    The ALDH gene has two primary alleles. The dominant D allele results in production of

    nonfunctional ALDH enzyme. This results in a build-up of acetaldehyde and a flush reaction

    when an individual consumes alcohol. The recessive d allele results in production of a functional

    ALDH enzyme and lack of a flush reaction. First, we are interested in the presence or absence of

    the flush reaction phenotype.

     

    1. Jasmine and her mother both get a flush reaction when they drink alcohol. Jasmine’s father

    does not. Jasmine’s husband, Jake, does not get a flush reaction, but his mother and father

    both do.

    a. Draw a pedigree of Jasmine, Jake, and their parents. Label each individual with

    his/her genotype.

    b. What genotypic ratio is expected among Jasmine and Jake’s kids? Show your work

    with a Punnett square.

    c. What proportion of Jasmine and Jake’s kids are expected to exhibit the flush

    reaction? Explain.

     

    2. The ADH gene also has two primary alleles. One allele, A, codes for a form of the ADH

    enzyme that catalyzes the conversion of alcohol into acetaldehyde approximately 80 times

    faster than the form encoded by the a allele. AA individuals exhibit fast conversion, Aa

    individuals exhibit medium conversion, and aa individuals exhibit slow conversion of alcohol

    into acetaldehyde. In this question, we are interested in “conversion rate” as a trait. The

    possible phenotypes are fast, medium, and slow.

    a. Does the ADH gene exhibit dominance, incomplete dominance, or codominance with

    respect to the alcohol conversion rate? Explain your answer.

     

     

    b. Jasmine and Jake both exhibit a medium rate of conversion of alcohol into

    acetaldehyde. What proportion of their kids are expected to exhibit fast conversion,

    medium conversion, or slow conversion of alcohol? Show your work with a Punnett

    square and explain.

     

    3. Now consider both the ADH and the ALDH genes at the same time.

    a. Write out Jasmine’s genotype, including both the ADH and the ALDH genes (e.g,

    AADd, or whatever the correct genotype is). Do the same for Jake.

    b. Draw a single Punnett square showing the expected genotypic ratio of Jasmine and

    Jake’s kids, considering both genes together.

    c. Write out the expected phenotypic ratio of Jasmine’s and Jake’s kids, considering

    both traits together. For example, how many will have a flush reaction and fast rate

    of conversion? How many will have no flush reaction and a medium rate of

    conversion? Etc.

     

    4. The figures below show possible arrangements of chromosomes during meiosis in the germ

    cells of Becky, who is a double heterozygote for the ADH and ALDH genes (AaDd). Becky’s

    father was AADD and her mother was aadd.

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    a. Using Figure 1 below, draw how the alleles for these genes would be arranged on the

    chromosomes, given that they segregate independently. Note that the figure contains

    only 2 of the 23 kinds of chromosomes due to space constraints.

    b. Using Figure 2 below, draw how the alleles for these genes would be arranged on the

    chromosomes if they were tightly linked (i.e., assume there has been no crossing over

    between them).

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    c. Becky married Juan, who also had one AADD and one aadd parent. Draw two

    Punnett squares representing the expected proportions of genotypes among Becky

    and Juan’s children. Use the first square to represent what would happen with

    independent assortment and the second square to represent what would happen if the

    genes are tightly linked (i.e., there is no crossing over between them).

    d. What are the expected proportions of offspring phenotypes for each case?

    e. How does independent assortment affect the genetic and phenotypic diversity of the

    offspring, compared to dependent assortment? Explain.

     

     

    5. Both the ADH and ALDH genes contribute to an individual’s probability of developing

    alcohol dependence, a disease that is relatively common and often devastating. Inability to

    convert acetaldehyde to acetate results in a flush reaction that makes alcohol consumption

    extremely unpleasant. Meanwhile, fast conversion of alcohol to acetaldehyde quickly

    removes the pleasurable effects of alcohol.

    People with a flush reaction essentially never develop alcohol dependence, no matter how

    fast or slow they convert alcohol into acetaldehyde. Consuming alcohol is just too

    unpleasant. Among those without a flush reaction, people with the AA genotype (fast

    converters) are least likely to develop alcohol dependence. People with the Aa genotype

    (medium converters) are roughly 5 times as likely and people with the aa genotype (slow

    converters) are roughly 10 times as likely to develop alcohol dependence as people with the

    AA genotype. Many other factors also influence whether or not an individual develops

    alcohol dependence, including that person’s culture, education, religion, health care, family

    environment, and social support network.

    a. Given the information presented in this problem set so far, which extensions to

    Mendelian genetics (listed below) are involved in the trait of alcohol dependence?

    Give a brief explanation for every extension so that I can evaluate your

    reasoning for choosing it or not.

     

    1. Linkage

    2. Incomplete dominance

    3. Codominance

    4. More than 2 alleles per gene

    5. Polygenic Inheritance

    6. Epistasis

    7. Pleiotropy

    8. Environmental Influence

    9. Sex linkage

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    b. So far, I have given you only part of the story of alcohol dependence; the whole

    picture is more complex. There are actually many different ADH genes located very

    close together on chromosome 4, many different alleles for both the ADH and ALDH

    genes, and many additional genes involved in this trait, including at least one on the

    X chromosome. Many of these genes influence other traits, such as anxiety or ability

    to detoxify other substances, in addition to the tendency to develop alcohol

    dependence. Researchers are actively discovering more about the genetics

    underlying this trait each year. Given this information, which additional extensions

    to Mendelian genetics apply to alcohol dependence? Give a brief explanation for

    every extension that you did not choose in part a above so that I can evaluate

    your reasoning for choosing it or not.

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    6. A mother and her child both have blood type A.

    a. What are the possible genotypes of the father? Remember to use the correct symbols

    for the alleles (e.g., IB

    ).

    b. The mother has a second child (with the same father) and that child has a blood type

    of O. Now, considering both children, what are the possible genotypes of the father?

    c. Considering both children, what is the genotype of the mother?

     

    5. Both the ADH and ALDH genes contribute to an individual’s probability of developing

    alcohol dependence, a disease that is relatively common and often devastating. Inability to

    convert acetaldehyde to acetate results in a flush reaction that makes alcohol consumption

    extremely unpleasant. Meanwhile, fast conversion of alcohol to acetaldehyde quickly

    removes the pleasurable effects of alcohol.

    People with a flush reaction essentially never develop alcohol dependence, no matter how

    fast or slow they convert alcohol into acetaldehyde. Consuming alcohol is just too

    unpleasant. Among those without a flush reaction, people with the AA genotype (fast

    converters) are least likely to develop alcohol dependence. People with the Aa genotype

    (medium converters) are roughly 5 times as likely and people with the aa genotype (slow

    converters) are roughly 10 times as likely to develop alcohol dependence as people with the

    AA genotype. Many other factors also influence whether or not an individual develops

    alcohol dependence, including that person’s culture, education, religion, health care, family

    environment, and social support network.

    a. Given the information presented in this problem set so far, which extensions to

    Mendelian genetics (listed below) are involved in the trait of alcohol dependence?

    Give a brief explanation for every extension so that I can evaluate your

    reasoning for choosing it or not.

     

    1. Linkage

    2. Incomplete dominance

    3. Codominance

    4. More than 2 alleles per gene

    5. Polygenic Inheritance

    6. Epistasis

    7. Pleiotropy

    8. Environmental Influence

    9. Sex linkage

     

    b. So far, I have given you only part of the story of alcohol dependence; the whole

    picture is more complex. There are actually many different ADH genes located very

    close together on chromosome 4, many different alleles for both the ADH and ALDH

    genes, and many additional genes involved in this trait, including at least one on the

    X chromosome. Many of these genes influence other traits, such as anxiety or ability

    to detoxify other substances, in addition to the tendency to develop alcohol

    dependence. Researchers are actively discovering more about the genetics

    underlying this trait each year. Given this information, which additional extensions

    to Mendelian genetics apply to alcohol dependence? Give a brief explanation for

    every extension that you did not choose in part a above so that I can evaluate

    your reasoning for choosing it or not.

     

    6. A mother and her child both have blood type A.

    a. What are the possible genotypes of the father? Remember to use the correct symbols

    for the alleles (e.g., IB

    ).

    b. The mother has a second child (with the same father) and that child has a blood type

    of O. Now, considering both children, what are the possible genotypes of the father?

    c. Considering both children, what is the genotype of the mother?

     

     

     

    1. Duchenne muscular dystrophy (DMD) is a progressive muscular disorder caused by an X- linked, recessive gene. A woman, who is a carrier for DMD, mates with a man who has DMD. Answer the following questions. Show your work with a Punnett square.
      1. What percentage of their children (either sex) will have DMD?
      2. What percentage of male children will have DMD?
      3. What percentage of female children will have DMD?
    2. Coat color in mammals is often determined by epistasis. In mice, the B gene codes for the type of pigment: BB and Bb result in black pigment and bb results in brown pigment. A second gene, C, determines if the pigment is incorporated into the hair shaft: CC and Cc individuals have pigment in their hair but cc individuals are always white. A BBCC (black) individual mates with a bbcc (albino) individual to produce F1 offspring. If two F1 offspring mate, what is the phenotypic ratio of the F2 offspring? Show your work with a Punnett Square.

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    1. Red hair (R gene) and freckles (F gene) are controlled by two different genes that are tightly linked on chromosome 16. Red hair is recessive to brown hair, whereas having freckles is a dominant trait. Although people with red hair and freckles often have blue eyes, the eye color gene (E gene) is on chromosome 15 and thus sorts independently from the other two genes. Blue eyes are recessive to brown eyes. An individual with genotype RRffEE mates with an individual with genotype rrFFee.
      1. What is the genotypic and phenotypic ratio of the offspring? Show your work with a Punnett Square.
      2. One of these offspring grows up and marries a man who is rrffee. What is the phenotypic ratio of their offspring (i.e., the grandoffspring of the original parents)? Show your work with a Punnett Square.
      3. Suppose all three genes are very tightly linked. What would the phenotypic ratio of the grandoffspring be under this scenario? Show your work using a Punnett Square.
    2. We want to study linkage between the gene determining red hair and the gene for freckles, so we find families that include a parent who is heterozygous for both traits and a parent who is homozygous recessive for both traits. We make sure that each heterozygous parent resulted from a union between grandparent with red hair and freckles and a grandparent with brown hair and no freckles. The resulting offspring genotypes are shown in table 1.
      1. What are the genotypes of the gametes that created the heterozygous parent?
      2. Did crossing over occur? Explain your reasoning.
      3. Calculate the recombination frequency of the two

        genes.

      4. Calculate the distance between the genes in

        centimorgans (cM).

    Table 1

    # Offspring

    Genotype

    110

    RrFf

    400

    Rrff

    380

    rrFf

    110

    rrff

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