Assignment 1

This assignment is marked out of 100 possible points and is worth 10% of your final grade. It is
based on Units 1 to 5. Complete it after Lesson 2 of Unit 5 and use the appropriate Assignment
Drop Box to submit it to your academic expert for grading.

Unless otherwise directed, the information you need to answer these questions is available in the
course materials. Further research is not required. Some questions may require information from
more than one unit or lesson.

Answer the questions in your own words, using full sentences.

1. Review your own definition of gene from the list of Key Terms in Unit 1 Lesson 1. Quote three
sentences from Chapter 1 in Lewis describing the term “gene” and provide in‐text citations for
them. Paraphrase these text sentences into one or two sentences to describe a gene in your
own words. Provide a citation for your paraphrase. (3 marks)
Note: All citations in this course must include the page number, but they may be in any format
you are familiar with, e.g., envirAPA, MLA, CSE. If you need to, search the AU Library for
information on citation. Note the reference to the course text in the References List (APA),
Works Cited (MLA) or References or Works Cited (CSE) at the end of your assignment.

For each of questions 2–5, select and support the most appropriate response, and explain why
each of the incorrect statements is eliminated.

2. In a diploid cell undergoing mitosis, the centromeres of the chromosomes will

a. replicate during prophase.
b. divide when chromosomes are synapsing.
c. segregate to the same pole of the cell during anaphase.
d. divide in the reductional division.
e. attach to spindle fibres. (5 marks)

3. Meiosis in an oocyte
a. creates four cells that are identical in size.
b. results in qualitatively genetically different meiotic products.
c. has an equational division in M I.
d. segregates homologous chromosomes in M II.
e. creates new allele combinations, along non‐sister chromatids, during telophase I. (5 marks)

Biology 341: Human Genetics (Rev. C14) 1

4. Alleles of a gene
a. are located in various locations of a chromosome.
b. originate through mutation.
c. always create a variant of the gene’s protein detectable in the phenotype.
d. differ in a person’s gene pool.
e. are different on sister chromatids in mitosis. (5 marks)

5. Two genetically identical organisms express slightly different phenotypes for a given trait when
raised in different environments. On the other hand, two individuals who are genetically
unrelated express very different phenotypes for the trait when raised in similar environments.
This is an indication that
a. environmental components have a large effect on the expression of the phenotype.
b. this phenotype is not multifactorial.
c. the trait is determined by a single gene.
d. the environment is equally important to the phenotype as the genotype.
e. the phenotype is multifactorial but the genotype strongly influences the phenotype.
(5 marks)

6. Match each description or example (letter list) in the right‐hand column to the best term in the
left‐hand column (number list). Use only one description per term and one term per
description. (8 marks)

Term Description/Example

1. ____ progenitor cell a. linked due to shared gene expression

2. ____ diseasome b. aneuploidy

3. ____ cell adhesion c. equational division

4. ____ homologue d. pluripotent

5. ____ meiosis II e. contact inhibition

6. ____ nondisjunction f. protein encoding

7. ____ exome g. transcriptional regulation

8. ____ homeobox h. bivalent

7. Describe how the features of the nucleus, and its components and molecules, enable the
functions of storage, protection, use, and transmission of genetic information. (6 marks)

Biology 341: Human Genetics (Rev. C14) 2

8. a. Describe the genetic contribution to the Adrenoleukodystrophy (ALD) phenotype,
described in the Intracellular Digestion – Lysosomes and Peroxisomes (Lewis 25) subsection
of the text. Use only the information provided in Lewis. (2 marks)
b. Identify two features in Lewis’s description that allow you to deduce that ALD is recessive
and explain how those features support that conclusion. (3 marks)

9. Choose two diseases* (a general or specific name), each involving a different one of the
following cellular components: lysosomes, membranes, or the cytoskeleton. Use only the
information in the Lewis text to describe whether the protein for each disease is structural, an
enzyme, for transport, for communication, or has other functions, and to answer one or more
of these points:
 name the related protein.
 note whether the related protein is abnormal or missing.
 describe an example of an action or consequence of the defect. (4 marks)
*Note that diseases themselves are used here as examples of genetic concepts.

10. For a non‐human organism with somatic cells that have 20 chromosomes, indicate the number
of
a. chromatids in the G2 phase.
b. chromosomes during prophase of mitosis.
c. synapsed homologous pairs in metaphase I.
d. chromatids in anaphase of mitosis.
e. telomeres in the G0 phase. (5 marks)

11. What is signal transduction, and how is it part of fertilization? (4 marks)

12. Describe how a paracentric inversion of a chromosome could be detected by chromosomal

staining, and by FISH. Be sure to describe what you would expect to see using both techniques.
(3 marks)

13. Lewis describes a situation of uniparental disomy where “two identical copies of the
chromosome” (Lewis 259) were in the oocyte. What occurs during meiosis that prevents these
chromosomes from being genetically identical? (2 marks)

14. A family has a child affected with trisomy 18. A trait related to a gene on chromosome 18 has
been studied in the family. The parents have normal phenotypes for this trait. It has been
determined that the mother produces only normal protein for this trait, and the father
produces equal amounts of its normal and abnormal forms. The child with trisomy 18 has twice
as much abnormal as normal form of this protein. The gene for this protein is very close to
heterochromatic DNA of the centromere, thus reducing its crossing‐over frequency. Which
parent contributed the extra chromosome to the child? Explain. In which division did the error
most likely occur? Explain. (4 marks)

Biology 341: Human Genetics (Rev. C14) 3

15. Wet earwax is an autosomal dominant trait. Dry earwax is the recessive form of the trait. Using
your own allele symbols (provide a legend), determine the proportions of genotypes and
phenotypes of possible offspring from the following parents: (7 marks)
a. the mother has dry earwax; the father has wet earwax and his mother had dry earwax.
b. one parent has dry earwax; the other parent is homozygous for wet earwax.
c. both parents have wet earwax; each had one parent with dry earwax.

16. John has a white forelock. His wife Kate has completely brown hair. Their two children (five‐
year‐old Jack and 3‐year‐old Clara) do not have white forelocks. Their new born daughter Mia
is bald, and her hair colour pattern cannot yet be determined. John’s mother Liz and his elder
sister Jazmin have white forelocks, but his father does not and neither does his younger
brother Bikram. Jazmin’s husband has uniform hair colour. Both of their fraternal twin
daughters (Nora, Lily) have hair like their mother, but their youngest child Jacob, who is
adopted, is completely dark haired. Bikram’s wife Emma does not have a white forelock, but
thinks it is dramatic and hopes to have a child with it someday, especially since her husband’s
brother has it.
a. Using conventional symbols, construct a pedigree of the family above, showing the mode
of inheritance of white forelock (having a streak of white hair). White forelock (affected) is
an autosomal dominant trait. Uniform hair colour (unaffected) is the recessive form of the
trait. Indicate the genotypes of the individuals (under the pedigree symbols or in a separate
list). Include a legend for the symbols used for the phenotypes and genotypes. If you wish,
you can draw the pedigree by hand, and include a picture of it with your assignment.
(23 marks)
b. Why is the ratio of females with white forelocks to males with white forelocks not 1:1 for
this autosomal trait in this pedigree? (2 marks)
c. What is the probability that a child of Bikram and Emma would have a white forelock?
Explain. If John and Kate were to have another child, what is the probability that the child
will be a girl with a white forelock? Explain. (4 marks)

Biology 341: Human Genetics (Rev. C14) 4