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ISBN-13: 978-0078035036 ISBN-10: 0078035031

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While it is easiest to introduce the basic mechanisms of heredity by using examples from the world of plants and laboratory animals, we are most concerned with human evolution and human genetics. The fields of human and medical genetics have grown exponentially and today traditional Mendelian genetics would probably make up only a week’s study in a contemporary course on introductory genetics. We certainly do not have the time to examine most of the new developments in genetics. Chapter 3 attempts to focus more on human genetics and to present, in abbreviated form, some of the new developments. It also expands on the presentation of genetics in the previous chapter. This chapter does not have to be assigned, for the information in Chapter 2 is adequate for our evolutionary studies, but students enjoy learning about these subjects.


Chapter Summary

A large number of polymorphic blood proteins are found in the blood that are inherited in known Mendelian patterns. The best-known system of blood proteins is the ABO system, which consists of three basic blood antigens. Another well-known system is the Rh blood type system. These and other blood type systems used to be thought of as selectively neutral, but they are not.

Over 15,000 inherited traits have now been recognized in humans. Phenylketonuria is an example of an abnormality that is inherited as a simple recessive; achondroplastic dwarfism, on the other hand, is inherited as a simple dominant. Not all patterns of inheritance follow these simple Mendelian rules. One distinctive pattern of inheritance occurs when the gene in question is located on the X chromosome. Since males inherit one X chromosome from their mothers and one Y chromosome from their fathers, genes on the X chromosome are not paired as they are in females.

A number of abnormalities are not due to single genes but to errors in the number and structure of chromosomes. Such errors, when they involve autosomes, tend to lead to major abnormalities.

Today, diseases of genetic cause or influence have become the subject of a great amount of medical research. Already geneticists can, in a limited way, manipulate the human genome. In the future, human cloning, gene therapy, and other forms of genetic engineering may become common practices to cure genetic abnormalities, create children with specific characteristics, and allow couples to have special types of children.

Today, a gene is seen as a section of DNA that has a specific function, such as the coding of a particular protein, which might have a phenotypic expression or regulate the expression of another gene. One of the most ambitious ventures of the past decade is the Human Genome Project, the mapping of the entire human genome.


Student Learning Outcomes for Chapter 3

Upon satisfactory completion of Chapter 3, students should be able to:

1. Apply the basic principles of Mendelian genetics, cytogenetics, and molecular genetics to a wide range of human-based problems and issues.

2.  Understand the increasing importance of genetics in medicine.


Learning Objectives for Chapter 3

Upon satisfactory completion of Chapter 3, students should be able to:

1. Describe some of the contributions of genetics to medicine.

2. Explain the ABO blood system, including the relationship between the various genotypes and phenotypes, why blood type matters for blood transfusions, and how the ABO system differs from Mendelian inheritance.

3. Distinguish between the various causes of genetically based abnormalities.

4. Evaluate the various deviations from Mendelian inheritance, including the inheritance of X-linked traits.

5. Describe the causes and consequences of chromosomal abnormalities, including the two basic types.

6. Describe some of the many recent advances in genetics knowledge and the ethical dilemmas that accompany them.

7. Explain the concept of genetic engineering and discuss how this type of engineering may change humans in the future.

8. Explain what a gene is on the molecular level.


Chapter Outline

Medical Genetics

Blood-Type Systems

Human Inherited Abnormalities

Other Patterns of Inheritance

Chromosomal Abnormalities

Genetic Abnormalities as Mistakes in Proteins


Genetics and Human Affairs

Genetics and Medicine

The Control of Human Biological Evolution


Advances in the Molecular Study of Genetics

What is a Gene?

The Human Genome


Box 3-1   Sex and the Olympics

Box 3-2   Genetics and Insurance: An Ethical Dilemma

Box 3-3   Landmarks in Genetics: The First DNA Sequence of an Animal Genome is Decoded

Box 3-4   DNA Fingerprinting


Discussion Launchers

1. What is eugenics? What are possible negative effects of eugenics? What are the positive aspects of eugenics?

2.  In November 2001, human embryos were cloned for the first time. The reaction to this development was mixed. What do you think about the issue of human cloning? Should there be any restrictions? If so, give examples. What about the cloning of animals?

3. The Genetic Information Nondiscrimination Act (GINA) makes it illegal for employers to discriminate against employees based on genetic information. Do you think this is fair to employers? If so, why, and if not, why not?

4.  How do you think increasing knowledge of the human genome will influence medical diagnosis and treatment in the future?


Films and Videos

See the films and videos listed in Chapter 2 and the TED talks listed in the section below.


Other Resources Including Resources for Distance Learning


Learn.Genetics, the Genetic Science Learning Center of the University of Utah, contains many modules covering the topics found in Chapter 3, such as Genetics & Blood Type, Using Karyotypes to Predict Genetic Disorders, Cloning, Gene Therapy, and Epigenetics. The URL is http://learn.genetics.utah.edu.


Perhaps the most complete listing of inherited conditions is the Online Mendelian Inheritance in Man (OMIM) of the National Center for Biotechnology Information, at http://www.ncbi.nlm.nih.gov/sites/



A less formidable presentation, with a lot of useful information on the most common encountered conditions, can be found at Medline Plus, a service of the U.S. national Library of Medicine and the National Institutes of Health, at http://www.nlm.nih.gov/medlineplus/geneticdisorders.html. There are many websites available for specific conditions, some of which are listed in Medline Plus.


A fact sheet on chromosome abnormalities is available from the National Human Genome Research Institute at http://www.genome.gov/11508982.


A useful tutorial that lists many of the more common chromosomal abnormalities can be found at http://www.biology.iupui.edu/biocourses/N100/2K2humancsomaldisorders.html from Indiana University-Purdue University Indianapolis.


A great site with a detailed discussion of Sex-Testing of Women Athletes can be found at http://www.sciencecases.org/crossing_over/notes.asp.


The About the Human Genome Project website (US Department of Energy) at http://www.ornl.gov/sci/

techresources/Human_Genome/Project/about.shtml to learn about the Human Genome Project.


There are many TED talks of interest on matters relevant to this chapter. One is by Craig Venter from 2009.  He discusses the work on digitizing life and creating synthetic chromosomes. The URL is http://www.ted.com/talks/lang/eng/craig_venter_is_on_the_verge_of_creating_synthetic_life.html. Another talk from 2003 is by biotech ethicist Gregory Stock, who discusses how genetic engineering will change future human life and the ethic concerns surrounding such changes: http://www.ted.com/talks/lang/eng/gregory_stock_to_upgrade_is_human.html. Also see: Paul Root Wolpe’s 2009 talk entitled, “It’s time to question bio-engineering,” at http://www.ted.com/talks/paul_root_wolpe_it_s_time_to_question_bio_engineering.html. Also of interest is Harvey Fineberg’s 2011 talk called “Are we ready for neo-evolution?” at http://www.ted.com/talks/harvey_fineberg_are_we_ready_for_neo_evolution.html.


A series of short videos on genomics can be found on the Discover Magazine website at http://discovermagazine.com/brightcove.


Exam Questions


Multiple Choice Questions


1. The term polymorphic, when applied to blood, refers to:

A) the presence of proteins in many forms

B) the presence of two alleles

C) the agglutination of red cells forming many small clots

D) the presence of both red and white blood cells

Answer: A


2. Important differences among red blood cells were discovered by:

A) Gregor Mendel B) Karl Landsteiner C) James Watson D) Francis Galton

Answer: B


3. Proteins whose primary function is to destroy or neutralize foreign substances are called:

A) enzymes B) antigens C) antibodies D) hormones

Answer: C


4. A substance that stimulates the production or mobilization of antibodies is called a(n) :

A) antigen B) allele C) agglutination D) enzyme

Answer: A


5. The ABO blood type system has how many major alleles:

A) one B) two C) three D) four

E) more than four

Answer: C


6. In the presence of anti-A, type A red blood cells will undergo:

A) agglutination B) hydrolysis C) lysis D) fusion

Answer: A


7. If a person with type A blood received a transfusion of B type blood, the recipient’s blood would experience:

A) heavy agglutination of the donor’s cells C) light agglutination of the donor’s cells

B) heavy agglutination of the recipient’s cells D) no agglutination

Answer: A


8. A person whose blood contains the antibodies anti-A and anti-B would be of the blood type:

A) A B) B C) AB D) O

Answer: D


9. In the ABO blood type system:

A) the allele for A is dominant over the allele for B

B) the allele for B is dominant over the allele for A

C) alleles A and B are codominant

D) the allele for O is dominant over those for A and B

Answer: C


10. If a person with AB type blood mates with another person with AB type blood, which type of blood will not appear among their children?

A) A D) O

B) B E) all types could appear among their children


Answer: D


11. A mother of known blood type B has a child whose blood turns out to be B. From this it follows that the father could:

A) not have been blood type A D) not have been blood type O

B) not have been blood type B E) have been of any blood type

C) not have been blood type AB

Answer: E


12. A woman with B type blood has a child with O type blood. We would conclude that, with respect to the gene for ABO blood type, the mother was:

A) homozygous dominant C) heterozygous

B) homozygous recessive D) none of the above

Answer: C


13. The ABO and Rh blood type systems affect each other in that:

A) individuals who are O are always Rh negative

B) individuals who are O are more likely to be Rh negative

C) the genes for the two blood systems are linked

D) none of the above; the two systems are inherited independently

Answer: D


14. A woman who is Rh-negative:

A) lacks the antigen Rh0

B) is homozygous recessive

C) may encounter problems if she carries a fetus who is Rh-positive

D) all of the above

Answer: D


15. Erythroblastosis fetalis:

A) is a hemolytic disease

B) can result from an Rh- mother carrying an Rh+ fetus

C) can result from an Rh+ mother carrying an Rh- fetus

D) a and b

E) a and c

Answer: D


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