KINGSBOROUGH COMMUNITY COLLEGE
Department of Biological Sciences
HUMAN GENETICS
Biology 37 (D02EH) – Spring 2008
Professor Anthea M. Stavroulakis, Ph.D.
This course is open to Honors program students. This non-majors Biology offering encourages students to become more “science literate” by learning and relating how current topics are constantly molding and influencing our changing world, specifically in the field of genetics. Our class discussions, use of the Internet, media, movies and even science fiction (!) as sources of communication and information are examined, critiqued, etc. Lectures are augmented by selected readings from the newspapers and/or primary literature, as applicable to the topic. Our class discussions will extend our lecture topics of human heredity including gene therapy, somatic nuclear transfer and stem cells, thereby allowing an extensive and comprehensive treatment of them. The end of term ethic debate requires students to utilize course material (textbook, class discussions, and literature sources) to formulate and present their view/opinion on a topic the class chooses. Your support or disagreement will be written, presented and (re)evaluated in the format of a class debate. The course grade calculation includes a portion for submission of Internet Assignments (samples attached) which will require you to either locate or access web sites utilized by students, researchers and teachers to procure specific genetic information then to answer specified questions.
Meeting Day, Time and Room Number
Monday, Tuesday, Thursday 12:40am-1:40pm Room S-246
Office: Office Hours: Telephone:
Room S-109 Tuesdays 2:45 – 4:15 pm (718) 368-5095
Thursdays 2:45 – 4:15 pm
E-mail: AStavroulakis@kbcc.cuny.edu
REQUIRED TEXTBOOK
Human Heredity. Principles and Issues. Seventh Edition. 2006. Michael R. Cummings
ISBN# 0-534-49511-7 Thomson | Brooks/Cole Publishing, CA.
ADDITIONAL MATERIALS
The Science Section of The New York Times (Tuesdays) should be purchased weekly. Pertinent articles will be assigned throughout the semester, as well as become part of the examination material.
The Big Picture … MAIN COURSE OBJECTIVES
- To enrich our understanding of human heredity through exploration of the many aspects involved [a survey through the molecular, cellular and organismal levels].
- To understand how normal and abnormal cellular processes affect humans at all these levels.
- To learn what current ideas, issues and trends involve human inheritance.
- To become aware of, and to be able to discuss ethical, legal and social issues in human genetics and the implications of these developments.
COURSE GRADE CALCULATION
Written Examinations* = 60% *[3/27; 4/17; 5/5; 5/27]
Internet Assignments (2-3) = 10%
End-of Term Ethics Debate** = 10 % ** [5/22
Final Examination = 20%
_________
Total = 100%
Note: There are no make-up examinations. A missed examination will be assigned a grade of zero. In accordance with KCC’s Attendance Policy, excessive absences will result in course grade reduction.
An extra credit assignment worth 5 points on written examination section total (average) will be available, see instructor during the week of 4/15. This will not be accepted after its due date.
COLLEGE CALENDAR REMINDERS (a few relevant to our class meetings)
Easter recess is March 20th to March 23rd. Spring recess is April 20th to April 27th. On Monday, May 26th (Memorial Day) the college is closed. The last day our class meets is Tuesday, May 27th (which follows a Thursday schedule). The final examination period is June 2nd to June 6th; the date, time and room of your final will be announced in class once it is available. Commencement is Friday, June 13th.
LECTURE TOPICAL OUTLINE
Week / Topic Objectives
Week # Topics Chapter (section)
1 Introduction: A perspective on Human Genetics 1
Genetics is the key to biology
What are genes and how do they work?
How are genes transmitted form parents to offspring?
How do scientists study genes?
Has genetics affected social policy and law?
What impact is genetics having now?
What choices do we make in the era of genomics and biotechnology?
At the conclusion of this section’s material students will:
Understand the historical and current (modern) applications and approaches used in the field of human genetics.
Understand how genetic studies and practices include ethical, legal and social issues.
2 Cells and Cell Division 2
Cell structure reflects function
The cell cycle describes the life history of a cell
Mitosis is essential for growth and cell replacement
Cell division by meiosis: The basis of sex
At the conclusion of this section’s material students will:
Understand that cells are the fundamental unit of living organisms, and be able to describe how each cellular component functions.
Be able to describe mitotic and meiotic cell division, and explain the purpose of each type.
3-4 Transmission of Genes from Generation to Generation 3
Heredity: how are traits inherited?
Mendel’s experimental design resolved many unanswered questions
Crossing pea plants: Mendel’s study of single traits
More crosses with pea plants: the principle of Independent Assortment
Meiosis explains Mendel’s results: genes are on chromosomes
Many genes have more than two alleles
Variations on a theme by Mendel
Mendelian inheritance in humans
At the conclusion of this section’s material students will:
Describe how many basic genetic concepts we know about genetics was first identified in pea plants.
Explain how Gregor Mendel’s experiments explain the separation and assortment of genes (alleles).
Relate meiosis to Gregor Mendel’s experimental results.
Provide a few examples of exceptions to Gregor Mendel’s laws.
Pedigree Analysis in Human Genetics 4
Studying the inheritance of traits in humans
Pedigree analysis is a basic method in human genetics
Analysis of autosomal recessive diseases
Analysis of autosomal dominant traits
Sex-linked inheritance involves genes on the X and Y chromosomes
Analysis of X-linked dominant traits
Analysis of X-linked recessive traits
Paternal inheritance: genes on the Y chromosome
Maternal inheritance: mitochondrial genes
Variations in gene expression
At the conclusion of this section’s material students will:
Know how to interpret and design a pedigree.
Be able to distinguish between autosomal dominant, autosomal recessive, and sex-linked dominant and recessive traits.
Explain holandric and maternal inheritance, illustrating with an example for each.
Complex Patterns of Inheritance 5:
Traits controlled by two or more genes (sect. 5.1)
Polygenic Traits and variation in phenotype (sect. 5.2)
Multifactorial Traits: Polygenes and Environment (sect. 5.3)
At the conclusion of this section’s material students will:
Explain how most human traits are controlled by more than one gene. Give several examples.
Distinguish between polygenic and multifactorial traits.
Relate gene expression to environmental influence.
4 DNA Structure and Chromosomal Organization 8
DNA carries genetic information
Watson, Crick, and the structure of DNA
DNA contains two polynucleotide chains
RNA is a single-stranded nucleic acid
From DNA molecules to chromosomes
DNA replication depends on complementary base pairing
At the conclusion of this section’s material students will:
Know and distinguish the relationship between DNA, chromatin and a chromosome.
Recognize and identify parts of the DNA double helix.
Deduce proper results of DNA replication when given an example segment.
5-6 Gene Expression: From Genes to Proteins 9
The link between genes and proteins
Genetic information is stored in DNA
The genetic code: the key to life
Tracing the flow of genetic information from nucleus to cytoplasm
Transcription produces genetic messages
Translation requires the interaction of several components
Polypeptides fold into three-dimensional shapes to form proteins
Protein structure and function are related
At the conclusion of this section’s material students will:
Describe how the information encoded in DNA specifies protein products.
Be able to trace the flow of genetic information from the DNA in the nucleus to the protein product in the cytoplasm.
Distinguish between transcription and translation, and describe similarities and differences.
Explain the steps entailed for final protein product formation.
6 From Proteins to Phenotypes 10
Proteins are the link between genes and the phenotype
Enzymes and metabolic pathways
Phenylketonuria: a mutation that affects an enzyme
Other metabolic disorders in the phenylalanine pathway
Genes and enzymes of carbohydrate metabolism
Mutations in receptor proteins
Defects in transport proteins: hemoglobin
Pharmacogenetics
Ecogenetics
At the conclusion of this section’s material students will:
Using phenylketonuria as an example, describe how an enzyme mutation disrupts metabolic pathways, and causes disease.
Give examples of other enzyme mutations disrupt metabolism.
Explain how the mutant hemoglobin in sickle cell anemia occurs, and disrupts many body processes.
7 Genes and the Immune System 17
The immune system – components and systems
Immune system responses: non-specific and specific defenses
Blood types and transplantation
Disorders of the immune system- allergies, genetic, auto-immune disorders
At the conclusion of this section’s material students will:
Be able to distinguish between antibodies and antigens.
Be able to discuss how the immune system defends the body against infection.
Distinguish between general and specific defenses against infection.
Be able to discuss how antibodies are manufactured in the body during infection.
Describe blood types and their importance in blood transfusions and immune reactions between mother and fetus.
Be able to describe immune system disorders such as allergies and autoimmune reactions.
8 Genes and Cancer 12
Cancer is a genetic disease
Cancer begins in a single cell
Inherited susceptibility and sporadic cancers
Cancer is a disease of the cell cycle
Colon cancer is a genetic model for cancer
Chromosome changes, hybrid genes, and cancer
Cancer and the environment
At the conclusion of this section’s material students will:
Be able to explain why cancer is considered a genetic disease.
List the steps that occur manifesting in cancer, from a single mutated cell to the disease.
Describe the mutations and steps in colon cancer.
Describe several common genetic changes which occur in cancer cells.
9 Development and Sex Determination 7
The Human Reproductive system
A survey of human development from fertilization to birth
Teratogens are a risk to the developing fetus
How is sex determined?
Defining sex in stages: chromosomes, gonads, and hormones
Mutations can uncouple chromosomal sex from phenotypic sex
Equalizing the expression of X chromosomes in males and females
Sex-influenced and sex-limited traits
At the conclusion of this section’s material students will:
Be able to describe which parts of the human reproductive system are involved in sex determination and development.
Know the sequence of sex determination from conception to determination of genetic sex, then gonadal sex, then phenotypic sex.
Understand and describe dosage compensation, and the difference between sex-influenced and sex-limited inheritance.
10-11 Cytogenetics: Karyotypes and Chromosome Aberrations 6
The human chromosome set
Making a karyotype
Constructing and analyzing karyotypes
Variations in chromosome number
What are the risks for autosomal trisomy?
Aneuploidy of the sex chromosomes
Structural alterations within chromosomes
What are some consequences of aneuploidy?
Other forms of chromosomal abnormalities
At the conclusion of this section’s material students will:
Be able to quantitatively and qualitatively describe the characteristic human chromosomal complement.
Identify and differentiate between normal and abnormal karyotypes and describe the condition to which they correspond.
Be able to describe several human syndromes based on the karyotype provided.
12 Biotechnology and Society 14:
Testing for genetic diseases (sect. 14.4)
At the conclusion of this section’s material students will:
Learn how genetic diseases are tested for.
Reproductive Technology, Gene Therapy and Genetic Counseling 16
Gaining control over reproduction
Infertility is a common problem
Assisted reproductive technologies (ART) expand childbearing options
Ethical Issues in reproductive technology
Gene therapy promises to correct many disorders
Genetic counseling assesses reproductive risks
At the conclusion of this section’s material students will:
Be able to describe various assisted reproductive technologies utilized as childbearing options.
Understand how gene therapy can help individuals afflicted with certain genetic diseases.
THEN….
And at the very end of the semester, many years later…
Be able to discuss human inheritance with confidence! |