Download Chapter Objectives

Chapter 24 - Genetics
Chapter Objectives
1. Explain how gene discoveries are relevant to the study of anatomy and
physiology and to health care.
2. Distinguish between genes and chromosomes.
3. Define genome.
4. Define the two types of chromosomes.
5. Explain how genes can have many alleles (variants) but a person can
have only two alleles of a particular gene.
6. Distinguish among the modes of inheritance.
7. Explain how gene expression varies among individuals.
8. Describe how genes and the environment interact to produce complex traits.
9. Describe how traits are transmitted on the sex chromosomes and how gender affects gene
expression.
10. Explain how deviations in chromosome number or arrangement can harm health and how
these abnormalities are detected.
11. Explain how conditions caused by extra or missing chromosomes
reflect a meiotic error.
12. Explain how gene therapy works.
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Outline: Chapter 24
PowerPoint Presentation: Chapter 24
Kudo Images and Animations: Chapter 24
p.977
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Chapter Outline
I. The Emerging Role of Genetics in Medicine
(p. 978; Fig. 24.1-24.3; Clinical Application 24.1)
A.
Genetics is the study of trait transmission through DNA passed in sperm and egg
cells from generation to generation. Genes, which are part of chromosomes, encode
proteins.
B.
The human genome consist of at least 40,000 protein-encoding genes plus many
repetitive sequences.
C.
Genomics considers heredity in terms of many genes that interact with each other
and the environment.
Web Link: National
Human Genome
Research Institute
Web Link: DNA From
the Beginning
Web Link: Genentech:
Access Excellence:
Biotech Applied
Web Link: Central
Dogma Directory
Web Link: New
Scientist: Cloning: A
Special Report
Objective #1
Objective #2
Objective #3
http://www.nhgri.nih.gov/
p.978
http://vector.cshl.org/dnaftb/
p.978
http://www.gene.com/ae/AB/BA/
p.978
http://esg-www.mit.edu:8001/esgbio/dogma/dogmadir.html
p.978
http://www.newscientist.com/nsplus/insight/clone/clone.html
p.978
Explain how gene discoveries are relevant to the study of anatomy and
physiology and to health care.
Distinguish between genes and chromosomes.
Define genome.
266
II. Mode of Inheritance (p. 980)
A.
The probability that a certain trait will occur in the off spring of two individuals can
be determined by knowing how the genes are distributed in meiosis and the
combinations in which they can come together at fertilization.
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Life Science Animation
Video Tape 2:
Cell Division, Genetics,
Reproduction, Develop.
Life Science Animation
Video Tape 2:
Cell Division, Genetics,
Reproduction, Develop.
Web Link: Animated
Meiosis
Web Link: Virtual
Meiosis
Web Link: Cell
Division: Meiosis
B.
p.980
Time Code: 12:08 Concept 14: Crossing over
p.980
http://www.biology.yale.edu/animatedMeiosisF.nclk
p.980
http://www.biology.uc.edu/vgenetic/meiosis/
p.980
http://gened.emc.maricopa.edu/Bio/BIO181/BIOBK/BioBook
meiosis.html
p.980
p.980
Chromosomes and genes come in pairs. (p. 980; Fig. 24.4)
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Hole's Essential Study
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Web Link: Karyotype
Web Link: The Natural
History of Genes
(Core Genetics)
Web Link: Genes and
Disease: Maps of Each
Chromosome.
Web Link: Huntington's
Disease Transplantation
Project
Objective #4
Objective #5
Reproduction & Development/Reproduction/Meiosis/
Screens 1,4-9
Time Code: 05:28 Concept 13: Meiosis
Reproduction & Development/Reproduction/Meiosis/
Screens 1-3
Reproduction & Development/Pregnancy/Genetics/
Screen 1
http://www.amnionet.com/p23.htm
http://raven.umnh.utah.edu/index.html
p.980
http://www.ncbi.nlm.nih.gov/disease/
p.980
http://www.brc.cam.ac.uk/people/sbd/hdprog.htm
p.980
p.980
p.980
p.980
Define the two types of chromosomes.
Explain how genes can have many alleles (variants), but a person can
have only two alleles of a particular gene.
267
C.
Dominant and recessive inheritance. (p. 983; Figs. 24.5, 24.6)
Web Link: The Biology
Project: Mendelian
Genetics
Web Link: Online
Mendelian Inheritance
in Man
Web Link: MendelWeb
Web Link: What Every
Family Should Know:
Modes of Inheritance
Web Link: Patterns of
Inheritance
D.
p.983
http://www.ncbi.nlm.nih.gov/Omim/
p.983
http://www.netspace.org/MendelWeb/homepage.html
http://mcrcr2.med.nyu.edu/murphp01/ntsad/modes.htm
p.983
p.983
http://www.cancergenetics.org/pattern.htm
p.983
Different dominance relationships. (p.985; Fig. 24.7)
Web Link: ABO Blood
Types and Parentage
Web Link: Sickle Cell
Information Center
Web Link: Sickle Cell
Disease Association of
America
Objective #6
http://www.biology.arizona.edu/mendelian_genetics/mendelia
n_genetics.html
http://www.divorcenet.com/paternity/abo-blood.html
p.985
http://www.emory.edu/PEDS/SICKLE/
p.985
http://SickleCellDisease.org/
p.985
Distinguish among the modes of inheritance.
III. Gene Expression (p. 985)
A.
Penetrance and expressivity (p. 986)
B.
Pleitropy (p. 986)
C.
Genetic heterogeneity (p. 986)
Objective #7
Explain how gene expression varies among individuals.
268
IV. Complex Traits (p. 986; Fig. 24.8-24.10)
A.
Most disorders considered up to this point have been caused by a single gene.
B.
Traits determined by more than one gene are called polygenic, and
several genes determine the overall phenotype for the trait.
C.
Traits molded by more than one gene plus the effect of the environment
are termed multifactorial, such as the traits of human height and skin color.
Web Link: Behavior
Genetics
Web Link: Behavior
Genetics Association
Web Link: Minnesota
Twin Study
Objective #8
http://galton.psych.nwu.edu/greatideas/bg.html
p.986
http://www.bga.org/
p.986
http://www.psych.umn.edu/psylabs/mtfs/
p.986
Describe how genes and the environment interact to produce complex traits.
V. Matters of Sex (p. 987; Fig. 24.11)
A.
Human males have one X chromosome and one Y chromosome; human
females have two X chromosomes.
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B.
C.
p.987
Sex Determination (p. 987; Fig. 24.12).
Sex Chromosomes and their genes (p. 988).
Hole's Essential Study
Partner CD
Web Link: Color
Vision Self Test
Objective #9
Reproduction & Development/Pregnancy/Genetics/
Screen 2
Reproduction & Development/Pregnancy/Genetics/
Screens 3-7
http://www.color-vision.com/ctest.htm
p.988
p.989
Describe how genes are transmitted on the sex chromosomes and how gender
affects gene expression.
D. Gender Effects on Phenotype (p. 990; Fig. 24.13).
269
VI. Chromosome Disorders (p. 991)
A.
Deviations in the normal chromosome number produce symptoms
because of an excess or deficit of genes.
B.
Polyploidy (p. 991).
C.
Aneuploidy (p. 991; Fig. 24.14; Clinical Application 24.2).
A+P Videodisc Side 4
A+P Videodisc Side 4
Web Link:
Cytogenetics Gallery
Web Link:
Chromosome Deletion
Outreach
Web Link: Cri Du Chat
Syndrome Support
Group
Web Link: Support
Organization for
Trisomy 18, 13 and
Related Disorders
Web Link: Turner's
Syndrome Society
Web Link: Klinefelter
Syndrome and
Associates
Web Link: National
Fragile X Foundation
Web Link: FRAXA
Research Foundation
Web Link: The Arc's
Q&A on Fragile X
Syndrome
40510 Trisomy 13
40511 Trisomy 18
http://www.pathology.washington.edu/Cytogallery/
p.991
p.991
p.991
http://members.aol.com/cdousa/intro.htm
p.991
http://www.personal.u-net.com/~cridchat/
p.991
http://www.trisomy.org/
p.991
http://www.turner-syndrome-us.org/
p.991
http://www.genetic.org/ks/
p.991
http://www.nfxf.org/
p.991
http://www.fraxa.org/
p.991
http://TheArc.org/faqs/fragqa.html
p.991
270
D.
Prenatal Test (p.991; Fig24.15; Table 24.1).
Web Link: CDC Office
of Genetics & Disease
Prevention
Web Link: Chorionic
Villus Sampling
Web Link: National
Society of Genetic
Counselors
Web Link: GeneClinics
Web Link: National
Association for Down
Syndrome
National Down
Syndrome Society
Web Link: The Down
Syndrome Research
Foundation
Web Link: The Down
Syndrome WWW Page
Objective #10
Objective #11
VII.
http://www.cdc.gov/genetics/default.htm
p.991
http://www.noah.cuny.edu/pregnancy/march_of_dimes/testing p.991
/cvsinfo.html
http://www.nsgc.org/
p.991
http://www.geneclinics.org/
http://www.nads.org/
p.991
p.992
http://www.ndss.org/
p.992
http://www.dsrf.org/
p.992
http://www.nas.com/downsyn/
p.992
Explain how deviations in chromosome number or arrangement
can harm health and how these abnormalities are detected.
Explain how conditions caused by extra or missing chromosomes
reflect a meiotic error.
Gene Therapy (p. 993; Clinical Application 4.4)
A.
Two approaches to gene therapy:
(p.993; Table 24.2, 24.3; Clinical Application 24.3).
1. Heritable gene therapy: introduces the genetic change into a sperm, egg, or
fertilized egg, correcting each cell of the resulting individual.
2. Nonheritable gene therapy: replaces or corrects defective genes in only affected
cells (somatic cells) and therefore cannot be transmitted to the next generation.
Web Link: Institute for
Human Gene Therapy
Web Link: American
Soc. Of Gene Therapy
Web Link: Rare
Genetic Diseases in
Children
http://www.med.upenn.edu/~ihgt/
p.993
http://www.asgt.org/
p.993
http://mcrcr2.med.nyu.edu/murphp01/homenew.htm
p.993
271
B.
Tool and targets of gene therapy (p.996; fig. 24.16).
Web Link: Albinism &
Hypopigmentation
Web Link: Alzheimer
Web Link: American
Cancer Society
Web Link: National
Cancer Institute
Web Link: Cystic
Fibrosis USA
Web Link: Cystic
Fibrosis Foundation
Web Link: Muscular
Dystrophy Association
Web Link: Duchenne
Muscular Dystrophy
Web Link: National
Hemophilia Foundation
Web Link: Hemophilia
Home Page
Web Link: National
Marfan Foundation
Web Link: PKU News
Web Link: National
Tay-Sachs & Allied
Diseases Association
Web Link: Tay-Sachs
Disease
Web Link: Wilson
Disease Association
Web Link: Xeroderma
Pigmentosum Society
Objective #12
http://www.albinism.org/
p.996
http://www.alz.org/
http://www.cancer.org/
p.996
p.996
http://www.nci.nih.gov/
p.996
http://www.cfusa.org/
p.996
http://www.cff.org/
p.996
http://www.mdausa.org/
p.996
http://philly.mgen.pitt.edu/infofram.htm#top
p.996
http://www.Hemophilia.org/
p.996
http://www.web-depot.com/hemophilia/
p.996
http://www.marfan.org/
p.996
http://www.wolfenet.com/~kronmal/
http://mcrcr2.med.nyu.edu/murphp01/taysachs.htm
p.996
p.996
http://www.noah.cuny.edu/pregnancy/march_of_dimes/birth_
defects/taysachs.html
http://www.wilsonsdisease.org/
p.996
http://www.xps.org/
p.996
p.996
Explain how gene therapy works.
272
Additional Activities and Quizzes on Genetics
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Reproduction & Development/Pregnancy/
Additional Activities
Reproduction & Development/Pregnancy/Quiz
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1004
p.
1004
Unit Six Exam- Reproduction and Development
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