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Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Genetics Is the Key to Biology
• Genetics is the science of heredityand variation
• Study of how traits are passed fromone generation to the next
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Fidelity and variation intransmission of genetic material
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Genes
• Are the basic structural andfunctional unit of genetics
• Are sequences of nucleotides in DNA
• Control cells by directing proteinsynthesis
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
The Genetic Material - DNA(Deoxyribonucleic Acid)
•Composed of Nucleotide subunits
•Nucleotides are composed ofDeoxyribose (sugar)Phosphate groupBases
A (Adenine), T (Thymine)G (Guanine) or C (Cytosine)
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
DNA Is a Double Helix
DNA model.
Credit: © Science VU/NIH/Visuals Unlimited
35685
http://www.biologycorner.com/resources/DNA-colored.gif
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
The Genetic Code Is Universal
• Sequence of nucleotides determineshow the protein is produced from thegene
• Mutations are changes on the DNA
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Gene Product = Protein
Fig. 1.2
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Chromosomes
• Genes arearranged onchromosomes
Fig. 1.6
Karyotype
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
How Are Genes Transmitted fromParent to Offspring?
• Gregor Mendeldemonstrated theprinciples ofinheritance
• Conductedexperiments ontransmission oftraits in peas
Fig. 1.3
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Approaches
• Transmission Genetics
• Pedigree Analysis
• Cytogenetics
• Molecular Genetics
• Population Genetics
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Transmission Genetics
• Studies the pattern of inheritancethat results when traits are passedfrom generation to generation
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Pedigree Analysis
• Family history isused toconstruct thepattern of how atrait is passedfrom generationto generation
Fig. 1.5
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Cytogenetics
• Studieschromosomenumber andstructure
Fig. 1.6
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Karyotype of Down’s syndrome
http://www.ucl.ac.uk/~ucbhjow/bmsi/lec7_images/47_xx_21.gif
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Molecular Genetics
• Uses recombinant DNA technology toidentify, isolate, clone, and analyzegenes
• Tremendous impact in the last 40years
• Debate over social, legal and ethicalissues
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Population Genetics• Identifies how much genetic variation
exists in populations• Investigates factors, such as migration,
population size, and natural selection, thatchange the frequency of a specific geneover time
• Coupled with DNA technology, investigatesevolutionary history and DNA identificationtechniques
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Tracing ancestry of the Cohanim;Thomas Jefferson/Sally Hemings
http://www.pbs.org/wgbh/nova/israel/familygene.html
Lemba
Cohanim
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Uses of Genetics
• Basic ResearchInformation about how genes functionWhat happens when they do not work?
• Applied ResearchCommercial products in healthcare,industry, and agriculture
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Genetics and Social Policy
• Eugenics• Genetic Technology• Human Genome Project• Health Care• Recombinant DNA Technology
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Genetic Technology
• Recombinant DNA
• Important forResearchGenetic testingGene therapyBiotechnology
Fig. 1.10
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Human Genome Project
• Public and private research• Sequence the entire human genome• First draft in 2001 completed in 2003• 3 billion nucleotides• 35,000 genes• Genomics focuses on the organization
and function of the genomes
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Health Care
• 10 million children andadults in U.S. sufferfrom a geneticdisorder
• Development ofgenetic testingidentifies individualsat risk and allows usto develop newtreatments
Fig. 1.11
Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning
Recombinant DNA Technology
• Genetically modified food - plants and animals• Production of human proteins to treat disease
How should this technology be used?
What are the ethical, legal, and social concerns?
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