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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 heredity and variation • Study of how traits are passed from one generation to the next

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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?

Chapter 1 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Timeline of Recent Changes