1. Concepts and Applications Seventh Edition
Powerpoint Lecture Outline
Human Genetics
Concepts and Applications
Seventh Edition
Ricki Lewis
Prepared by
Mary King Kananen
Penn State Altoona
Ch 1 vocab Part 1
Genetics
Cells
Genomics
Myostatin
DNA
Microarray
Genes
Genome
Genetic counselor
Gene expression

2. Biobank Scavenger Hunt- by group
Each person: Make a list of these categories and record the
information you find for each…..
Name of Biobank.
Name of (1)Director/CEO/President/Founder.
Mission statement/slogan/logo.
Location.
Years of service.
Services provided.
Additional information (name at least 3).
Project Assignment: Due Monday, 10/20/14
Will post example and rubric to my webpage

3. Overview of Genetics Chapter 1

4. Genetics
Is a life science
It is the study of inherited variation and traits
Genes are the units of heredity
Genes are composed of Deoxyribonucleic Acid (DNA)
Traits are produced by an interaction between the genes and the environment

5. Genes Contain the instructions within the cells for protein production
Figure 1.1

6. The Genome Is the complete set of genetic information for an organism
It includes:
All of the genes present in an organism and
Other DNA sequences that do not encode genes
Human genome was sequenced in 2000

7. Genetic Testing Uses new technology
Detects health-related genetic variants
May be used
To prevent, delay, control, or treat symptoms
Gain information on risk of genetic diseases and for pre-pregnancy testing
Personalize medical treatment

8. Steps in Genetic Testing
Figure 1.2

9. Genetic Counseling
Genetic counselor recommends tests and explains the findings from the laboratory testing
Confidentiality is important
Laws prevent employers and insurers from discriminating against anyone based on genetic information

10. Examples of Genetic Tests
Cystic fibrosis
Certain cancers
Inherited forms of Alzheimer's
Type 2 diabetes
Others

11. Review Question 6 – pg. 18
Health insurance forms typically ask for applicants to list existing or preexisting symptoms. How do results of a genetic test differ from this?

12. Levels of Genetics
Figure 1.3

13. Deoxyribonucleic Acid (DNA)
A double stranded polymer consisting of a chain of nucleotides
Deoxyribonucleotide components:
Phosphate
Sugar: Deoxyribose
Base:
Guanine G Adenine A
Thymine T Cytosine C
The sequence of the bases code for the amino acid sequence in a protein

14. Box Figure 1.1

15. Ribonucleic Acid (RNA)
Single stranded polymer of ribonucleotides
Ribonucleotides components:
Phosphate
Sugar: Ribose
Base:
Guanine G Adenine A
Uracil U Cytosine C
Several types
Uses information on DNA to construct proteins

16. Box Figure 1.2

17. Genome Only 1.5% of the DNA in the human genome encodes protein
Rest includes highly repeated sequences with unknown functions
Includes about 24,000 protein encoding genes
Cataloged in database
Online Mendelian Inheritance in Man (OMIM)

18. Genes Alleles are variants of genes They form by mutation
Mutations in sperm or egg cells are passed on to the next generation
May be positive, negative, or neutral
Examples
resistant to HIV
myostatin mutation

19. Review Question 5 – pg. 18
Mutations are often depicted in the media as being abnormal, ugly, or evil. Why is this not necessarily true?

20. Variations
Polymorphisms are variations in the DNA sequence that occur in at least 1% of the population
Single nucleotide polymorphisms (SNPs) are single base sites that differ among individuals and are important as markers

21. Chromosomes Composed of DNA and protein
Found in the nucleus of the cell
Human cells have 46 chromosomes
22 pairs of autosomes
The sex chromosomes X and Y
Females have two X chromosomes
Males have one X and a Y

22. A Karyotype is a chart of the chromosomes organized
by the size of the chromosome pairs.
Figure 1.3

23. Cells
All cells with a nucleus in the body contain the same genetic information
Differentiation causes cells to differ in appearance and function. This is controlled by variation in gene expression.
Stem cells are less specialized

24. Levels of Organization
Cells
Tissues
Organs
Organ systems
Organism

25. Individual The genotype of an individual is the alleles they carry
The phenotype is the visible trait
Dominant alleles are expressed if the individual carries one or two copies of the allele
Recessive alleles are only expressed if the individual carries two copies of the allele

26. The Family Inheritance of traits can be observed in families.
A pedigree indicates the structure of a family
schematically.
Figure 1.3

27. Applied Question 4 pg. 18
In search for a bone marrow transplant, why would a patient’s siblings be considered before first cousins?
Answer: An individual shares more genes with a sibling (1/2) than with a first cousin(1/8).

28. A Population Is a group of interbreeding individuals
The gene pool is the alleles in a population
Evolution is the changing allelic frequencies in populations over time.
Figure 1.3

29. Evolution
Comparison of DNA sequences indicates the amount of similarity between two species.
98% of human DNA sequences are shared with chimpanzees.
Humans share genes with mice, fish, fruit flies, yeast, and bacteria.
Figure 1.5

30. Variation in the Human Population
Two random people share approximately 99.9% of their genome
Concept of “race” as defined by skin color is a social, not a biological, concept
Studies indicates humans arose in Africa and migrated across the globe with relatively little change.

31. Review of Genetic Terms
Table 1.1

32. Most Genes Do Not Function Alone
Mendelian traits are determined by a single gene
Most traits are multifactorial and not controlled by a single gene. They are influenced by more than one gene and the environment
Some illnesses may occur in different forms: Mendelian, multifactorial, and non-inherited

33. Review Question 4 – pg. 18
Cystic fibrosis is a Mendelian trait; height is a multifactorial trait. How do the causes of these characteristics differ?

34. Genetic Risk Absolute risk the probability that an individual will
develop a condition or trait
Relative risk the likelihood that an individual from
one group will develop a condition in
comparison to another group
(usually the general population)
Empiric risk risk determined by observing
incidence of a trait in the population
Risk factor a situation that alters incidence of a
disease (or trait)

35. Relative Risk
Figure 1.7

36. Applications of Genetics
DNA profiling compares DNA sequences to
Establish relationships
Forensics
Biobanks
Box Table 1.1

37. Applications of Genetics
Historical
Common origins
Figure 1.9

38. Figure 1.10

39. Applications of Genetics
Health care
Prediction of disease
Development of treatments
Family planning

40. Applications of Genetics
Agriculture –pg.15
Crop and animal breeding
Genetically modified foods
Pest management
Figure 1.12

41. Applications of Genetics
Ecology