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

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

Overview of Genetics Chapter 1

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

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

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

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

Steps in Genetic Testing Figure 1.2

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

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

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?

Levels of Genetics Figure 1.3

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

Box Figure 1.1

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

Box Figure 1.2

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)

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

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

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

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

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

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

Levels of Organization Cells Tissues Organs Organ systems Organism

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

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

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).

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

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

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.

Review of Genetic Terms Table 1.1

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

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

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)

Relative Risk Figure 1.7

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

Applications of Genetics Historical Common origins Figure 1.9

Figure 1.10

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

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

Applications of Genetics Ecology