Overview of Genetics Nine Weeks 1-Test 1 Name: _________________ Period: ____ #: ___ I Can or I Know Standards ____ 1. I know that genes are the instructions that manufacture proteins, which determine inherited traits. ____ 2. I know the genome and its relationship to the human cell. ____ 3. I can distinguish between the different levels of genetics. ____4. I can distinguish the relationship between genes and their environment. ____ 5. I can describe the different applications of genetics. 1 Overview of Genetics Chapter 1 – NW1 Test 1 I. Genetics a. Is a ___________ science b. It is the study of inherited _________________ and _________________ c. ________________ are the units of heredity d. Genes are composed of: ___________________________ (DNA) e. ______________ are produced by an interaction between the genes and the environment II. Genes a. Contain the instructions within the cells for ________________ production b. The field of _____________ studies the production of proteins within specific cell types. III. The Genome a. Is the complete set of _________________ information for an organism b. It includes: i. All of the ___________ present in an organism and ii. Other DNA sequences that do not _______________ genes c. Human genome was sequenced in _______________ IV. Genetic Testing a. Detects ___________________________ genetic variants b. May be used i. To prevent, delay, control, or treat _________________ ii. Gain information on ___________________ of genetic diseases and for _____________________ testing iii. _____________________ medical treatment c. Steps in Genetic Testing i. ______________________________________________ ii. ______________________________________________ iii. ______________________________________________ iv. ______________________________________________ V. Genetic Counseling a. Genetic counselor ___________________ tests and __________________ the findings from the laboratory testing b. ______________________ is important 2 c. Laws prevent employers and insurers from _______________________ against anyone based on genetic information d. Examples of Genetic Tests: i. ______________________ ii. Certain cancers 1. _______________ 2. _______________ 3. _______________ iii. iv. v. vi. vii. viii. __________________ forms of Alzheimer's Type _____ diabetes ________________ Arthritis _______________ Disease Restless ____________ Syndrome ________________ Degeneration VI. DNA a. A _________________ stranded polymer consisting of a chain of nucleotides b. Deoxyribonucleotide components: i. ________________________ ii. Sugar: ___________________ iii. Base: 1. ______________ G 2. ______________ A 3. ______________ T 4. ______________ C iv. The sequence of the bases code for the ___________________ sequence in a protein VII. Ribonucleic Acid (RNA) a. ________________ stranded polymer of ribonucleotides b. Ribonucleotides components: i. Phosphate ii. Sugar: ____________ iii. Base: 1. ______________ G 2. ______________ A 3. ______________ U 4. ______________ C c. Several types: ____________, _____________, & _____________ d. Uses information on DNA to construct proteins 3 VIII. Genome a. Only __________ of the DNA in the human genome encodes protein b. Rest includes highly repeated sequences with ________________ functions known as _________ or short tandem repeats. c. Includes about ___________________ protein encoding genes d. Cataloged in database i. Online __________________ Inheritance in Man (OMIM) IX. Genes a. ________________ are variants of genes b. They form by __________________ c. Mutations in _______________ or _____________ cells are passed on to the next generation d. May be positive, negative, or neutral X. Variations a. ____________________ are variations in the DNA sequence that occur in at least 1% of the population b. Single nucleotide polymorphisms (__________) are single base sites that differ among _________________ and are important as markers c. Each SNP represents a difference in a ____________ DNA building block, called a nucleotide. XI. Chromosomes a. Composed of ____________ and _________________ b. Found in the __________________ of the cell c. Human cells have ______ chromosomes d. 22 pairs of ________________ e. The sex chromosomes ____ and ____ i. Females have ______ X chromosomes ii. _____________ have one X and a Y XII. Karyotype a. A chart of the chromosomes organized by the ___________ of the chromosome pairs. XIII. Cells a. All cells with a nucleus in the body contain the same ______________ information b. _______________________ causes cells to differ in appearance and function. This is controlled by variation in _____________ expression. c. _________________ cells are less specialized XIV. Individual a. The ___________________ of an individual is the alleles (genes) they carry 4 XV. b. The phenotype is the ______________________ trait i. ________________ alleles are expressed if the individual carries one or two copies of the allele ii. ________________ alleles are only expressed if the individual carries ________ copies of the allele. Pedigrees a. Diagrams that enable recessive and dominant ____________ to be followed through individuals across multiple ________________ of a family. XVI. Population a. Is a group of ________________________ individuals b. The gene pool is the _________________ in a population c. _________________ is the changing allelic frequencies in populations over time. XVII. Variation in the Human Population a. ____________ random people share approximately _________ of their genome b. Concept of “race” as defined by skin color is a _______________, not a biological, concept c. Studies indicate humans arose in Africa and migrated across the globe with relatively _______________ change. XVIII. Most Genes Do Not Function Alone a. _________________ traits are determined by a single gene b. Most traits are ______________________ and not controlled by a single gene. They are influenced by ____________ than one gene and the environment c. Some illnesses may occur in different forms: Mendelian, multifactorial, and _____________________. XIX. Genetic Determinism a. The modifying effect of the environment on gene action counters the idea of _______________ _______________, which is that an inherited trait is inevitable. b. The idea that “we are our genes,” or such phrases as “its in her DNA,” dismiss ____________________ influences. c. In predictive testing for inherited disease, which detects a disease-causing genotype in a person without symptoms, results are presented as ____________, rather than foregone conclusions, because the environment can modify gene expression. d. A woman might be told “You have a 45 percent chance of developing this form of breast cancer,” not, “You will get breast cancer.” e. Genetic determinism may be harmful or helpful, depending upon how we _____________ it. f. As part of ____________ policy, genetic determinism can be disastrous. An assumption that one ethnic group is genetically less intelligent than another can 5 lead to lowered expectations and/or fewer educational opportunities for those perceived as biologically inferior. g. __________________, in fact, has a huge impact on intellectual development XX. Genetic Risk a. _________________ risk - the probability that an individual will develop a condition or trait b. _________________ risk - the likelihood that an individual from one group will develop a condition in comparison to another group (usually the general population) c. _______________ risk - risk determined by observing incidence of a trait in the population d. ______________ factor - a situation that alters incidence of a disease (or trait) XXI. Applications of Genetics a. ________________ b. Common __________ c. Forensics i. ___________________________ ii. ___________________________ d. Health care i. ______________ of disease ii. Development of _________________ iii. Family _______________________ e. Agriculture i. _____________ and ___________________ breeding ii. Genetically ___________________ foods iii. ______________ management 6 Review of Genetic Vocabulary Terms: VQ 1 1. Genes 2. Genome 3. Cell 4. DNA 5. Genomics 6. Bioethics 7. RNA 8. Alleles 9. Mutation 10. Chromosome 11. Autosome 12. Sex chromosomes 13. Karyotype 14. Genotype 15. Phenotype 16. Dominant 17. Recessive 18. Pedigree 19. Gene pool 20. Multifactorial trait 21. Mendelian trait 22. Polymorphism 7 Review Questions 1. Distinguish between: a. An autosome and a sex chromosome b. Genotype and phenotype c. DNA and RNA d. Recessive and dominant traits e. Pedigrees and karyotypes f. Gene and genome 2. Explain how DNA encodes information 3. Explain how all humans have the same genes, but vary genetically 8 Applied and Internet Questions 1. Two roommates go grocery shopping and purchase several packages of cookies that supposedly each provide 100 calories. After a semester of eating the snacks, one roommate has gained 6 pounds, but the other hasn’t. Assuming that other dietary and exercise habits are similar, explain the roommates different response to the cookies 2. On an episode of the television program House, the main character, Dr. House, knew from age 12 that his biological father was a family friend, not the man who raised him. At his supposed father’s funeral, the good doctor knelt over the body in the casket and sneakily snipped a bit of skin from the corpse’s earlobe – for a DNA test. a. Do you think that this action was an invasion of anyone’s privacy? b. Was Dr. House justified? Why or why not? 3. Genetics inspires cartoonists, too. Visit the website provided on the OLC and search under "DNA." Select a cartoon that misrepresents genetics, and explain how it is inaccurate, misleading, or sensationalized. http://cartoonbank.com 9 10 *Booklet Rubric* Notes ____/10 Vocabulary ____/10 Review ?’s ____/10 Application & Internet ?’s ____/10 Bioethics ____/10 BOOKLET TOTAL _____/50 11