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HUMAN GENETICS Exam 1 Study Guide Week 1: Introduction — Being Human ❒ ❒ Provide the scientific name for the human species. Explain what makes humans: • animals • mammals • primates ❒ ❒ Identify where (geographically) our species originated. ❒ Identify the significance of the Human Genome Project, and be able to state the degree of DNA sequence similarity between humans and chimpanzees. ❒ ❒ List the three basic types of cells that make up humans and describe their functions. Describe the two hypotheses that attempt to explain how humans have migrated around the world. Explain the difference between autosomes and sex chromosomes, including how many we get from each parent (assuming we’re all normal humans). Week 2: Cell Division and Cancer ❒ ❒ Compare and contrast mitosis and meiosis. Briefly explain what happens in each of the following stages of the cell cycle: Interphase • G1 • S • G2 Mitosis • Prophase • Metaphase • Anaphase • Telophase Cytokinesis ❒ ❒ ❒ Give examples of when cells would divide by mitosis (rather than by meiosis). ❒ ❒ Explain the difference between the terms diploid (2n) and haploid (n). Explain why the cell cycle checkpoints are important. Explain why sexually reproducing species use meiosis (rather than mitosis) for reproduction. Describe the process of meiosis, concentrating primarily on: updated 9/27/12 1 HUMAN GENETICS ❒ ❒ Exam 1 Study Guide • the major differences it has with mitosis • the number of daughter cells produced • the number of chromosomes in each daughter cell (diploid or haploid) • whether or not the daughter cells are genetically identical or unique Explain the two hallmarks of cancer. Be able to define the following words: • tumor • metastasis • benign • malignant ❒ Be able to explain the effect(s) that mutations have on cancer. (What types of mutations do we generally see in effect in cancer cells?) ❒ Explain the difference between a tumor-suppressor gene and a proto-oncogene, and how mutations in each of these affects cell division. ❒ List the two high-risk breast cancer genes discussed in class. What makes these highrisk? ❒ Be able to explain why people from families with an inherited form of cancer are more likely to develop cancer than someone from a family without an inherited cancer. (See Jennifer and Sally in your notes.) Week 3: Transmission Genetics ❒ Describe Gregor Mendel’s role in the history of genetics. Also, be able to give two pieces of biographical information: where he lived (present-day Czech Republic in Eastern Europe) and his time frame (mid-1800s). ❒ State and describe Mendel’s two laws: ❒ ❒ ❒ • Law of Segregation • Law of Independent Assortment Explain what is meant by the term allele. • How does an allele differ from a gene or trait? (It’s probably easiest to use an example.) • Explain the difference between a dominant allele and a recessive allele. Explain the difference between the terms homozygous and heterozygous. Explain the difference between the terms genotype and phenotype. • Explain why, when you discuss genotypes for diploid organisms, you also have two alleles (AA or Aa or aa). updated 9/27/12 2 HUMAN GENETICS ❒ Exam 1 Study Guide If you are told that B is the allele for brown eyes and b is the allele for blue eyes, you should be able to fill in the following table: genotype phenotype homozygous dominant homozygous recessive heterozygous ❒ Explain why* each diploid parent only gives one allele for a gene to its offspring. *What process in the parent is responsible for this? Following fertilization, how many copies does the offspring have? ❒ Describe Mendel’s Law of Segregation. (What does the term segregation mean? In class, I told you to think about how the term has been used in U.S. history to describe treatment of African-Americans in the South. How does that apply to alleles during inheritance?) ❒ Be able to use Punnett squares to predict data from monohybrid crosses. For example, if you are told to predict the possible outcomes from a Ff x ff cross, you should be able to do the following: ❒ ❒ • Figure out the possible gametes produced by each parent. • Build a 2 x 2 grid. • Place the gametes along the edge of the grid. • Fill in the grid with the possible allele combinations. • Report the predicted genotypic and phenotypic ratios from the cross. Describe Mendel’s Law of Independent Assortment. For a given parent’s genotype, be able to provide the different kinds of gametes that this parent can produce. • We did several of these in class; here are some more to practice. 1. BbNn 2. Tt 3. HHiiJJKk 4. EEMM 5. PpMM • ❒ Answers to these are on the last page of this study guide. Be able to calculate what the probability is that two independent events happen at the same time. • For example, if two parents have a 25% (1/4) chance of having a child with type O blood, you should know that their chances of having two children with type O blood is 1/4 x 1/4 = 1/16. updated 9/27/12 3 HUMAN GENETICS Exam 1 Study Guide ❒ ❒ Explain why we use pedigrees. ❒ ❒ Explain what is meant when we call someone a carrier for a genetic condition. Be able to draw out a simple pedigree to show basic family relationships. (In terms of the different pedigree symbols, just know how to depict males and females, both affected and normal. The more fancy symbols are not important.) Be able to identify the following patterns of inheritance on a pedigree: • autosomal recessive • autosomal dominant • mitochondrial inheritance Week 4: Cytogenetics ❒ Be able to define cytogenetics and give examples of discoveries that have been made by this field. ❒ ❒ Describe the technique of karyotyping and how cells are collected for this procedure. ❒ ❒ ❒ ❒ Explain why we might perform a karyotype. Be able to describe and sketch an example of each of the three classes of chromosome structure (metacentric, submetacentric, and acrocentric). Know what the normal diploid number is in humans (this should be easy!). Explain the difference between polyploidy and aneuploidy. For each of the following conditions, (1) indicate whether an individual can survive to adulthood and (2) give an example of a disease/syndrome caused by such a condition: • Aneuploidy of an autosome • Aneuploidy of a sex chromosome ❒ ❒ Identify the major risk factor for aneuploidies in humans. ❒ ❒ Be able to distinguish between a genetic disorder and an inherited disorder. ❒ Be able to identify the types of people for whom genetic counseling is recommended. Describe some of the characteristics of a person with Down syndrome (trisomy 21), and describe the two ways that someone can get Down syndrome. Explain who genetic counselors are, what type of information they can provide to patients, and what field(s) their training is in. 1. 2. 3. 4. 5. BN, Bn, bN, and bn T and t HiJK and HiJk EM PM and pM updated 9/27/12 4