2nd Marking period Study Guide 1. What do we know about the structure of DNA? Who were the key players in figuring out its structure, and what, specifically, did they contribute? James Watson and Francis Crick are credited with discovering that the DNA molecule is a supercoiled double helix. They were able to do this partly because of the xray photographs of DNA crystals taken by Rosalind Franklin and Maurice Wilkes. 2. T/F: Every cell spends at least part of its life going through cycles of cell division. False. Some cells break out of the cell cycle and become highly specialized, thereby losing the ability to reproduce. They spend their entire lives in G1, simply doing their jobs. 3. What is the relationship between a codon and an anticodon? A codon is a sequence of 3 nucleotides located on an mRNA molecule that was transcribed from DNA. The anticodon is the 3 nucleotide sequence on the tRNA molecule that is complementary to the mRNA strand and a specific amino acid. 4. What is metastasis? The spread of cancer from its site of origin. 5. Differentiate between tumor-suppressor genes and oncogenes. Oncogenes are mutant genes that lack the ability to regulate cell division. Tumor-suppressor genes have the ability to regulate cell division, but they can become mutated and become cancerous. 6. Differentiate between genotype and phenotype. Genotypes are the actual genes present in an organism. In genetics problems, these are represented by capital and lower case letters. Phenotype is the appearance of an organism based on genotype, and are described using adjectives (tall, purple, etc.) 7. Why is the genetic code said to be universal to all living things? All organisms ever discovered have genetic material composed of the same nitrogen bases: adenine, guanine, thymine, cytosine and uracil. 8. Describe the most common kinds of gene mutations, and identify which type causes each of the following conditions: Down syndrome, PKU, sickle-cell anemia, albinism, Turner’s syndrome, Klinefelter’s syndrome, polyploidy Down syndrome, Klinefelter’s syndrome and Turner’s syndrome are all chromosomal mutations (the wrong number) because of nondisjunction during meiosis. PKU is a point mutation to the PAH gene. An enzyme needed to break down the amino acid phenylalanine is not able to be made, causing phenylalanine to build up in the body. If it gets too high, it will be toxic and cause brain damage. Sickle-cell anemia is also a point mutation that occurs on one or more of the HBB genes responsible for producing hemoglobin. The hemoglobin in the red blood cells is distorted, causing the RBCs to become sickle shaped, and inefficient oxygen carriers as a result. Polyploidy is a condition in which there are multiple sets of homologous chromosomes present in a cell. It is more common in plants, causing them to be larger in size. This is usually due to nondisjunction during meiosis. In animals, the cause may be the mating of two organisms with different numbers of chromosomes, and results in hybrid offspring which are sterile. The offspring will also have a different number of chromosomes than either parent. 9. Differentiate between sex-linked and sex-influenced traits. Give an example of each. Sex-linked traits are located on the X or Y chromosome (usually the X, as there are more genes on it), such as colorblindness. Sex-linked traits create different patterns of inheritance due to the fact that men are hemizygous for the X chromosome (have only one). Sex-influenced traits are not necessarily on the sex chromosome, but are influenced by it somehow, such as with hormones. Pattern baldness is a sexinfluenced trait. Both genders may have it, but it is exhibited differently between men and women 10. Who was Gregor Mendel? A European monk/scientist who is considered the father of modern genetics. 11. Differentiate between each of the following: Complete dominance also called Mendelian inheritance, as he discovered this type of heredity. In diploid organisms (has 2 copies of each gene for a trait), one form of the trait (called an allele) completely masks the other form (recessive) if it is present. An example of this would be the round seed shape in Mendel’s experiments. Incomplete dominance Inheritance in which neither allele is completely dominant over the other, resulting in a heterozygote that has a different phenotype than either parent, and the phenotype is somewhere in between both heterozygotes. An example would be in certain flowers, where one homozygote is red, the other homozygote is white, and the heterozygote is pink. Multiple alleles Also called codominance, where there may be several alleles for a trait (but an organism can only have 2 of them), and both are fully expressed. An example would be human blood type, type AB. Both the A gene and the B gene are fully expressed. Sex-linked inheritance genes located on the X or Y chromosome, usually the X 12. State Mendel’s Laws of Heredity. The Law of segregation states that “pairs of factors is separated, or segregated, during the formation of gametes.” The Law of independent assortment states that “factors for different characteristics are distributed to gametes independently.” Simply put, even though certain traits are frequently seen together (blond hair & blue eyes, for example), they are not inherited together. 13. What is a karyotype? What can it tell us? A “picture” of all the chromosomes in a cell. It can tell us the gender of the individual, and if the correct number of chromosomes is present. 14. Differentiate between diploid and haploid cells. Use humans as an example. Diploid cells contain 2 copies of each autosome, and 2 sex chromosomes. Haploid cells contain only one copy of each autosome, and 1 sex chromosome (in humans, this is the X or the Y…this is why fathers determine what gender a baby is!) 15. How do large DNA molecules become small enough to fit in the nucleus of eukaryotic cells? The strands are wrapped around histone and nonhistone proteins, then tightly coiled into a helix (known as the double helix) 16. What is the purpose of a chromatid? A kinetochore? It carries one copy of the chromosome’s DNA after replication. The 2 chromatids (sisters) are held together at the centromere. As mitosis progresses, the spindle fibers, which are attached to the kinetochore (a protein disk on the centromere) separate the two copies. 17. What is a gamete? A zygote? A gamete is the technical name for a sex cell (egg or sperm in mammals, although things like pollen are also gametes). This haploid cells unite to form a single diploid cell called a zygote, which will mature into an organism. 18. What is the difference between binary fission and mitosis? Binary fission is a form of asexual reproduction that occurs in bacteria and some protists. It is similar to mitosis in that the DNA is copied, then divided between the two new cells, but only superficially. In binary fission, specialized structures such as the centrioles and spindle fibers are not present. The cell simply copies its DNA, doubles to approximately its original size, the divides into equal cells. Mitosis usually involves more than one chromosome, and requires an intricate series of stages to make sure the end result is two identical cells PUNNETT SQUARES: You will need to be able to— Identify the genotypes and/or phenotypes of parental crosses and offspring Correctly recognize homozygous and heterozygous genotypes Complete a cross, given the genotypes of the parents Give correct ratios of phenotypic probabilities For both monohybrid and dihybrid crosses. You need to be able to show how Mendel arrived at his expected phenotypic ratios for both of these. 19. Show the monohybrid cross from Mendel’s F1 cross (and state the genotypic and phenotypic probabilities). Where both parents are tall parents (T) who carry the recessive trait for shortness (t). P generation Tt x Tt Gametes possible T, t (for both parents) Punnett square You will need 4 boxes in your punnett square Genotypic results 1 TT : 2Tt : 1tt Phenotypic results 3 tall, 1 short 20. Show Mendel’s dihybrid cross for Tall (T) plants with purple (P) flowers. White is recessive to purple in flower color. For dihybrid crosses, only phenotypic results are necessary. P generation Gametes possible Punnett square Phenotypic results TtPp x TtPp TP, Tp, tP, tp (the same for both parents. You will need 16 boxes in your punnett square 9 tall plants with purple flowers 3 tall plants with white flowers 3 short plants with purple flowers 1 short plant with white flowers 21. Show the gametes that could result from a parent with the genotype RrYyPp. RYP RYp RyP Ryp rYP rYp ryP ryp