Study Guide Chapter 13 Genetics 2012 Dr.

Padilla These questions are to help students prepare for the exam and review concepts that were presented in lecture. 1. Define: a. Cell cycle-is the series of events that takes place in a cell leading to its division and duplication (replication). b. Mitosis-the process by which a eukaryotic cell separates the chromosomes in its cell nucleus into two identical sets, in two separate nuclei. It is generally followed immediately by cytokinesis, which divides the nuclei, cytoplasm, organelles and cell membrane into two cells containing roughly equal shares of these cellular components. Mitosis and cytokinesis together define the mitotic (M) phase of the cell cyclethe division of the mother cell into two daughter cells, genetically identical to each other and to their parent cell. c. Interphase- the phase of the cell cycle in which the cell spends the majority of its time and performs the majority of its purposes including preparation for cell division. In preparation for cell division, it increases its size and makes a copy of its DNA. Interphase is also considered to be the 'living' phase of the cell, in which the cell obtains nutrients, grows, reads its DNA, and conducts other "normal" cell functions[citation needed]. The majority of eukaryotic cells spend most of their time in interphase. Interphase does not describe a cell that is merely resting but is rather an active preparation for cell division. d. Kinetochore-is the protein structure on chromatids where the spindle fibers attach during cell division to pull sister chromatids apart. e. Spindle microtubules- spindle apparatus refers to the subcellular structure that segregates chromosomes between daughter cells during cell division. It is also referred to as the mitotic spindle during mitosis or the meiotic spindle during meiosis. f. Centromere- a region of DNA typically found near the middle of a chromosome where two identical sister chromatids come closest in contact. g. Karyotype- the number and appearance of chromosomes in the nucleus of a eukaryotic cell. The term is also used for the complete set of chromosomes in a species h. Autosome- is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females.[1] For example, in humans, there are 22 pairs of autosomes. i. Monocentric- having a single centromere

j. Phenotype- is the composite of an organism's observable characteristics or traits: such as its morphology, development, biochemical or physiological properties, phenology, behavior, and products of behavior k. Genotype- is the genetic makeup of a cell, an organism, or an individual l. Allele- is one of two or more forms of a gene or a genetic locus (generally a group of genes). m. Gene- a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a polypeptide or for an RNA chain that has a function in the organism. n. Wildtype- refers to the phenotype of the typical form of a species as it occurs in nature. Originally, the wild type was conceptualized as a product of the standard, "normal" allele at a locus, in contrast to that produced by a non-standard, "mutant" allele. o. Cross over- is an exchange of genetic material between homologous chromosomes. It is one of the final phases of genetic recombination, which occurs during prophase I of meiosis (pachytene) in a process called synapsis. p. Nondisjunctionis the failure of chromosome pairs to separate properly during meiosis stage 1 or stage 2. This could arise from a failure of homologous chromosomes to separate in meiosis I, or the failure of sister chromatids to separate during meiosis II or mitosis. The result of this error is a cell with an imbalance of chromosomes. q. Polar body- Asymmetrical cell division (cytokinesis) leads to the production of polar bodies during oogenesis. To conserve nutrients, the majority of cytoplasm is segregated into the secondary oocyte during meiosis I, and the ovum during meiosis II. The remaining daughter cells generated from the meiotic events are small and contain relatively little cytoplasm and are referred to as polar bodies. Eventually, the polar bodies degenerate. r. Synapsis- is the pairing of two homologous chromosomes that occurs during meiosis.[1] It allows matching-up of homologous pairs prior to their segregation, and possible chromosomal crossover between them. Synapsis takes place during prophase I. s. Homologous chromosomes- are chromosome pairs of approximately the same length, centromere position, and staining pattern, with genes for the same characteristics at corresponding loci. t. Sister chromatids- are two identical copies of a chromatid connected by a centromere. u. Oogenesisv. Spermatogenesis w. Punnet Square-named after Reginald C. Punnett, who devised the approach, and is used by biologists to determine the probability of an offspring's having a particular genotype.

x. Forkline method-The fork line method can be used by figuring the occurrence of each gene or set of genes to be found in the gamete, and then multiply them together. This can be multiplied by figuring each trait or combination of traits separate for both the male and female, or each gene individually regardless of sex.

y. Test cross- introduced by Gregor Mendel, is used to determine if an individual exhibiting a dominant trait is homozygous or heterozygous for that trait. Put more simply test crosses determine the genotype of an individual with a dominant phenotype. Test crosses involve breeding the individual in question with another individual that expresses a recessive version of the same trait. If all offspring display the dominant phenotype, the individual in question is homozygous dominant; if the offspring display both dominant and recessive phenotypes, then the individual is heterozygous. z. Dominant- in genetics is a relationship between alleles of a gene, in which one allele masks the expression (phenotype) of another allele at the same locus. aa. Recessive- an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele) and never in a heterozygous genotype bb. Xlinked- is the phenotypic expression of an allele related to the chromosomal sex of the individual. X-linked recessive traits are expressed in all heterogametics, but are only expressed in those homogametics that are homozygous for the recessive allele. 2. List the characteristics for a good genetic model system. They are easy to breed, have relatively short life cycles, and their genetic analysis is fairly straightforward. 3. Describe how the fundamental biological process of cell division or meiosis was further understood because of the use of genetic model systems. 4. State the genotypic characteristic for a human somatic cell, and human meiotic cell that is fully differentiated. Include in your answer what the genotype would be for female

and male individuals. 5. Describe the structure and function of a chromosome. In your description include the concept of a gene. 6. Given a species that has 5 chromosomes diagram: 1) cell division for a somatic cell in this organism, 2) meiosis for this organism. In the diagram define and label cellular molecules that are required for cell division (Ex: chromosomes, spindle, kinetochore etc). 7. Define and describe the cell cycle checkpoints we discussed in class. Diagram the cell cycle and when the cell cycle checkpoints are active relative to other cellular events. Think about what could occur at the cellular level if the cell cycle checkpoint was aberrant. 8. What cellular events during meiosis lead to genetic diversity within populations? 9. State Mendels postulates. Use a diagram of chromosomes and meiosis to describe these postulates. 10. If the green pea pod allele (G) is dominant to the yellow allele (g), what would a cross between two heterozygous plants be expected to produce in terms of genotypes and phenotypes of the F1 generation? 11. If a mouse has a dominant phenotype (P), how can one determine if the genotype is homozygous (PP) or heterozygous (Pp)? 12. Mendel crossed true breeding pea plants with violet flowers and yellow cotyledons with plants having white flowers and green cotyledons. All the F1 plants had violet flowers and yellow cotyledons. a. What is the genotype of the P1 and F1 generation? b. When the F1 generation is selfcrossed, what is the phenotypic and genotypic ratio for the F2 generation.

13. In a cross between two individuals BbGG X Bbgg how would one set up the Punnet square to determine the predicted genotypes for the offspring from this cross? 14. Plants with round seeds were crossed with plants with wrinkled seeds and the following offspring were obtained: 220 round and 180 wrinkled. What is the most probable genotype of each parent? 15. What is the probability that two parents who are heterozygous for the recessive trait of albinism will have an albino offspring? 16. Determine the phenotypic ratio for the trihybrid cross AaBbCc X AAbbcc

1. Define the following: a. Proband- denotes a particular subject (person or animal) being studied or reported on.[1] On pedigrees, the proband is noted with an arrow and the box (male) or circle (female) shaded accordingly. b. Pedigree- can refer to the lineage or genealogical descent of people, whether documented or not, or of animals c. Incomplete Dominance-a form of intermediate inheritance in which one allele for a specific trait is not completely dominant over the other allele. This results in a combined phenotype. d. Codominance- a relationship between two alleles of a gene. It occurs when the contributions of both alleles at a single locus are visible and do not overpower each other in the phenotype. (Blood type) e. Epistasis- the phenomenon where the effects of one gene are modified by one or several other genes, which are sometimes called modifier genes. f. X Linked- see above g. Lethal Alleles- Alleles that cause an organism to die only when present in homozygous condition h. Nomenclature- applies to either a list of names or terms i. Sex Influenced Inheritance- see x-linked j. Sex Limited Inheritance- Expression of a phenotype in only one sex; may be due to either a sex-linked or autosomal gene.

k. Conditional Alleles- An allele whose expression is dependent on an environmental variable. For instance, ch allele coding for Himalayan coat colour in rabbits produces the correct form of an enzyme involved in pigment production at low temperatures causing dark tips of ears, paws, and face. In warmer areas of the body the allele fails to produce fully functional enzyme and the colour of fur is white. l. RNA interference- (RNAi) is a process within living cells that moderates the activity of their genes. Historically, it was known by other names, including co-suppression, post transcriptional gene silencing (PTGS), and quelling. 2. Describe the phenotype of the following disease, state the mode of inheritance and what if locus heterogeneity is a component of the disease. a. Cystic Fibrosis b. Duchene Muscular Dystrophy c. Huntington Disease d. Marfan Syndrome e. Hemophilia f. Tay-Sacs g. Achondropolasia h. Albinism i. Sickle Cell Anemia j. Hutchinson-Gilford Progeria k. Bombay Syndrome 3. Describe what is meant by Molecular nature of a mutation and how that can relate to a phenotype. Refer to Table 4.1 to understand the concept further. 4. A female and male are interested in having a child yet they know that Sickle Cell Anemia runs in their family. The female has a maternal cousin that has the disease. The male has a paternal aunt that has the disease. No other members of the family have the disease a. Draw a pedigree for the family.

b. Assign known or potential genotypes for each member of the pedigree c. What is the likelihood that they are both carriers for Sickle Cell Anemia? d. What is the likelihood that they will have a child with Sickle Cell Anemia? 5. A female who had blood type AB (IAIB) had a child with a male who has blood type B (IBIO). a. What is the ratio of their offspring that have blood type B? b. If these individuals determined that they are both carriers for a mutation in the FUT1 Gene (and thus cannot produce H factor), what is the likelihood that one of their offspring will have blood type AB? Study Guide 3-4 Spring 2012 Genetics Dr. Padilla c. In terms of allele and red blood cell surface antigens, what is a difference between an individual who has blood type A in comparison to one with blood type B? 6. Given the following family information draw a pedigree: A male, who is the oldest of three children, has two sisters that are identical twins. These siblings have a paternal grandfather who died of cystic fibrosis. There are no other known cases of cystic fibrosis in the family. a. What is the likelihood that their father is a carrier for cystic fibrosis? b. What is the likelihood that the male is a carrier for cystic fibrosis? 7. Given the pedigree below, what can be said about the genotype for the female with type O blood? In your answer state why phenotypically she is blood type O. 8. In considering recessive alleles, state a case in which the heterozygote has a phenotype that differs from that of the homozygous wild-type and the homozygous mutant. 9. Who is Thomas Morgan and what were his contributions to Genetics?

10. A male fly with the white-eye phenotype was crossed with a female fly with red-eye phenotype. The following are numbers for the F1 generation. Using this information what is the genotype of the P0 generation? a. 92 males, red eye b. 103 males, white eye c. 94 females, red eye d. 87 females, white eye e. What is the genotype of the above F1 generation f. What chromosome is the white eye gene located