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Intro to Genetics Chapter 11.1-11.3 p. 306-322 Chapter 11 and 14 Genetics 2010 1 Key terms • Genetics • • • • • • • • • • • • • Fertilization Trait Hybrid Gene Allele Principle of dominance Segregation Gamete Probability Homozygous Heterozygous Phenotype Genotype • • • • • • Punnett square Independent assortment Incomplete dominance Codominance Multiple allele Polygenic trait Chapter 11 and 14 Genetics 2010 2 Review? Heredity: What is a gene? is a segment of DNA that is located in a chromosome and that codes for a specific trait Crossing over: How does it contribute to the physical differences between siblings? exchange of genetic material between homologous chromosomes genetic recombination Chapter 11 and 14 Genetics 2010 3 THINK ABOUT IT What is an inheritance? It is something we each receive from our parents—a contribution that determines our blood type, the color of our hair, and so much more. What kind of inheritance makes a person’s face round or hair curly Where does an organism get its unique characteristics An individual’s characteristics are determined by factors that are passed from one parental generation to the next. The delivery of characteristics from parent to offspring is called heredity. The scientific study of heredity, known as genetics, is the key to understanding what makes each organism unique Chapter 11 and 14 Genetics 2010 4 leucism • This alligator is one of 18 white alligators discovered southwest of New Orleans in 1987 by a fisherman. • How is he different from alligators you have seen? • It is not a different species and it is not albino. • Albinos have off-white or yellowish skin and colorless irises or look pink • This alligator is more rare than one that would be an albino. Chapter 11 and 14 Genetics 2010 5 Need to know!! 1. Describe how Mendel was able to control his pea plants were pollinated. 2. Describe the steps in Mendel's experiments on true-breeding garden peas. 3. Distinguish between dominant and recessive traits. 4. State two laws of heredity that were developed from Mendel’s work 5. Describe how Mendel's results can be explained by scientific knowledge of genes and chromosomes Chapter 11 and 14 Genetics 2010 6 Mendel’s Legacy • Genetics is the field of biology devoted to understanding how characteristics or traits are transmitted from parents to offspring. Genetics was founded with the work of Gregor Johann Mendel. Chapter 11 and 14 Genetics 2010 7 Gregor Mendel1822-1884 • Studied science and mathematics (statistics) • Studied heredity (characteristics from parents to offspring) • Studied garden peas, characteristics, flower color, height, pod appearance, texture or traits • A trait is a specific characteristic of an individual, such as seed color or plant height, and may vary from one individual to another. Led to basic principles of genetics • • Web demo holt http://my.hrw.com/index.jsp Chapter 11 and 14 Genetics 2010 8 Mendel’s Methods • • Controlled how plants were pollinated Or how the pollen grains produced in the male reproductive parts of a flower (anthers/stamen) to the female reproductive parts of the flower (stigma/pistle) Two types: 1. Self- pollination 2. Cross pollination Chapter 11 and 14 Genetics 2010 9 Chapter 11 and 14 Genetics 2010 10 Mendel’s Methods cont: 1. Self- pollination- occurs when pollen is transferred from the anthers of a flower to the stigma of either that flower or another flower on the same plant. *Can be prevented if remove male parts 2. Cross-pollination- occurs between flowers of two plants, can be specific for traits *Mendel used this method to study plants Web demo holt Chapter 11 and 14 Genetics 2010 11 Mendel’s Experiments • True-breeding or pure for a trait will produce offspring with a trait of self-pollinate Ex: yellow pod x yellow pod = yellow pod • Cross pollinated pairs of plants that were true-breeding for one trait and then another • True-breeding parents were P generation • First generations F1 • Second generations F2 • Mendel’s crosses Web demo holt Chapter 11 and 14 Genetics 2010 12 Chapter 11 and 14 Genetics 2010 13 Genes and Alleles From these results, Mendel drew two conclusions. His first conclusion formed the basis of our current understanding of inheritance. An individual’s characteristics are determined by factors that are passed from one parental generation to the next. Scientists call the factors that are passed from parent to offspring genes. Each of the traits Mendel studied was controlled by one gene that occurred in two contrasting varieties. These gene variations produced different expressions, or forms, of each trait. The different forms of a gene are called alleles Chapter 11 and 14 Genetics 2010 14 Dominant and Recessive Traits Mendel’s second conclusion is called the principle of dominance. This principle states that some alleles are dominant and others are recessive. An organism with at least one dominant allele for a particular form of a trait will exhibit that form of the trait. An organism with a recessive allele for a particular form of a trait will exhibit that form only when the dominant allele for the trait is not present. Chapter 11 and 14 Genetics 2010 15 Segregation How are different forms of a gene distributed to offspring? During gamete formation, the alleles for each gene segregate from each other, so that each gamete carries only one allele for each gene. Chapter 11 and 14 Genetics 2010 16 Results and conclusions • Pair of factors (genes) controlled for traits • Only one trait was visible in F1 generation (dominant factor) • Traits appeared in the F2 generations in 3:1 ratio (recessive factor) • Law of segregation- pair of factors are separated during formation of gametes or meiosis • Law of Independent Assortment- factors separate independently of one another during the formation of gametes (meiosis) Chapter 11 and 14 Genetics 2010 17 Chapter 11 and 14 Genetics 2010 18 Chapter 11 and 14 Genetics 2010 19 Lesson Overview 11.2 Applying Mendel’s Principles Chapter 11 and 14 Genetics 2010 20 Key questions? • Differentiate between the genotype and the phenotype of an organism • Explain how probability is used to predict the results of genetic crosses • Use a Punnett square to predict the results of a monohybrid and dihybrid genetic crosses • Explain how a testcross is used to show the genotype of an individual whose phenotype expresses the dominant trait • Differentiate a monohybrid cross from a dihybrid cross Chapter 11 and 14 Genetics 2010 21 Genetic Crosses • Today, geneticists rely on Mendel’s work to predict the likely outcome of genetic crosses. In this section you will learn how to predict the probable genetic makeup and appearance of offspring resulting from specified crosses. Chapter 11 and 14 Genetics 2010 22 Probability and Punnett Squares How can we use probability to predict traits? Punnett squares use mathematical probability to help predict the genotype and phenotype combinations in genetic crosses. Mendel realized that the principles of probability could be used to explain the results of his genetic crosses. Probability is the likelihood that a particular event will occur. Chapter 11 and 14 Genetics 2010 23 Probability and Punnett Squares For example, there are two possible outcomes of a coin flip: The coin may land either heads up or tails up. The chance, or probability, of either outcome is equal. Therefore, the probability that a single coin flip will land heads up is 1 chance in 2. This amounts to 1/2, or 50 percent If you flip a coin three times in a row, what is the probability that it will land heads up every time? Each coin flip is an independent event, with a one chance in two probability of landing heads up. Therefore, the probability of flipping three heads in a row is: 1/2 × 1/2 × 1/2 = 1/8 Past outcomes do not affect future ones. Just because you’ve flipped 3 heads in a row does not mean that you’re more likely to have a coin land tails up on the next flip . Chapter 11 and 14 Genetics 2010 24 Probability • The likelihood that a specific event will occur. • Can be expressed as a: – Decimal – Percentage – Fraction Probability=(# of time event expected to happen)/ (# of time it could happen) Chapter 11 and 14 Genetics 2010 25 Chapter 11 and 14 Genetics 2010 26 Using Segregation to Predict Outcomes The way in which alleles segregate during gamete formation is every bit as random as a coin flip. Therefore, the principles of probability can be used to predict the outcomes of genetic crosses. Chapter 11 and 14 Genetics 2010 27 Terms 1. Genotype- genetic makeup, alleles that are inherited from parents (PP, Pp, pp) 2. Phenotype- physical appearance (color, height), does not always resemble genotype due to environment factors 3. Homozygous- alleles are the same, can be dominant (PP) or recessive (pp) 4. Heterozygous- alleles are different (Pp) Chapter 11 and 14 Genetics 2010 28 More terms 1. Monohybrid cross- cross with only one characteristic, offspring are monohybrids 2. Punnett square- used to do monohybrid crosses, used to predict outcomes 3. Genotypic ratio- ratio of genotypes that appear (1BB: 2Bb: 1bb) 4. Phenotypic ratio- ratio of phenotypes that appear (3 brown : 1 black) 5. Test cross- unknown organism is crosses with a homozygous recessive Chapter 11 and 14 Genetics 2010 29 How To Make a Punnett Square for a OneFactor Cross Write the genotypes of the two organisms that will serve as parents in a cross. In this example we will cross a male and female osprey that are heterozygous for large beaks. They each have genotypes of Bb. Bb and Bb Chapter 11 and 14 Genetics 2010 30 How To Make a Punnett Square Draw a table with enough spaces for each pair of gametes from each parent. Enter the genotypes of the gametes produced by both parents on the top and left sides of the table. Chapter 11 and 14 Genetics 2010 31 How To Make a Punnett Square Fill in the table by combining the gametes’ genotypes. Chapter 11 and 14 Genetics 2010 32 How To Make a Punnett Square Determine the genotypes and phenotypes of each offspring. Calculate the percentage of each. In this example, three fourths of the chicks will have large beaks, but only one in two will be heterozygous. Chapter 11 and 14 Genetics 2010 33 Chapter 11 and 14 Genetics 2010 34 Types of crosses: A. Homozygous x Homozygous (PP x pp) B. Homozygous x Heterozygous (PP x Pp) (complete dominance) C. Heterozygous x Heterozygous (Pp x Pp) D. Test cross (pp x P_) Chapter 11 and 14 Genetics 2010 35 Types of crosses: E. Incomplete dominance- F1 offspring has a phenotype in between that of parents, Cross a white (rr) flower with a Red flower (RR)= pink flower (Rr) Chapter 11 and 14 Genetics 2010 36 Types of crosses F. Codominance-both alleles fro a gene are expressed on a heterozygous offspring, neither trait is dominant or recessive, blood types Chapter 11 and 14 Genetics 2010 37 Independent Assortment How do alleles segregate when more than one gene is involved? The principle of independent assortment states that genes for different traits can segregate independently during the formation of gametes. Mendel wondered if the segregation of one pair of alleles affects another pair. Mendel performed an experiment that followed two different genes as they passed from one generation to the next. Because it involves two different genes, Mendel’s experiment is known as a two-factor, or dihybrid, cross. Single-gene crosses are monohybrid crosses. Chapter 11 and 14 Genetics 2010 38 Dihybrid crosses • Two characteristics are tracked, results are dihybrid Types of crosses( 4 x4 box) 1. Homozygous RRYY x Homozygous rryy 2. Heterozygous RrYy x Heterozygous RrYy (9:3:3:1) Chapter 11 and 14 Genetics 2010 39 Chapter 11 and 14 Genetics 2010 40 A Summary of Mendel’s Principles What did Mendel contribute to our understanding of genetics? Mendel’s principles of heredity, observed through patterns of inheritance, form the basis of modern genetics At the beginning of the 1900s, American geneticist Thomas Hunt Morgan decided to use the common fruit fly as a model organism in his genetics experiments. The fruit fly was an ideal organism for genetics because it could produce plenty of offspring, and it did so quickly in the laboratory. Before long, Morgan and other biologists had tested every one of Mendel’s principles and learned that they applied not just to pea plants but to other organisms as well. The basic principles of Mendelian genetics can be used to study the inheritance of human traits and to calculate the probability of certain traits appearing in the next generation. Chapter 11 and 14 Genetics 2010 41 Human Heredity Chapter 14 p. 390-410 Chapter 11 and 14 Genetics 2010 42 A little Q and A Can you ID some parts to the chromosomes - centromere, chromatids How many chromosomes are found in the normal human genome 46 (2n) Each chromosome contains many genes Chapter 11 and 14 Genetics 2010 43 A little Q and A Differences between dominant and recessive dominance: when an allele that masks the presence of another allele for the same characteristic Recessive: when an allele that is masked by the presence of another allele for that same characteristic Can you give examples? Chapter 11 and 14 Genetics 2010 44 Objectives • Distinguish between sex chromosomes and autosomes • Explain the role of sex chromosomes in sex determination • Describe how an X or Y linked gene affects the inheritance of genes in linkage groups • Distinguish between chromosomes mutations and gene mutations Chapter 11 and 14 Genetics 2010 45 Chromosomes and Inheritance • Francis Collins and his lab group discovered the gene responsible for Cystic Fibrosis. CS is often fatal genetic disorder. Thick, sticky mucus builds up and blocks ducts in the pancreas and intestines and causes difficulty in breathing. • In this chapter we will learn how diseases and characteristics are inherited and expressed. Chapter 11 and 14 Genetics 2010 46 Chromosomes • 1900s Thomas Hunt Morgan experimented with Drosophila melanogaster • Observed that they had 4pairs of chromosomes • 3 pairs were identical in male and female • The fourth pairs was the sex chromosomes XX female, XY male Chapter 11 and 14 Genetics 2010 47 Sex chromosomes and autosomes • Sex chromosomes- contain genes that determine the sex (gender) of an individual • Autosomes- non sex chromosomes Sex determinationSex chromosomes pair during meiosis Child will always receive a x chromosome from the mother SRY gene- sex-determining Region Y, if have this gene hormones are released and testes form and if not ovaries form Chapter 11 and 14 Genetics 2010 48 Can you determine the probability of the sex of the child? 1. Cross a Male and a Female XY x XX 2. Set up your punnett square 3. What are your ratios? 4. Who determines the sex of the child? Chapter 11 and 14 Genetics 2010 49 Sex Chromosomes This Punnett square illustrates why males and females are born in a roughly 50 : 50 ratio. All human egg cells carry a single X chromosome (23,X). However, half of all sperm cells carry an X chromosome (23,X) and half carry a Y chromosome (23,Y). This ensures that just about half the zygotes will be males and half will be females. Chapter 11 and 14 Genetics 2010 50 Sex Chromosomes More than 1200 genes are found on the X chromosome, some of which are shown. The human Y chromosome is much smaller than the X chromosome and contains only about 140 genes, most of which are associated with male sex determination and sperm development. Chapter 11 and 14 Genetics 2010 51 Effects of Gene location • Sex-linked genes and traits some genes are located on the sex chromosomes Ex: in DM the gene for eye color is located on the X chromosome, Y chromosome lacks this gene Do this cross: 1. (p1) cross an X(R ) X(R ) female red eye with an X(r ) Y male white eye, what is the F1 generation? Now take two from the F1 and cross them and see what you get? Chapter 11 and 14 Genetics 2010 52 Sex- linked genes and traits • The results of these experiments showed Morgan not only genes reside on chromosomes but that red eye color is located on the X chromosome • Genes can be both x linked or y linked • Sex linked trait –is coded for by an allele on a sex chromosome Chapter 11 and 14 Genetics 2010 53 Linked Genes • Pairs of genes that tend to be inherited together • Genes are linked because they are found on the same chromosome • Crossing over during meiosis does not create new genes or delete old ones, just rearranges alleles • Linkage group- set of linked genes Chapter 11 and 14 Genetics 2010 54 Chromosome mapping • The farther apart the genes are located on a chromosome, increases the chance of cross-over • Chromosome map- diagram that shows the linear order of genes on a chromosome • Map unit- frequency of crossing-over • Today modern technology has made it easier to map genes (human genome project) Chapter 11 and 14 Genetics 2010 55 Chapter 11 and 14 Genetics 2010 56 Mutations • Change in the nucleotide-base sequence of a gene or DNA molecule • Germ-cell: occurs in an organism’s gametes, can be passed on to an offspring • Somatic-cell: body cell and can affect the organism, skin cancer, leukemia, can not be inherited!! • Lethal mutations- cause death before birth • Can mutations be beneficial to the individual? Chapter 11 and 14 Genetics 2010 57 Chromosome Mutations Two ways 1. change in structure of chromosome 2. adding or loosing a chromosome • Deletion- loss of a piecd of a chromosome due to breakage • Inversion- segments breaks off, flips around and reattaches • Translocation- breaks off and reattaches to non homologous chromosome • Nondisjunction- chromosome fails to separate from its homologous during meiosis, get and extra copy (trisomy 21) Chapter 11 and 14 Genetics 2010 58 Gene Mutations • Point mutations- substitution, addition, or removal of single nucleotide • Substitution- one nucleotide replaces another • Frameshift mutation- it just shifts downcreates new amino acids • Insertion mutations- addition of a gene and framshift occurs • ATCGA Chapter 11 and 14 Genetics 2010 59 Chapter 11 and 14 Genetics 2010 60 Chapter 11 and 14 Genetics 2010 61 Inheritance patterns and human genetics Human Genetics 12.2 241-249 Chapter 11 and 14 Genetics 2010 62 objectives • Analyze pedigrees to determine how genetic traits and genetic disorders are inherited • Summarize the different patterns of inheritance seen in genetic traits and genetic disorders • Explain the inheritance of ABO blood groups • Compare sex-linked traits with sex-influenced traits • Explain how geneticists can detect and treat genetic disorders Chapter 11 and 14 Genetics 2010 63 Human Genetics • This section investigates how genetics analyze genetic data from families to track the inheritance of human genes. It also explores the genetic and environmental factors that influence human genetic traits and disorders, and discusses how geneticists detect and treat human genetic disorders. Chapter 11 and 14 Genetics 2010 64 Inheritance of traits Why do geneticists study human genetic traits? To trace genetic diseases from generation to generation Study the phenotypes of family members in a pedigree Pedigrees- diagram that shows how a trait is inherited over several generations Chapter 11 and 14 Genetics 2010 65 This will be on OGT Chapter 11 and 14 Genetics 2010 66 Honors:Chapter 9 Patterns of Inheritance 67 Honors:Chapter 9 Patterns of Inheritance 68 Patterns of inheritance- Expression of genes over generations • Autosomal traits- appear in both sexes equally • Sex-linked- tend to see only in males, most are recessive • Carriers- they have one copy of the allele but do not have the disease, they do not express the disease but can pass it to offspring -Most are born from normal parents (phenotypically normal) who carries the recessive gene (allele) -Inbreeding- increases the chances of expression of recessive traits Chapter 11 and 14 Genetics 2010 69 inherited disorders Dominant Disorders- only need one trait 1. achondroplasis- dwarfism 2. Huntington’s – mental deterioration, middle ages Less likely to be passes if deadly – don’t reproduce Honors:Chapter 9 Patterns of Inheritance 70 Genetic traits and disorders • Genetic disorders are diseases that have genetic origin • Polygenic inheritance- characteristics are influenced by many genes – Skin color (3-6 genes), eye color, height Complex characters-influenced strongly both by the environment and by genes Skin color is both polygenic and complex, cancers Chapter 11 and 14 Genetics 2010 71 Honors:Chapter 9 Patterns of Inheritance 72 single gene may affect many phenotypic characteristics • Pleiotropy- genes influence multiple characteristics example • Fig 9.14 sickle-cell, 1 thing chain events • coloration pattern and crossed eyes of Siamese cats, which are both caused by the same allele. These unrelated characters are caused by the same protein produced by the same allele. • gene that causes pigment color in rats. White rats also have very sensitive eyes and often become blind. Honors:Chapter 9 Patterns of Inheritance 73 Blood Types - Multiple Alleles and Codominance • In humans, there are four blood types (phenotypes): A, B, AB, and O • Blood type is controlled by three alleles. A, B, O • O is recessive, two O alleles must be present for the person to have type O blood • A and B are codominant. If a person receives an A allele and a B allele, their blood type is type AB • Crosses involving blood type often use an I to denote the alleles - see chart. Honors:Chapter 9 Patterns of Inheritance 74 Multiple alleles • Having more than 3 alleles • Blood type ABO, codominance (fig 12.12) – – – – A B AB O Chapter 11 and 14 Genetics 2010 75 Honors:Chapter 9 Patterns of Inheritance 76 Codominant and Multiple Alleles This table shows the relationship between genotype and phenotype for the ABO blood group. It also shows which blood types can safely be transfused into people with other blood types. Alleles IA and IB are codominant. They produce molecules known as antigens on the surface of red blood cells. Individuals with alleles IA and IB produce both A and B antigens, making them blood type AB. Chapter 11 and 14 Genetics 2010 77 More genetic traits Incomplete dominance- trait hair, and curly hair parents have a wavy hair child X- linked- carried on the x chromosomes, color blindness is a recessive x linked Sex-influenced traits- dependent on male or female, baldness, have same genotype, tend to be autosomal, hormones play role Single-allele traits- 200 dominate alleles, Huntington's (HD)autosomal, pass genes before they are aware have it (30-40ys) Chapter 11 and 14 Genetics 2010 78 Detecting Genetic Disease • If you have family history see testing • Genetic screening- Karyotype, blood tests, • Detect 200 disorders in the fetus by amniocentesis • Chorionic villi sampling- take cells from zygote between the mothers uterus and placenta between 8-10wks Chapter 11 and 14 Genetics 2010 79 Karyotype Chapter 11 and 14 Genetics 2010 80 Questions about a Karyotype? 1. What term do we use to describe the pair of chromosomes? 2. How are the chromosomes that make up each number pair similar? 3. What chromosomes are autosomes? 4. Which are sex chromosomes? 5. Can you explain any abnormalities? Chapter 11 and 14 Genetics 2010 81 Abnormal number of sex chromosomes • XXY Klinefelter - male sex organs, testes small, individual is sterile, breast enlargement, other female characteristics, normal intelligence (meiosis in egg/sperm) • XYY normal male- can be taller, (meiosis in sperm) • XXXnormal female –(meiosis egg/ sperm) • XO Turner syndrome (female, egg/sperm), sterile, short stature, artificial estrogen Honors Biology notesChapter 8 2008 82 Honors Biology notesChapter 8 2008 83 Genetic Counseling • Process of informing a person about the parents or potential new Childs genetic makeup • Problems that could affect the offspring • Predict the probability that offspring will be healthy or have a genetic disorder • Risk factors Chapter 11 and 14 Genetics 2010 84 Treating genetic diseases • PKU- lacks the enzyme, causes mental retardation, strict foods, no diet soda, blood tests • CF- pounding on the back 45min sessions Gene therapy- replacing the defective gene Somatic cell gene therapy Germ cell gene therapy- eggs and sperm Is this ethical- how does this affect the next generation??? Chapter 11 and 14 Genetics 2010 85 Environment play a role • Combination of heredity and environment List some examples 1. mother nature, wind, sun, 2. nutrition, exercise, sun 3. nature vs nurture genetic testing- can detect disease-causing alleles Honors:Chapter 9 Patterns of Inheritance 86 What We Have Learned In June 2000 scientists announced that a working copy of the human genome was complete. The first details appeared in the February 2001 issues of the journals Nature and Science. The full reference sequence was completed in April 2003, marking the end of the Human Genome Project—two years ahead of the original schedule. Chapter 11 and 14 Genetics 2010 87 What We Have Learned The Human Genome Project found that the human genome in its haploid form contains 3 billion nucleotide bases. Only about 2 percent of our genome encodes instructions for the synthesis of proteins, and many chromosomes contain large areas with very few genes. Chapter 11 and 14 Genetics 2010 88 What We Have Learned As much as half of our genome is made up of DNA sequences from viruses and other genetic elements within human chromosomes. This chart compares the human genome with other organisms. Chapter 11 and 14 Genetics 2010 89 What We Have Learned More than 40% of our proteins are similar to proteins in organisms such as fruit flies, worms, and yeast. This chart compares the human genome with other organisms. Chapter 11 and 14 Genetics 2010 90 What We Have Learned The Human Genome Project pinpointed genes and associated particular sequences in those genes with numerous diseases and disorders. It also identified about three million locations where single-base DNA differences occur in humans, which may help us find DNA sequences associated with diabetes, cancer, and other health problems. The Human Genome Project also transferred important new technologies to the private sector, including agriculture and medicine. The project catalyzed the U.S. biotechnology industry and fostered the development of new medical applications. Chapter 11 and 14 Genetics 2010 91 New Questions The Human Genome Project worked to identify and address ethical, legal, and social issues surrounding the availability of human genome data and its powerful new technologies. For example, who owns and controls genetic information? Is genetic privacy different from medical privacy? Who should have access to personal genetic information, and how will it be used? In May 2008, President George W. Bush signed into law the Genetic Information Nondiscrimination Act, which prohibits U.S. insurance companies and employers from discriminating on the basis of information derived from genetic tests. Other protective laws may soon follow. Chapter 11 and 14 Genetics 2010 92 What’s Next? The 1000 Genomes Project, launched in 2008, will study the genomes of 1000 people in an effort to produce a detailed catalogue of human variation. Data from the project will be used in future studies of development and disease, and may lead to successful research on new drugs and therapies to save human lives and preserve health. In addition, many more sequencing projects are under way and an ever-growing database of information from microbial, animal, and plant genomes is expected. Perhaps the most important challenge that lies ahead is to understand how all the “parts” of cells—genes, proteins, and many other molecules—work together to create complex living organisms. Chapter 11 and 14 Genetics 2010 93