INTRODUCTION TO GENETICS From Proteins to Mendel Supplementary Materials Teacher’s Reference 2.1.2. About blending theory of heredity Blending theory was the commonly held belief that characteristics were mixed in each generation. For example, breeding two horses, one with a light-coloured coat, the other dark, would result in offspring that were all intermediate in coat colour. If this held true, then eventually all organisms would become more alike in each generation. Although this theory persisted for many years, it was eventually supplanted by the work of Mendel and the modern geneticists.1 Pre-Mendelian theory of heredity proposing that hereditary material from each parent mixes in the offspring; once blended like two liquids in solution, the hereditary material is inseparable. And the offspring’s traits are the result of this blend. Individuals of a population should reach a uniform appearance after many generations Once traits blended, they cannot be separated out to appear again in later generations QUESTIONS TO THINK ABOUT AND DISCUSS AT THE END Why do you think Mendel is known as the Father or genetics?” (Because he discovered the basic underlying principles of heredity) “Do you think that using mathematics to work out the data was usual in Mendel’s time? (No, he was the first one to made use ot this scientific language) 1 Blending inheritance is similar to the modern legitimate idea of incomplete dominance and the terms are rarely, but incorrectly, used interchangeably by some. However, incomplete dominance results in blending only of the phenotype, keeping the alleles within the heterozygote distinct (and, thus still inheritable in successive generations), whereas the theory of blending inheritance referred to an actual blending of the genetic material (i.e. in modern terms, alleles would blend together to form a completely new allele).**** To be used when explaining incomplete dominance.. Rosa Macaya IES Pobla de Segur 1 INTRODUCTION TO GENETICS From Proteins to Mendel Supplementary Materials Teacher’s Reference What do you think Mendel carried out his breeding experiments with pea plants? (Because he could observe inheritance patterns in up two generations a year) Think and compare how scientific findings are communicate and published today and in Mendel’s time. (Here can be told that today the language of science is English and that should help the communication. Remember Mendel published his work in German. Relate this fact with other cases, like Wegener…) Rosa Macaya IES Pobla de Segur 2 INTRODUCTION TO GENETICS From Proteins to Mendel Supplementary Materials Teacher’s Reference 2.1.3.Words Cards for Definition Team Game 01 02 03 04 05 06 07 08 09 10 11 12 13 14 15 Rosa Macaya Hybrid Genetics Gregor Mendel Blending theory Purebred Genes Alleles Genotype Homozygous genotype Heterozygous genotype Phenotype Recessive allele Dominant allele Principle of segregation Principle of independent assortment IES Pobla de Segur 3 INTRODUCTION TO GENETICS From Proteins to Mendel Supplementary Materials Teacher’s Reference 2.1.4. Glossary of Mendelian Genetic Terms 1. Alleles alternate forms or varieties of a gene. The alleles for a trait occupy the same locus or position on homologous chromosomes and thus govern the same trait. However, because they are different, their action may result in different expressions of that trait. 2. Blending theory an incorrect 19th century theory about the inheritance of characteristics. It proposed that inherited traits blend from generation to generation. Through his plant cross-breeding experiments, Gregor Mendel proved that this was wrong 3. Chromosomes tread-like, gene-carrying bodies in the nucleus of a cell. Chromosomes are composed primarily of DNA and protein. They are visible only under magnification during certain stages of cell division. Humans have 46 chromosomes in each somatic cell and 23 in each sex cell. 4. Codominance the situation in which two different alleles for a trait are expressed unblended in the phenotype of heterozygous individuals. Neither allele is dominant or recessive, so that both appear in the phenotype or influence it. Type AB blood is an example. Such traits are said to be codominant. 5. Cross-pollination the mating of two genetically different plants of the same species. Usually, the term is used in reference to the crossing of two pure breeding (homozygous) plants. 6. Dominant allele an allele that masks the presence of a recessive allele in the phenotype. Dominant alleles for a trait are usually expressed if an individual is homozygous dominant or heterozygous. 7. f1 generation Rosa Macaya IES Pobla de Segur 4 INTRODUCTION TO GENETICS From Proteins to Mendel the first offspring (or filial) generation. Supplementary Materials Teacher’s Reference The next and subsequent generations are referred to as f2, f3, etc. 8. Genes units of inheritance usually occurring at specific locations, or loci, on a chromosome. Physically, a gene is a sequence of DNA bases that specify the order of amino acids in an entire protein or, in some cases, a portion of a protein. A gene may be made up of hundreds of thousands of DNA bases. Genes are responsible for the hereditary traits in plants and animals. 9. Genetics the study of gene structure and action and the patterns of inheritance of traits from parent to offspring. Genetic mechanisms are the underlying foundation for evolutionary change. Genetics is the branch of science that deals with the inheritance of biological characteristics. 10. Genotype the genetic makeup of an individual. Genotype can refer to an organism's entire genetic makeup or the alleles at a particular locus. . 11. Heterozygous a genotype consisting of two different alleles of a gene for a particular trait (Aa). Individuals who are heterozygous for a trait are referred to as heterozygote. 12. Homologous chromosomes chromosomes that are paired during the production of sex cells in meiosis. Such chromosomes are alike with regard to size and also position of the centromere. They also have the same genes, but not necessarily the same alleles, at the same locus or location. 13. Homozygous having the same allele at the same locus on both members of a pair of homologous chromosomes. Homozygous also refers to a genotype consisting of two identical alleles of a gene for a particular trait. An individual may be Rosa Macaya IES Pobla de Segur 5 INTRODUCTION TO GENETICS From Proteins to Mendel Supplementary Materials Teacher’s Reference homozygous dominant (AA) or homozygous recessive (aa). Individuals who are homozygous for a trait are referred to as homozygote. 14. Hybrids offspring that are the result of mating between two genetically different kinds of parents--the opposite of purebred. 15. Intermediate expression the situation in which a heterozygous genotype results in a phenotype that is intermediate between those resulting from the homozygous genotypes. The mid-range baritone male voice is an example. 16. Meiosis cell division in specialized tissues of ovaries and testes which results in the production of sperm or ova. Meiosis involves two divisions and results in four daughter cells, each containing only half the original number of chromosomes--23 in the case of humans. 17. Mendelian genetics inheritance patterns which can be explained by simple rules of dominance and recessiviness of genes. 18. Phenotype the observable or detectable characteristics of an individual organism--the detectable expression of a genotype. 19. Principle of independent assortment Gregor Mendel's second principle of genetic inheritance. It states that different pairs of genes are passed to offspring independently so that new combinations of genes, present in neither parent, are possible. In other words, the distribution of one pair of alleles does not influence the distribution of another pair. The genes controlling different traits are inherited independently of one another. 20. Principle of segregation 21. Principle of segregation Gregor Mendel's first principle of genetic inheritance. It states that, for any particular trait, the pair of genes of each parent separate (during the formation of sex cells) and only one gene from each parent passes on to an Rosa Macaya IES Pobla de Segur 6 INTRODUCTION TO GENETICS From Proteins to Mendel Supplementary Materials Teacher’s Reference offspring. In other words, genes occur in pairs (because chromosomes occur in pairs). During gamete production, the members of each gene pair separate, so that each gamete contains one member of each pair. During fertilization, the full number of chromosomes is restored, and members of gene pairs are reunited. 22. Probability the likelihood that a specific event will occur. Probability is usually expressed as the ratio of the number of actual occurrences to the number of possible occurrences. 23. Punnett square a simple graphical method of showing all of the potential combinations of offspring genotypes that can occur and their probability given the parent genotypes. See example below. Punnett squares are commonly used by genetics counsellors to predict the odds of a couple passing on particular inherited traits. 24. Purebred offspring that are the result of mating between genetically similar kinds of parents--the opposite of hybrid. Purebred is the same as true breeding. 25. Recessive allele an allele that is masked in the phenotype by the presence of a dominant allele. Recessive alleles are expressed in the phenotype when the genotype is homozygous recessive (aa). 26. Sex cell Rosa Macaya IES Pobla de Segur 7 INTRODUCTION TO GENETICS From Proteins to Mendel Supplementary Materials Teacher’s Reference a gamete, either a sperm or an ovum. Sex cells are produced by the meiosis process. 27. Somatic cell any cell in the body except those directly involved with reproduction. Most cells in multicellular plants and animals are somatic cells. They reproduce by mitosis. 28. Unit inheritance Gregor Mendel's idea that the characteristics of parents are passed on to descendants unchanged as units. In other words, the hereditary material of any organism is made up of discrete units (now called genes). 29. Zygote a "fertilized" ovum. More precisely, this is a cell that is formed when a sperm and an ovum combine their chromosomes at conception. A zygote contains the full complement of chromosomes (in humans 46) and has the potential of developing into an entire organism. Rosa Macaya IES Pobla de Segur 8 INTRODUCTION TO GENETICS From Proteins to Mendel Supplementary Materials Teacher’s Reference 2.2.1. How to solve genetics problems These steps can help organize student’s attack on a genetic problem. and of course, unless student understand the terms, such as homozygous, heterozygous, dominant, recessive, allele, and so on, he/she cannot begin to think of working problems. 1. Read the problem. 2. Determine what is the relationship between the traits, dominant and which are recessive, codominant... 3. Are any letters assigned to the genes? If not, you have to. We usually take the dominant characteristic and use the first letter of that word. For example, if brown hair is dominant over blond hair, we would pick B for the dominant gene, and small b for the recessive normal allele. If the alleles are codominant you do not need to use capital/low case letters. 4. Determine, if possible, the genotypes of the parents. In some problems this information is given, or at least implied. Sometimes you have to deduce it from other information given. Write it down so that you can remember what it is, e.g. Bb. 5. Determine all the possible kinds of gametes that can be made by each parent. Be careful; remember that a gamete can ordinarily receive only one gene of a pair of alleles. 6. Make a Punnett square; using each of the gametes for one parent across the top of each column, those of the other parent go vertically. If you have done step 5 properly you shouldn’t have any trouble with this step. Rosa Macaya IES Pobla de Segur 9 INTRODUCTION TO GENETICS From Proteins to Mendel Supplementary Materials Teacher’s Reference 7. Work the cross carefully. 8. Now read the problem again. Find out exactly what it is asking for. 9. In most problems, these steps should get you through adequately. Some are slightly altered – for example, if the genotype of one of the parents is unknown, and that is what the problem wants you to discover. You may assign that parent something like A? or ?? genotype and see if that helps. Put the offspring genotypes in the square and work backward. 10. Finally, learn to translate a sentence as, “Mary is normally pigmented but had an albino father”, into its logical consequence: “Mary is heterozygous for albinism” and then into “Mary is Cc”. How to write the genetic report The report is divided up into three parts. Part I: content of Drinkwater Family’s pedigree. (Students have to review lesson 1.1. and probably re-read the story about the Drinkwater family. They can look at the pedigree done in lesson 1.2. and from that and with the help of the sheet “how to create a pedigree chart” they can create the new one. This pedigree has to show: a) All family members mentioned b) All affected individuals c) All known carriers and suspected carriers. Part II: Paragraph about the Drinkwater Family's Haemophilia Explain who has the disorder and who does not Explain who in the family is a carrier and who could be a carrier Rosa Macaya IES Pobla de Segur 10 INTRODUCTION TO GENETICS From Proteins to Mendel Supplementary Materials Teacher’s Reference Explain the risk of the next child having the disorder or being a carrier of the disorder (a Punnett square may be used to help explain this section) What chromosome is the mutation is located in? Part III: Information about Haemophilia. In order to complete this section the student can revise the poster they did in lesson 1.2. Explain how Haemophilia is inherited and what a sex-linked trait is Explain the difference between haemophilia A and haemophilia B* Explain the signs and symptoms of haemophilia Explain the treatment options for haemophilia, including future treatments being researched (hypothetical) or genetic screening… How to create a Punnet square Genetics should help to understand how can be predicted the likelihood of inheriting traits. One of the easiest ways to calculate the probability of inheriting a trait is the called Punnett square. Reginald Punnett was a 20th century British geneticist. This square is a simple graphical way of discovering all of the potential combinations (probability) of genotypes that can occur in children, given the progenitor’s genotypes. 1. Draw a grid of perpendicular lines: 2. Write one parent’s genotype across the top and the other’s parent down the left side. Example: Father’s genotypes RR Mother’s genotypes rr. Write only one letter in each box. It does not matter which parent is on the side Rosa Macaya IES Pobla de Segur 11 INTRODUCTION TO GENETICS From Proteins to Mendel R Supplementary Materials Teacher’s Reference R r r 3. Fill in the empty boxes by copying the row- and columm-head letters across or down. r r R Rr Rr R Rr Rr 4. Now read the “table”. In the example we crossed RR x rr (homozygous x homozygous) and the 100% of the offspring will be heterozygous. Each box will expressed 25% or ¼ of the offspring’s genotype. So if the parents were heterozygous, the results will be 50% Rr, 25% RR and 25% rr. Rosa Macaya IES Pobla de Segur 12