LEARNING INTENTION • Understand what are basics genetics and identify some common misconceptions. • Explain how DNA relates to structures and function in an organism ACTIVITY Read the article and highlight key ideas within the piece When you're tuning a guitar, the smallest of tweaks can make a big difference to the way the instrument sounds. And in books, small changes in the way the words are put together can change how the story unfolds – little changes can have big effects. The same applies to DNA – the molecule that carries the genetic information you inherited from your parents. Your DNA directly affects how your body is built and functions, and small changes in the information it contains – mutations – can have a big impact. • Often these mutations occur because the processes used to copy DNA are imperfect. Very occasionally the misspellings originate in your own body, but most often they are inherited from parents, who in turn likely inherited them from their parents. The mutations can alter the construction of proteins vital to our bodies, with significant harmful results. On the other hand, many mutations have no noticeable effects at all. • BRCA2 is a very well studied gene because it has a mutation that increases a woman's chance of breast cancer five to ten times. In fact, the gene's name stands for Breast Cancer 2. But recently scientists found a new mutation on the same gene. It also increases the risk of breast cancer but is dangerous in a different way as well – it significantly increases the risk of lung cancer in smokers. This goes to show how two small tweaks in the same gene can carry two very different – and dangerous – tunes. QUESTIONS 1) If you look more like one parent then you have inherited more of that parent’s genes. A) True B) False C) I’m not sure 2) Boys get all their traits from their fathers and girls get their traits from their mothers. A) True B) False C) I’m not sure 3) The genetic information passed on to you from your parents came from their sex cells – that is, from your father's sperm and your mother's egg cells. A) True B) False C) I’m not sure 4) Your genes determine all your characteristics. A) True B) False C) I’m not sure ANSWERS If you look more like one parent then you have inherited more of that parent’s genes. False - Each parent contributes an equal amount of genetic information. Boys get all their traits from their fathers and girls get their traits from their mothers. False - Apart from the genes that determine your sex, you inherit genes from both parents for every characteristic. The genetic information passed on to you from your parents came from their sex cells – that is, from your father's sperm and your mother's egg cells. – True, You begin from a single sperm cell from your father fusing with a single egg cell from your mother. Your genes determine all your characteristics. – False -genes and environment play roughly equal roles in determining people's characteristics. WHY ARE WE SIMILAR BUT DIFFERENT? • Why do different species look and behave differently yet have similar genetic information? • All organisms have different “blueprints” • The blueprint for a living thing is the genetic information contained in the cells that make it up. Nearly every cell in your body contains the exact same genetic information.Your genetic information is found in the Nucleus of a cell WHAT IS YOUR GENETIC INFORMATION? • The genetic information is contained in a complex molecule called DNA – Deoxyribonucleic Acid. “Di – Oxy – rye – bo – new – clay – ic Acid • The information determines what organs and parts should be developed, the order in which these parts should be assembled and how they should work together – VIDEO • https://www.youtube.com/watch?v=zwibgNGe4aY QUESTIONS 1) What is DNA? 2) What is meant by DNA being the blueprint for living things? THE STRUCTURE OF DNA • DNA is a molecule made up of thousands of atoms. It consists of; • Phosphate • Deoxyribo/Deoxyribose sugar (Hence the name DNA ) • Nitrogenous/ nitrogen base pairs DNA • There are 2 phosphate backbones which twist around each other known as a double helix • If you were to straighten out DNA it would look like a ladder • Each “rung” of the ladder is made up of two Nitrogen bases • There are 4 different bases • Adenine = A • Thymine = T • Guanine = G • Cytosine = C Each base can only pair with its specific counterpart. Adenine and Thymine will pair together and Guanine and Cytosine will pair together i.e. A-T/ T-A and G-C/ C-G This is known as the “Base Pairing Rule” NUCLEOTIDES • One phosphate, one deoxyribose sugar and one nitrogenous base are together called a Nucleotide • DNA is made up of repeating nucleotides • This makes nucleotides the basic building blocks of DNA How many nucleotides are there in the picture? ACTIVITY • Look at the section of DNA – Complete the other section of DNA by adding in the correct bases DNA Strand = C A A T G T A C G G C T Complimentary=G T T A C A T G C C G A QUESTION • If 30% of the bases in a particular DNA molecule are guanine (G), what percentage of the bases would be thymine (T)? Explain your reasoning. ACTIVITY • Make a DNA molecule • https://learn.genetics.utah.edu/content/basics/builddna/ LEARNING INTENTION • Explain the role that nucleotide sequences play in making proteins • Explain the connection between proteins and genes • Identify nucleotide sequences and correctly match base pairs GENES • A string of DNA can be wound up or condensed into a structures called chromosomes • One chromosome is made from a single, long string of DNA • Chromosomes are found in the nucleus of cells • “if DNA is yarn, then chromosomes are like the balls of yarn, used to organise DNA” • The human body has 46 chromosomes, a fruit fly has 8 chromosomes GENES • Your genes are inherited from your parents • Genes are packets of genetic information – sections of a DNA molecule that provides instructions for building specific proteins • Different genes contain information for different characteristics/ traits (Code for specific proteins) • Humans have about 20,000 genes VIDEO • https://www.youtube.com/watch?v=5MQdXjRPHmQ ACTIVITY • Complete “Label DNA and Chromosomes” worksheet WHAT ARE PROTEINS • Proteins are molecules that perform different functions • Some proteins will deposit pigment in your eyes, hair and skin – these proteins control your hair colour, eye colour and skin colour • Genes are the recipes for proteins • Proteins are molecules that control traits/ characteristics • Genes code for traits FILL IN THE GAPS Each _______ serves as a recipe for a ________. Another way to say this is that a gene _______ for a _______. This means the gene contains the _________ necessary to make that protein Word Bank: Gene, Protein, Protein, Codes, Information HOW DO NUCLEOTIDES FIT IN? • Genes, being lengths of DNA are made up of a series of nucleotides. • The order and number of these nucleotides makes up the nucleotide sequence e.g. {ATCGTGACGTACTGTACGGAATCA} Gene When a gene codes for a protein, it is the order of the nucleotides that determine which protein is made. • Nucleotides are read in threes which is called a codon • How many codons are present in the above gene? {ATC GTG ACG TAC TGT ACG GAA TCA} CODONS FORMING AMINO ACIDS Codons are read by other molecules to build things called Amino Acids. Amino acid chains once complete are your proteins e.g. {ATC GTG ACG TAC TGT ACG GAA TCA} What does each codon represent? QUESTIONS • Explain why we need to have four types of nitrogenous bases? Why don’t we just have one? • Imagine that a single gene is 5 base pairs long. Calculate the number of different combinations of base pairs that you could have. • 4x4x4x4x4 = 1024 different combinations • Using the codon wheel – identify 2 different codons that code for the same amino acid molecule. If I have ATCGTGACGTACTGTACGGAATCA as my gene and there is a mutation within the code ATCGTGACGTACTGTACAGAATCA. Would anything happen to the protein? LEARNING INTENTIONS • Define the term homologous chromosomes • Explain the difference between diploid and haploid CHROMOSOMES • Each one of your cells has 46 chromosomes. It doesn’t matter if it is a nerve cell or muscle cell. • Your 46 chromosomes are organised into 23 pairs of chromosomes. Each pair contains two chromosomes that are very similar in length and gene location e.g. eye colour is located in the same position. • You get 23 chromosomes from your mum and 23 chromosomes from you dad = 46 chromosomes HOMOLOGOUS CHROMOSOMES • Chromosomes that carry the same genes and are the same size are paired together = Homologous Chromosomes • You have 22 Homologous pairs of chromosomes QUESTION • Is the picture below showing an homologous pair of chromosomes? Why/ why not DIPLOID VS HAPLOID • In your body you have Diploid and Haploid cells – cells that have two copies of each chromosome e.g. skin cell and cells that have single copies of each chromosome e.g. sperm and egg cells (gametes. • Diploid cells have 46 chromosomes whilst Haploid cells have 23 chromosomes QUESTION • Is the cell below Diploid or Haploid? Why/ Why not? • Is the cell below Diploid or Haploid? Why/ Why not? ACTIVITY • Making a Karyotype • https://learn.genetics.utah.edu/content/basics/karyotype/ ACTIVITY • Look at the Karyotype below and identify which chromosome has the 3rd copy. Research what this condition is called SEX CHROMOSOMES • Your sex chromosomes are obtained from your Mum and Dad • Females have XX for their sex chromosomes while Males have XY • Since your gametes are Haploid cells (only have 1 copy of the chromosome) Females will always have an X chromosome in their gametes whilst Male gametes will be made of X and Y chromosomes. • We technically never say that humans have 23 Homologous Pairs instead we have 22 Homologous pairs and a pair of sex chromosomes LEARNING INTENTION • Explain what mitosis Is • Be able to outline the steps involved in Mitosis FERTILISATION • You and I began as one tiny cell. This cell was created when a Sperm and Egg fused together (Fertilisation) and formed a Zygote (the tiny cell). • https://www.youtube.com/watch?v=pOLBP3eMjQE CELL DIVISION • How does that tiny little cell turn into trillions of cells within the human body allowing us to grow to adulthood? Mitosis • Our cells replicate themselves and divide – this process is called cell division • There are two types of cell division; • Division of your Somatic cells (body cells) = Mitosis • Cell division for the production of Gamete cells e.g. Sperm and Egg = Meiosis • The human body produces ~ 60 billion new cells per day MITOSIS • Mitosis is important as it allows you to grow but it also allows your body to repair itself as it needs to replace cells that die or are injured. • Without mitosis your bones and hair would not grow – mitosis is always occurring in your cells • In mitosis one cell splits (parent cell) into two new identical daughter cells – You basically clone yourself • There are a series of steps involved in Cell Division; (IPMAT) • Interphase • Prophase • Metaphase • Anaphase • Telophase STAGES OF MITOSIS • Moving from Interphase and completing telophase is called a Cell Cycle • There are 5 stages of Mitosis • Interphase = Cell copies it’s DNA (Longest phase of the cell cycle) • Prophase = The cell prepares for division; the chromosomes condense and the nucleus starts to breakdown • Metaphase = The chromosomes line up along the middle of the cell • Anaphase = The chromosomes separate and are dragged to opposite ends of the cell • Telophase = Two nuclei form, each with its own set of identical DNA INTERPHASE PROPHASE METAPHASE ANAPHASE TELOPHASE ACTIVITY Complete the Mitosis worksheet in your book MEIOSIS • Sex cells are called Gametes. In animals, female sex cells are called eggs and male sex cells are sperm • A sperm and egg need to come together and fuse together (fertilisation). The genetic information from the egg and sperm form a cell with 46 chromosomes • Meiosis is a special type of cell division that produces sex cells e.g. eggs and sperm. It involves two cycles of cell division resulting in four daughter cells which aren’t identical, compared to Mitosis which has two identical daughter cells. THE STAGES • Meiosis is very similar to Mitosis in that they have the same stages, however, Gamete cells go through the process twice QUESTIONS 1. Identify the parts of the body in which Mitosis occurs? 2. Identify the parts of the body in which meiosis occurs? 3. Outline the purpose of Mitosis and Meiosis? 4. What are the names given to the daughter cells produced during meiosis? 5. Complete the table After DNA is copied during interphase After Meiosis I After Meiosis II Number of Chromosomes Double or Single Stranded 46 Double-Stranded Mitosis Number of Daughter cells produced Number of chromosomes in parent cells of humans Number of chromosomes in daughter cells in humans Meiosis LEARNING INTENTIONS • Define the terms inheritance, dominant and recessive • Understand different modes of inheritance INHERITANCE • Friends and family might have come up and said “Hey, you have your dads nose, your mums eyes” etc. • This is also true for many other animals e.g. dogs having similar coat colours etc. • Each gene carries 2 alleles • This is due to inheritance - the passing of traits from parents to offspring. • You inherit your genes from your parents and different genes code for different characteristics e.g. hair colour, eye colour • These different characteristics can have different variations e.g. brown hair, blonde hair, black hair etc. These variations are called alleles MENDEL THE GODFATHER • Gregor Mendel studied patterns of inheritance • He bred pea plants to study the inheritance of traits. He looked at pea colour, pea shape and height • He discovered the Dominant & recessive mode of inheritance DOMINANT & RECESSIVE • Mendel discovered that there were alleles which were dominant and alleles that were recessive. • If a flower has a Red Colour allele and a White colour allele the red colour would be seen in the plant making the red colour “dominant” over the white “recessive” QUESTION • Is hair colour a gene or allele? • Is having blonde hair a gene or allele? • Is eye colour a gene or allele? • Is having blue eyes a gene or allele? GENOTYPES VS PHENOTYPE • A genotype describes the alleles which make up that persons gene • A phenotype is the observable characteristic we can see • An example, Susan has two alleles for a gene controlling eye colour. One codes for Brown eyes (B) and one codes for Blue eyes (b). Her genotype is therefore Bb. Her phenotype would be Brown eyes HOMOZYGOUS VS HETEROZYGOUS • Genetics has some very interesting terminology that is used to describe different alleles or the same alleles • There are 2 main categories; • Homozygous (don’t get confused with homologous) • Heterozygous If an individual has the same alleles e.g. AA, BB, CC, DD etc they are Homozygous Dominant (Capital refers to dominant allele) If an individual has different alleles e.g. Ab, Ba, Cd, they are considered Heterozygous QUESTION • If there was a gene which had aa,bb,cc,dd,ee for its alleles what would the name be? • A Labrador puppy has two copies of the allele for yellow fur (bb). Is the Labrador heterozygous or homozygous for fur colour? ACTIVITY • Complete worksheet “L06 - Dominant and recessive genes worksheet” LEARNING INTENTIONS • Be able to construct a punnet square to work out the probability of offspring having certain traits PUNNET SQUARES • Punnet squares are used to show all of the possible genotypes that the offspring could have and determine how likely each genotype is to occur HOW TO COMPLETE A PUNNET SQUARE • A green pea plant (GG) is being crossed with a green pea plant (Gg). Work out the possible offspring. • ****Teacher to complete) ACTIVITY • Complete worksheet “Punnett Square Worksheet” LEARNING INTENTIONS • Understand other types of inheritance • Be able to complete punnet squares for each mode of inheritance INCOMPLETE DOMINANCE • In incomplete dominance, neither allele is dominant or recessive. • Instead both alleles contribute to the phenotype. • Mixing of colours (think of making new colours e.g. red and yellow making orange) • An example is Andalusian Chicken INCOMPLETE DOMINANCE Let’s complete a Punnett Square to see how all of this works: Teacher Demonstration CO-DOMINANCE • When neither dominant or recessive, however, are a mixture of the two alleles CODOMINANCE Let’s complete a Punnett Square to see how all of this works: • Teacher Demonstration BLOOD TYPING • There are many different blood types. Blood types are considered CO-dominant as they “coexist’ together If someone is IA IA they will have blood type A If someone is IB IB they will have blood type B If someone is IA IB they will have blood type AB If someone is ii they will have blood type O BLOOD TYPE PUNNET SQUARE • Teacher Demonstration LEARNING INTENTION • Explain what pedigrees show • Be able to read a pedigree and determine alleles for different generations and individuals PEDIGREES • Pedigrees are diagrams used to show how individuals are related to one another • They allow you to track how alleles have been passed from parents to offspring across many generations SYMBOLS • Unaffected Female Unaffected Male • Affected Female Affected Male • Carrier Female Carrier Male • Mating • Offspring ACTIVITY • Complete worksheet “L11 - Pedigree Analysis” • L11 - Constructing a Pedigree - Gonzales family