Answer the question: › What do you think is the difference between heredity and genetics? The delivery of characteristics from parents to offspring is called heredity. The scientific study of heredity is called genetics. Gregor Mendel was born in 1822 in what is now the Czech Republic. He worked as a priest in a monastery and also taught high school and ran the monastery garden. He worked with ordinary pea plants because they were small, easy to grow, produce hundreds of offspring, and were convenient to study. They are now known as the model system. Gregor Mendel worked on fertilizing different plants and observing traits that the offspring held. A trait is a specific characteristic (seed color, plant height, etc.) of an individual. Mendel knew that one ordinary pea plant contained both female and male parts which means that it could self-pollinate. These types of plants are known as true breeding plants because they would always produce offspring identical to themselves. Mendel wanted to know how traits were passed on so he wanted to cross the traits of two true breeding plants through a process known as cross pollination. Mendel always started with true breeding flowers. He called them his parental generation or the “P” generation. The parental generation he used was always homozygous. This means they carried two of the same alleles (ex: TT or tt never Tt) The factors that are passed on from parent to offspring are called genes. The different forms of these factors are called alleles. Example: height = gene tall (T) = allele Capital Letters = dominant trait Lowercase Letters = recessive trait Alleles come in pairs. If there is even one dominant allele it will mask the other. Showing the dominant trait TT or Tt Showing the recessive trait tt Homozygous: TT or tt Heterozygous: Tt Genotype: The allele code (TT, Tt, or tt) Phenotype: Visually what you see occurring (tall or short) Using punnett squares we can figure out what possible types of offspring a future child will be. Example: parent plants are TT (homozygous tall) and tt (homozygous short) T = tall t = short tt TT T T t P t gametes t T T t Genotype: Phenotype: Homo. Or Hetero? Genotype: Phenotype: Homo. Or Hetero? Genotype: Phenotype: Homo. Or Hetero? Genotype: Phenotype: Homo. Or Hetero? The first generation of offspring were known as the F1 generation and they are no longer purebred plants. They are heterozygous since they carry two different alleles. Ratio TT:Tt:tt 0: 4: 0 Ratio Tall : short 4 : 0 Tt Tt Tt Tt T T t t Genotype: Phenotype: Homo. Or Hetero? Genotype: Phenotype: Homo. Or Hetero? Genotype: Phenotype: Homo. Or Hetero? Genotype: Phenotype: Homo. Or Hetero? By allowing members of the first generation to reproduce the second generation of offspring are formed and they are known as the F2 generation. Mendel studied 7 different characteristics to see which would be dominant or recessive. Ratio TT:Tt:tt 1: 2: 1 Ratio Tall : short 3 : 1 TT Tt Tt tt The Principle of Dominance The Law of Segregation The Law of Independent Assortment On your table are 7 different traits that Mendel studied. Whatever disappeared in the F1 generation but reappeared later he called a recessive trait. Mendel crosspollinated two true breeding homozygous plants together and he was surprised that after the first round of reproduction that certain traits were lost. To find out why this occurred he allowed his F1 generation to self-pollinate. In the F2 generation the lost traits reappeared. ¼ of the plants in the F2 generation showed the lost trait. Mendel figured out that this must have been a recessive trait. Genotype: Phenotype: Homo. Or Hetero? Genotype: Phenotype: Homo. Or Hetero? Genotype: Phenotype: Homo. Or Hetero? Genotype: Phenotype: Homo. Or Hetero? Phenotype Ratio Genotype Ratio Genotype: Phenotype: Homo. Or Hetero? Genotype: Phenotype: Homo. Or Hetero? Genotype: Phenotype: Homo. Or Hetero? Genotype: Phenotype: Homo. Or Hetero? Phenotype Ratio Genotype Ratio Dominant allele: Represented by capital letters. Will show through in the plant as long as one is present. › Example: T, A, B, … Recessive allele: Represented by lowercase letters. Will only show through in the plant if there are two present. › Example: t, a, b, … Genotype: The coded letters that represents an outcome. › Example: TT, Tt, tt Phenotype: The physical / visible trait that occurs in the plant. › Example: tall or short Homozygous: the genotype is both dominant or recessive. › Example: TT or tt Heterozygous: the genotype is a mixture of dominant and recessive. › Example: Tt or tT Probability is the likelihood that an event will occur. We represent these with fractions or percents. Complete examples 1 and 2 and leave your answers in fractions. Ex1: ½ Ex2: ½ x ½ x ½ = 1/8 The previous outcome does NOT change the outcome of the next flip. The way in which alleles segregate during gamete formation is independent just like in example 2. ½ ½x½ ¼ ½ ½ ½ ½x½ ¼ ½x½ ¼ ½x½ ¼ T T F1 possible offspring t Geno: Pheno: Geno: Pheno: Ratios: Tall : Short Probability t Geno: Pheno: Geno: Pheno: TT:Tt:tt TT Tt tt T T F1 possible offspring t Geno: Tt Pheno: Tall Geno: Tt Pheno: Tall Ratios: Probability t Geno: Tt Pheno: Tall Geno: Tt Pheno: tall Tall : Short 4:0 TT Tt tt TT:Tt:tt 0:4:0 0/4 4/4 0/4 T t F2 possible offspring T Geno: Pheno: Geno: Pheno: Ratios: Tall : Short Probability t Geno: Pheno: Geno: Pheno: TT:Tt:tt TT Tt tt T t F2 possible offspring Probability T t Geno: TT Geno: Tt Pheno: Tall Pheno: Tall Geno: Tt Geno: tt Pheno: Tall Pheno: short Ratios: Tall : Short 3:1 TT Tt tt TT:Tt:tt 1:2:1 ¼ ½ ¼ BP BP bp bp BP BP bp bp BbPp BbPp BbPp BbPp BP Bp bP bp BP Bp bP bp BP Geno:BBPP Geno: Pheno: black Pheno: and petals Geno: Pheno: Geno: Pheno: Bp Geno: Pheno: Geno: Pheno: Geno: Pheno: Geno: Pheno: bP Geno: Pheno: Geno: Pheno: Geno: Pheno: Geno: Pheno: bp Geno: Pheno: Geno: Pheno: Geno: Pheno: Geno: Pheno: BP Bp bP bp BP Geno:BBPP Geno: BBPp Pheno: black Pheno: black and petals and petals Geno:BbPP Pheno: black and petals Geno: BbPp Pheno: black and petals Bp Geno: BBPp Geno: BBpp Pheno: black Pheno: black and petals and no petals Geno: BbPp Pheno: black and petals Geno: Bbpp Pheno: black and no petals bP Geno: BbPP Geno: BbPp Pheno: black Pheno: black and petals and petals Geno: bbPP Pheno: white and petals Geno: bbPp Pheno: white and petals bp Geno: BbPp Geno: Bbpp Pheno: black Pheno: black and petals and no petals Geno: bbPp Pheno: white and petals Geno: bbpp Pheno: white and no petals Dom-Dom : Dom-Rec : Rec-Dom : Rec-Rec Black-Petal : Black-no petal : white-petal : white-no petal 9:3:3:1 While Mendel only had the resources of his monastery garden to use for studying genetics, other scientists made use of other resources to check his work. While his rules of dominance and recessive for a single gene work there are always exceptions to the rule. And as technology increases so does our understanding of how wide is the range of exceptions. What do you think the word incomplete means? Answer: not complete; lacking some part What Mendel dealt with was known as complete dominance. In his situation the presence of one dominant allele always showed the dominant trait. An exception to this is known as incomplete dominance where the heterozygous form will exhibit an incomplete / blended / intermediate phenotype because some alleles are neither dominant or recessive. Ex: Snapdragons or Four O’Clock Plants What do you notice about t the F1 generation? R R W Geno: Pheno: Geno: Pheno: W Geno: Pheno: Geno: Pheno: Probability of RR RW WW R R W Geno: RW Pheno: pink Geno: RW Pheno: pink W Geno: RW Pheno: pink Geno: RW Pheno: pink Probability of RR 0/4 RW 4/4 WW 0/4 R W R Geno: Pheno: Geno: Pheno: W Geno: Pheno: Geno: Pheno: Probability of RR RW WW R W R Geno: RR Pheno: red Geno: RW Pheno: pink W Geno: RW Pheno: pink Geno: WW Pheno: white Probability of RR 1/4 RW 1/2 WW 1/4 Four O’clock plant Explain to your neighbor what it means for a given trait to be incompletely dominant. NOW on a scrap piece of paper complete the following cross: BB = Black WW = White BW = Grey Find the possible offspring when a black parent crosses with a grey parent. What do you think is meant by the word co in co-dominance? Answer: Shared When multiple alleles are equally dominant then both of those traits will show through in the heterozygous. There is no blending in this exception. It looks as if the figure is patterned because it will display both traits. Erminette Chicken Roan Cow Erminette Chicken Certain varieties of chickens BB = black WW=white However when you get a BW you get a black/white checkered that is otherwise known as an erminette chicken. B B W Geno: Pheno: Geno: Pheno: W Geno: Pheno: Geno: Pheno: Parents are BB and WW Probability of BB BW WW W W B B Geno: BW Pheno: erminette Geno: BW Pheno: erminette Geno: BW Pheno: erminette Geno: BW Pheno: erminette Parents are BB and WW Probability of BB 0/4 BW 4/4 WW 0/4 B W B Geno: Pheno: Geno: Pheno: W Geno: Pheno: Geno: Pheno: Parents are BW and BW Probability of BB BW WW B W B W Geno: BB Pheno: black Geno: BW Pheno: erminette Geno: BW Pheno: erminette Geno: WW Pheno: white Parents are BW and BW Probability of BB 1/4 BW 1/2 WW 1/4 Another example of co-dominance is Sickle Cell Anemia. This is an issue where the red blood cells cannot carry oxygen. Trait (or carrier) is the heterozygous form. Have both normal and sickled blood cells The normal blood cells help the person to live a near normal life. Disease is homozygous for the sickle cell and the majority of their blood cells are sickled. They show the symptons of sickle cell. Family 1 A = Normal RBC ( red blood cell) S = Sickle RBC Look at the hands of the person to show their genotype. Family 1 Looking at family 1: Parents AS and AA What is the probability of children with: Sickle Cell Trait: Sickle Cell Disease: Usual/normal: Family 2 A = Normal RBC ( red blood cell) S = Sickle RBC Look at the hands of the person to show their genotype. Family 2 Looking at family 1: Parents AS and AS What is the probability of children with: Sickle Cell Trait: Sickle Cell Disease: Usual/normal: Why do more members of the African American community have sickle cell anemia than some other cultures? Green is areas of high malaria Orange stripe is areas of sickle cell allele carriers. There is a connection between sickle-cell anemia and malaria. Malaria is caused by a parasite that can live inside mosquitoes found in tropical regions of the world and is often deadly. The parasite enters the body and travels directly to infect the RBC. Those who are heterozygous for sicklecell will not contract malaria. WHY you might ask? The sickled cells puncture/kill the malaria. In fact in countries like Africa where malaria is an issue 1/10 will be heterozygous for the trait as an evolutionary measure against malaria. Reminder: Gene = height allele = T tall So the gene is on the chromosome but the expression of the gene is the specific allele. It is possible for ONE gene to have 2+ alleles (or versions of a trait). Example: pigeons have 3 alleles for feather color which means they can be born either red, chocolate, or blue. Example: Rabbits have 4 color alleles and therefore can be born with multiple varieties of colors. Blood Type There are three different alleles resulting in the four blood types Four Blood types: A, B, AB, O The letters A and B represent antigens on the allele. If they are present they will be present in the name of the blood type. We write the alleles as IA , IB, and I otherwise known as A, B, and O The I stands for immunoglobulin protein. Phenotype Type A Type B Type AB Type O Genotype Phenotype Genotype Type A Type B Type AB Type O IAIA or IAI = AA or AO Phenotype Genotype Type A Type B Type AB Type O IAIA or IBIB or IAI IBI = = AA or AO BB or BO Phenotype Genotype Type A Type B Type AB Type O IAIA or IAI IBIB or IBI IAIB = AB = = AA or AO BB or BO Phenotype Genotype Type A Type B Type AB Type O IAIA or IBIB or IAIB or II IAI IBI IAIB = AA or AO = BB or BO = AB or AB = OO Remember that each of the alleles (A and B) are codominant so as long as they are present they are represented. Blood transfusions You can only donate to those that also have your dominant allele. If you only have recessive you can donate to anyone. If you do not receive the correct transfusion your body will reject it and start to clot. Who can donate to who? Donor Viable Recipient O O A A B B AB AB What blood type is considered to be the universal donor? Type O What blood type of considered to be the universal acceptor? Type AB Just a little side note (will not be tested on this) But blood types are positive and negative so where does that come from? Blood types are either + or – based on the presence of the Rh factor on the surface of the RBC. If it is present they will be + but if it is absent they will be -. On a piece of scrap paper answer the following: What are all the possible genotypes of offspring if a Type A parent breeds with a Type B parent? Answer: what are all the possible type A’s (AA or AO) and type B’s (BB or BO) cross all the possible combinations. B B A AB AB A AB AB B O A AB AO A AB AO B O A AB AO O BO OO B B A AB AB O BO BO Answer: Without information about the parents parents we must try all options. AB, AO, BO, and OO are the possible genotypes On the same scrap of paper answer the following question: Can a child with blood type B be the child of parents with blood types A and type O? Explain your answer using punnett squares. O O A AO AO A AO AO O O A AO AO O OO OO Poly means many while genic can be taken as gene so polygenic means many genes. Two or more genes have to be affected in order for this to occur so this is NOT the same thing as multiple allele (one gene) or co-dominance (speckled) which both only deal with ONE gene. Examples: Eye Color, hair color, skin color, and height. Skin Color For skin color the more capital letters one has the more melanin they have and therefore the darker their skin color is. When it comes to trait expression both nature and nurture influence phenotypes. Nature means your genes / what “mother nature” gave you. Nurture means the environment. For instance, while nature / your genes may have given you pale skin color. The environment / how you nurture your skin with regards to sun exposure can alter its phenotype. Environmental influences can include things like light, nutrition, temperature, etc. For example, Siamese cats and Himalayan rabbits have dark-colored extremities. The paws, tails, ears, and nose are colder in temperature compared to the core of the body and thus are darker. If the hair in a dark region is shaved and the extremities are kept at warmer temperatures, the new hair that grows in will be white. This is because there is an enzyme that produces the dark pigment. It is only active at cooler temperatures. The visual image of the complete diploid set of chromosomes grouped together in pairs, and arranged in order of decreasing size, is otherwise known as a karyotype. Notation is given as follows: # of chromosomes, sex chromosomes, issues The normal female is 46,XX The normal male is 46, XY What is the notation for the karyotype to the right? 47, XX, +18 they have 47 chromosomes, two x chromosomes, and the issue is they have an extra 18th chromosome. Scientists get the pictures of the chromosomes during mitosis when the chromosomes are clearly condensed and easy to view. They will then cut them out and put them in order. Complete the worksheet. Due Wednesday upon return from winter break. Quiz answer key is by my computer if you need to check out any answers. Females are XX and males are XY. What is the ratio of the sex of the possible offspring that a male and female could have. Show in a punnett square. X X X Y You have a 50/50 chance of having a boy or a girl. Some families are very prone to having certain sexes of children but this is a genetic anomaly. X Y X XX XY X XX XY While there are 44 chromosomes that do not code for sex (also known as autosomal chromosomes) there are two that do code for the sex of the offspring and we call these sex chromosomes denoted by the letters X and/or Y. More than 1200 genes are found on the long X chromosome while only about 140 genes are located on the Y chromosome. Most of these genes on the Y chromosome have to deal with male sex determination and sperm development. Example on the X chromosome are Duchenne muscular dystrophy, hemophilia A, and color blindness. These are called sex-linked traits Simple dominance Co-dominance and multiple alleles Sex-linked traits › Almost always are issues with the X chromosome but there are some sex-linked traits connected to the Y for males. Red-green colorblindess is a recessive X-linked trait. To the right is the differences in what you would see if you were red-green colorblind. Normal female with no colorblindness › XNXN Carrier female for colorblindness (sees normally) › XNXn Colorblind female › XnXn Normal male › XNY Colorblind male › XnY Colorblindness: What are the possible offspring that a normal male and a carrier female could have? Answer: XN XN Y XNXN XNY Normal male Normal female Xn XNXn Carrier female XnY Colorblind male Colorblindness: What are the possible offspring that a colorblind male and a carrier female could have? Answer: XN Xn Y XNXn XNY Normal male Carrier female Xn XnXn Colorblind female XnY Colorblind male Colorblindness: Who does the son get the colorblind allele from his mother or his father? Why? Answer: The father passes on a Y to a son whereas the son will get the X from the mother so she is passing on the colorblind allele. Also called the “bleeders disease” Caused by a recessive x-linked allele. The blood of people with this disorder does not clot. This condition was passed on throughout the royal families of Europe due to the common practice of marrying other royals. It began with the son of Queen Victoria of England and affected Spanish and Russian royalty as well. Basically, think of it as an incest situation. The muscles of people with this disorder weaken and this leads to loss of coordination. This is a recessive disorder. Which gender is most affected by xlinked disorders? Why? Males because they only have one x chromosome Males have one x chromosome while females have 2 and sometimes it is just one too many. The body will adjust to this extra chromosome by randomly switching one X chromosome off when it is not in need. These switched off X chromosomes will form a dense region in the nucleus known as a Barr Body. These are generally only found in females since males need the one X chromosome they have. Calico cats are a good example of this. The gene that controls the color of the fur is located on the X chromosome. One X will code for orange color while the other codes for black color. Different cells may make different colors inactive and therefore the females will have spots of different colors showing in different parts of their bodies. Males will have spots of 1 color since they don’t have two X’s and they don’t switch it off. You can use a chart that shows the relationships in a family to track the pattern of inheritance of a certain trait. This chart is called a pedigree. A pedigree allows for you to track multiple generations of family to see if a trait is either Sex-linked dominant or recessive OR Autosomal dominant or recessive What does a circle mean? › Girl What does a square mean? › Married › Boy What does a colored in square or circle mean? › They show the trait What does a horizontal line connecting two people mean? What does an unshaded square or circle mean? › Doesn’t show trait A vertical line off of a married couple has a set of circles and squares attached to it. These are what relationship to the married couple? › Children. To check to see if a pedigree is for a dominant trait use the following information: Trait shows if even one dominant allele is present We will assign all members of a family genotypes. Shows AA or Aa Doesn’t show aa Anyone shaded must have at least one dominant allele. AA or Aa Anyone not shaded must have no dominant alleles aa Lets fill in the aa first aa aa aa aa aa aa aa aa aa aa A__ aa aa aa aa A__ aa aa aa aa aa A__ aa A__ aa aa aa aa A__ aa aa aa aa aa A__ aa Aa aa aa aa aa A__ aa aa aa aa aa A__ aa Anyone shaded must have only recessive alleles. aa Anyone not shaded must have at least one dominant allele AA or Aa Lets fill in the aa first aa aa aa aa A_ A_ A_ A__ aa A_ A_ A_ A_ A_ aa A_ aa Aa A_ Aa A__ aa A_ Aa A_ A_ A_ aa A_ aa Aa A_ Aa Aa aa A_ Aa Aa aa A_ A_ A_ aa Aa A_ Aa Aa aa A_ Aa Aa aa A_ A_ A_ Aa aa Aa aa aa aa Aa Aa aa aa Aa aa Aa aa aa aa aa aa Aa Some pedigrees represent carriers (heterozygous form) with ½ the circle or square colored in or a dot See in cystic fibrosis example. Most genetic disorders are caused by recessive alleles. Common amongst white Americans and causes mucus build up in the lungs and digestive tract. Build-up of lipids in the brain No treatment you can just help to make the patient comfortable. Deafness Decreased eye contact, blindness Decreased muscle tone (loss of muscle strength) Delayed mental and social skills Dementia Increased startle reaction Irritability Listlessness Loss of motor skills Paralysis or loss of muscle function Seizures Slow growth Phenylalanine is one of the 20 amino acids. People with PKU cannot break down this amino acid so it accumulates in the central nervous system (CNS). Babies are tested at birth because milk contains lots of phenylalanine. If a baby drinks milk and has PKU disorder, mental retardation occurs. What are the safest foods for an individual with PKU to consume? Low protein breads, fruits, juices, vegetables A recessive disorder in which a person has a lack of pigment (melanin) produced in the eyes, skin and hair. Albus means white in latin. One type of dwarfism. Sometimes considered a dominant disorder but what does this pedigree show? The pedigree shows it is recessive because there is no way for a couple who is not showing to pass on dominant alleles to their offspring. Having extra toes or finger is actually a dominant trait. Therefore, dominant does not mean more common in a population. Sometimes they are functional sometimes they are not. Depends on their location. If P = poly and p = not poly then what is the genotype of those who do not have polydactyl digits? pp Causes the breakdown of areas of the brain and no treatment exists but genetic screening is recommended for families who have the dominant gene. It is passed on to offspring because affected individuals do not show symptoms until about age 30 to 50. Widows peak Free hanging ear lobes Hitchhikers thumb A man by the name of T.H. Morgan worked with fruit flies called Drosophila melangaster. The first word is the genus and is always capital and the second word is the species and is always lowercase. Also, they must be underlined or typed in italics. The normal eye color for Drosophila is red. Morgan noticed a mutation occurred to produce a fly with white eyes. The trait for eye color in fruit flies is located on the X chromosome and is therefore called a sex-linked trait or an Xlinked trait. When it comes to doing sex-linked problems it is important to note the gender of the individuals. For example, in flies red eyes are dominant (R) and white are recessive (r). A homozygous red-eyed female would be written as XRXR. White-eyed female XrXr. Red-eyed male XRY. White-eyed male XrY. The reason why the trait is only written on the X chromosome is because the Y chromosome carries few traits. Sample: Cross a red-eyed heterozygous female with a white-eyed male. Write the genotype and phenotype ratios. XR Xr XR Xr Y XR Y Xr XrXr XrY Phenotypic Ratio R. fem. : W. fem : R male : W. male 1 : 1 : 1 : 1 Genotypic Ratio XRXR : XRXr : XrXr : XRY : XrY 0 : 1 : 1 : 1 : 1 Is it possible for a male to be a carrier of a sex-linked trait? No they only have one x chromosome so nothing to hide it. Can a dad pass on an x-linked trait to his biological son? No because the dad passes on the Y while the mom passes on the X.