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Name __________________________________________________________ Date _____________________ Block ______ Packet 6: Genetics Bio.3.2 Understand how the environment, and/or the interaction of alleles, influences the expression of genetic traits. Bio.3.2.2 Predict offspring ratios based on a variety of inheritance patterns (including dominance, co-dominance, incomplete dominance, multiple alleles, and sex-linked traits). Vocabulary o o o o o o o o o o o o o o Dominant Recessive Genotype Phenotype Punnett square P1, F1 & F2 Generations Probability Monohybrid cross Dihybrid cross Test cross Heterozygous Homozygous Allele Gamete o o o o o o o o Gene Genetics Heredity Hybrid Purebred Punnett square Pedigrees Autosomal disorders Sickle cell Cystic fibrosis Huntington’s disease o Complete dominance o Incomplete dominance o o o o o o o o o o Codominance Multiple alleles Polygenic traits Sex-linked traits Sex-linked disorders Colorblindness Hemophilia Muscular dystrophy Sickle cell anemia Huntington’s disease Cystic fibrosis Tay-Sachs disease PKU 1 Name __________________________________________________________ Date _____________________ Block ______ MENDELIAN GENETICS Notes: Introduction to Genetics Word Definition Drawing A segment of DNA that codes for a protein Alternate forms of a gene Two alleles are the same. Two alleles are different. Trait that is automatically seen even when paired with a recessive allele. Trait that is only seen when two recessive alleles are present. Genetic make-up of an individual. Physical characteristic. How you see the trait. A box that is used to predict the probability of offspring when crossing two parents. __________________ ___________________ (1822-1884) today he is considered to be the father of modern genetics. _____________________ is the branch of biology that studies heredity or the passing of traits from parent to offspring. 2 Name __________________________________________________________ Date _____________________ Block ______ Mendel worked with ________________ _________________. He determined 3 things from his studies: o For each trait an individual has _________ copies of a gene (one from each parent) o There are alternate forms of genes called __________________________. o There are dominant and ________________________ alleles. Mendel’s findings led to two laws of heredity: o _____________________________________ - 2 alleles for a trait separate during meiosis when gametes are formed b/c homologous chromosomes and sister chromatids separate. o _________________________________________________ - alleles for different traits separate independently from one another during meiosis. In other words inheritance of one trait does not influence inheritance of another. For example if you have blond hair you will not necessarily get blue eyes. These traits are inherited separately. Nature vs. Nurture: Genes determine the physical trait, but environment can also play a role in how the trait is expressed. Example 1: Height and weight. Genes determine this trait, but environment can play a big role. If a person has genes for being very tall, but does not have the proper nutrition while growing up, then they may not be as tall as their genes would allow. Example 2: Fur color in some animals. Genes determine fur color, but some animals have fur that changes depending on the season. The arctic fox for instance has a white coat in the winter but a brown coat in the summer. 3 Name __________________________________________________________ Date _____________________ Block ______ Now you practice identifying the genotypes and phenotypes using the following traits and symbols. TRAIT DOMINANT ALLELE RECESSIVE ALLELE Seed shape R = round r = wrinkled Seed color Y = yellow y = green Seed coat color G = gray g = white Flower position A = axial a = terminal Plant height T = tall t = short Complete the following table using the symbols and traits found above: Trait Genotype (symbol) Phenotype seed shape RR seed shape Rr seed shape rr plant height tall plant height short flower position terminal flower position axial seed coat color Gg Write the correct symbols for the following genotypes. Circle those that are not possible. pure tall stems _______ homozygous yellow seeds _______ pure short stems _______ pure green seeds _______ homozygous terminal flowers _______ hybrid round seeds _______ pure round seeds _______ homozygous axial flowers _______ homozygous wrinkled seeds__ hybrid tall stems _______ Heterozygous wrinkled seeds _______ hybrid axial flowers _______ heterozygous short stems_______ heterozygous yellow seeds _______ heterozygous seed coat color _______ 1. Why are some of these not possible? ____________________________________________ 2. Can I always identify the genotype if I know the phenotype? ________________ Explain your answer. _____________________________________________________________________ 4 Name __________________________________________________________ Date _____________________ Block ______ HOW TO DETERMINE IF A TRAIT CAN BE PASSED ON TO THE OFFSPRING _____________________ is the likelihood that an event will occur. o So if we know the genetic makeup of the mom and dad, we should be able to figure out if it is probable and/or possible for them to pass down certain traits. We will use a box called a _____________________ _____________________ to determine the probability that specific traits will be passed down from parent to offspring. _____________________ cross- a cross that involves one pair of contrasting traits. E (_________ Female genotype) e (__________ - Male genotype) E e PRACTICE PROBLEM: In pea plants, tall is dominant over short. (T = tall, t = short) 1. What letters will represent a heterozygous tall plant? _______ 2. What letters will represent a homozygous short plant? _______ 3. What type of offspring would result if we crossed a heterozygous tall plant with a short plant? Complete the Punnett square below to find out. Parents (P) = Tt X tt a. What are the possible genotypes of the offspring (include fractions)? c. What are the possible phenotypes of the offspring (include fractions)? b. What is the genotypic ratio? d. What is the phenotypic ratio? 5 Name __________________________________________________________ Date _____________________ Block ______ Punnett Square Practice Complete the punnett squares and questions for each of the following genetic crosses. YOU MUST SHOW ALL WORK TO GET CREDIT!!! 1. Red flowers are dominant to white flowers. (R = red, r = white) a. What letters will represent a homozygous red flowered plant? ___________ b. What letters will represent a homozygous white flowered plant? ___________ c. Cross a homozygous red plant with a white plant: d. List the possible genotypes? ___/4 RR, ___/4 Rr, ___/4 rr e. What is the genotypic ratio? ____ : ____: ____ f. What are the resulting phenotypes? ___/4 red, ___/4 white g. 2. What is the phenotypic ratio? ____: ____ In pea plants, round seeds are dominant to wrinkled seeds. (R=round, r=wrinkled) a. Tell the genotype of a pea plant that is heterozygous for round seeds? _____________ b. Cross a heterozygous plant with another heterozygous plant. c. What are the genotypes of both parents? Parent (P): ____________ X ___________ d. List the possible genotypes? ___/4 RR, ___/4 Rr, ___/4 rr e. What is the genotypic ratio? ____ : ____: ____ f. What are the resulting phenotypes? ___/4 round, ___/4 wrinkled g. 3. What is the phenotypic ratio? ____: ____ In pea plants, green pea pods are dominant to yellow pea pods. (G=green, g=yellow) a. Cross a heterozygous plant with a yellow plant. b. What are the genotypes of both parents? Parent (P): ___________ X ___________ c. What is the genotypic ratio____________________ d. What is the phenotypic ratio?________________________ 6 Name __________________________________________________________ Date _____________________ Block ______ Using Punnett Squares to Predict the Outcomes of Crosses TRAIT Pod shape Pod color Flower position Plant height DOMINANT N = smoothALLELE G = green A = axial T = tall RECESSIVE n = wrinkled ALLELE g = yellow a = terminal t = short Practice problems. In order to get credit, you must SHOW ALL STEPS shown above!!! 4. Cross a plant that is heterozygous for axial flowers with a plant that has terminal flowers. Genotypic Ratio: ______________ Phenotypic Ratio:_____________ 5. Cross two plants that are both heterozygous for green pods. Genotypic Ratio: ______________ Phenotypic Ratio:_____________ 6. When a tall plant is crossed with a short plant, some of the offspring are short. What are the genotypes of the parents and the offspring? What would be the expected phenotypic ratio of the offspring? (Hint #1: You may need to work backwards with this problem. #2: You should have two punnett squares drawn to prove your point). Genotypes of Parents: ______________ Possible genotypes of offspring: ______ Phenotypic Ratio: _______________ 7. Three-fourths (3/4) of the plants produced by a cross between two unknown pea plants have axial flowers and ¼ have terminal flowers. What are the genotypes of the parent plants? SHOW YOUR WORK! 7 Name __________________________________________________________ Date _____________________ Block ______ NOTES: TEST CROSSES A TEST CROSS is used to determine the unknown genotype of a specific organism. o o In most cases, if you have an organism that is showing the ______________________ trait, you can not tell if they are homozygous or heterozygous by looking at them. It is possible to determine their genotype by crossing (breeding) the unknown with an individual that is homozygous _______________________. By looking at their offspring you can usually determine the genotype of the unknown parent. Example: In tulips, red is dominant over white. When you see a red flower you can’t be sure if the flower is homozygous red (RR) or heterozygous red (Rr). To determine this you can cross it with a plant that produces white (rr) flowers (homozygous recessive) & observe the color of the offspring. Possibility #1: Red (R?) x white (rr) R r Possibility #2: Red (R?) x white (rr) R r r r r r If some are white and some red then the genotype must be Rr If all of the tulips are red then the parent must be RR. Sample test cross: In dogs, there is a hereditary deafness caused by a recessive gene, “d.” A kennel owner has a male dog that she wants to use for breeding purposes if possible. The dog can hear, so the owner knows his genotype is either DD or Dd. If the dog’s genotype is Dd, the owner does not wish to spend the money to use him for breeding. The only way to be certain is to breed the dog with a deaf female (dd) and observe the offspring that they produce. 1. If the male dog is DD what is the probability that he would pass on the allele for deafness? ________ 2. If the male dog is Dd what is the probability that he would pass on the allele for deafness? ________ 3. Since the female is dd what is the probability that she would pass on the allele for deafness? ________ Since we do not know what the genotype of the male is, we will complete both punnett squares below to show the possible outcome of the test cross: Assume the male is DD Assume the male is Dd 4. If he is DD, what % of the puppies would be expected to have normal hearing? _____ deaf? ____ 5. If he is Dd, what % of the puppies would be expected to have normal hearing? _____ deaf? ____ If any of the puppies are deaf, the male’s genotype MUST BE _______; but assuming a litter of at least about 4 to 5 puppies or more, if they can all hear, his genotype is MOST LIKELY __________. 8 Notes: Introduction to Dihybrid Punnett Squares Sometimes instead of just comparing a single trait (like we have been with the four box punnett square) – we will compare two different traits at the same time. This is called a _______________ cross. B = Black Nose L = Long ears b = pink Nose l = short ears Use the Punnett square seen below to answer questions. BR Br bR br BR BBRR BBRr BbRR BbRr Br BBRr BBrr BbRr Bbrr bR BbRR BbRr X bbRr br BbRr Bbrr bbRr Z Hair Color B = Black b = white Hair Texture R = rough r = smooth What letters would go in Box X? ___________________ What letters would go in Box Y? ___________________ What are the genotypes of the parent’s of this cross? ___________ _____________ What percent of offspring are expected to have a white coat of fur? ______________ Complex Genetics Term Definition Complete Dominance One allele is dominant over the other. Incomplete Dominance The dominant allele will not fully cover up a recessive allele and the trait will be a result of the two blending or mixing together. Codominance Two different alleles are expressed at the SAME time. RR Rr rr 9 Practice: Incomplete Dominance In carnations, incomplete dominance can be seen in flower color: o red (RR) o pink (Rr) o white (rr) Cross two pink carnations. Write the genotypes of the parents ______ X ______ A. Genotypic ratio: ______RR:_____Rr:______rr B. Phenotypic ratio: ______red:_____pink:______white C. What percent of the offspring are pink? _______ 2. In humans, hair texture is due to an incompletely dominant trait. Straight hair (H) is incompletely dominant to curly hair (h). When crossed, they produce a heterozygous individual with wavy hair (Hh). Using a Punnett square, cross a curly-haired person with a wavy-haired person. What are the genotypes of the parents?___________ X __________ A. Genotypic ratio: ______HH:_____Hh:______hh B. Phenotypic ratio: _____straight:____wavy:______curly C. What percent of the offspring have straight hair? _____ An example in humans of incomplete dominance: Normal hemoglobin (no sickle cell anemia) are homozygous (HAHA) o Their red blood cells are disk shaped, soft/flexible and live for about 120 days. Individuals that carry the sickle cell allele are heterozygous (HAHS) o People with this genotype have a milder form of the disease. Individuals with sickle cell disease are homozygous (HSHS) o Red blood cells can becomes sickle shaped, rigid and live about 20 days. They also tend to get stuck in narrow blood vessels, which may cause complications. Complete a punnett square to determine the chances of two sickle cell carriers having a homozygous normal child? Genotype of parents: ________ x ___________ 10 Practice: Codominance Codominant alleles are written as capital letters with superscripts (HR). Since the trait is inherited from both parents, it is important to still use two ‘sets of letters’ as seen below: The allele for red hair (HR) is codominant with the allele for white hair (HW) in cattle. Cattle that have the genotypes HRHW are called roan because their hair is a mixture of red and white hairs. HRHR = Red HRHW = roan HWHW = White Cross a red cow and a white bull. What are the genotypes of the parents?________ X _______ A. Genotypic ratio: ______ HRHR:_____ HRHW:______ HWHW B. Phenotypic ratio: ______red:_____roan:______white C. What percent of the offspring are roan? _______ In chickens, black feather color (FB) is codominant to white feather color (FW). The heterozygous individual is a combination of black and white feathers that results in a checkered pattern (FBFW). Cross a checkered chicken with a black chicken. What are the genotypes of the parents?___ X ____ A. Genotypic ratio: ____ FBFB:_____ FBFW:____ FWFW B. Phenotypic ratio: __black:___checkered:___white C. What percent of the offspring are black? ______ 11 Notes: Multiple Alleles Multiple Alleles - A gene that has more than ________ alleles (or forms of a gene). In other words, not just one dominant and one recessive allele (i.e. R and r). The following are symbols that are used for blood types: Blood Type Genotype(s) Type of Antigen (Phenotype) Type __ ii 1. Type __ IA I A or IA i Type __ IB IB or IB i Type __ I A IB Sample Blood Cell A man with type O blood marries a woman with type AB blood, what are the possible blood types of their children? What is the probability of having a child with each of the following blood types. - Type A? ____________ - Type B? _________ - Type AB? ___________ 2. - Type O? ________ Is it possible for a man with type A blood and a woman with type B blood to have one child with type O blood and another child with type AB Blood? Why or why not? Show your work!!! Red blood cells may also have a second antigen called ____ ________________. This trait is complete dominance. Phenotype _____________________ __________________ + + + Genotypes: (Rh Rh ) or (Rh Rh ) (Rh- Rh-) Appearance of Red Blood Cells 12 What type of blood can you get? Blood cells have different proteins on their surface and this determines the blood type. These proteins are called _______________. If you have A blood you produce the A antigen, people with O blood produce NO antigen. The body’s immune system produces ___________________ (another type of protein) that recognize antigens on foreign cells and attacks them. Antibodies and antigens match up like a lock and key. Your body produces antibodies against antigens that YOU DO NOT HAVE. If your body produced antibodies for antigens you have then your body would attack itself. Blood Type or Phenotype Which Antigen is present? Which Antibody is produced? Blood you can’t get Blood you can get A B AB O Rh+ Rh Type O- is known as the ______________ ____________. Since there are no antigens on the blood cells it can be given to any of the blood types. Even though other blood types make antibodies, the antibodies have nothing to attach to on the O blood cells. O- can only get from O- since they make antibodies to all other blood types. Type AB+ is called the ________________ ________________. A person with type AB blood could receive a transfusion from any blood type since they don’t make antibodies to any of them. Rh Factor and pregnancy – If a mom is Rh- then she makes antibodies that attack blood cells with the Rh+ antigen. If her baby is Rh+, then the baby may be harmed. Luckily there is an injection the mom can get to prevent her body from harming the baby. 13 Notes: Polygenic Inheritance Polygenic Traits are controlled by the interaction of more than one gene. In humans, there are several obvious examples of polygenic traits such as hair color, eye color, height and skin tone. Traits that are polygenic tend to show great degrees of variation. o Skin color is caused by at least 3 different genes that code for the production of pigment. The more dominant genes that you have, the more pigment is produced (and therefore the darker your skin). o If two parents have a moderate skin tone (AaBbCc), the graph below shows the probability of having a child with each skin tone. aabbcc aabbCC Lightest skin tone AaBbCc AABbCc AABBCC Darkest skin tone Notes: Sex-Linked Traits Genes which are located on the sex chromosomes are said to be sex-______________. Not all genes on the sex chromosomes control gender (i.e. color-blindness and hemophilia) Sex-linked traits occur more frequently in _________because they have only ______ X chromosome. __________________ (Xn) is a very common sex-linked trait and is recessive to normal vision (XN). More males have this disorder than females XNXN = Normal Female XNXn = Normal Female Carrier XnXn = Colorblind Female 1. XNY = Normal Male XnY = Colorblind Male Cross a carrier female for colorblindness with a male that is normal for colorblindness. A. What are the genotypes of the parents? __________ X _____________ B. What is the probability that one of their children will be colorblind? _________ C. What is the probability of a son being colorblind? ____________ 14 2. Cross a normal female and a colorblind male. What is the probability that their daughter will be a carrier? In humans, hemophilia is a sex-linked trait located on the X chromosome. Normal blood is dominant (XH) to hemophilia (Xh). A heterozygous female is referred to as a carrier. 1. Using a Punnett square, cross a female with hemophilia with a normal male. ___________________ X __________________ A. What percentage of this couple’s daughters will have hemophilia? _________ B. What percentage of this couple’s sons will have hemophilia? __________ 2. Cross a carrier female with a male with hemophilia. ___________________ X __________________ A. What percentage of this couple’s sons will have hemophilia? _______ B. What percentage of this couple’s daughters will have hemophilia? _______ Notes: PEDIGREES & GENETIC DISORDERS Biologists use charts called ___________________________ to study the pattern of phenotypic inheritance in individuals and their family. When making a pedigree the following rules must be followed: I II ______________ = male ______________ = female III IV A ______________________ in square or circle = individual displays the trait A ______________________ of a shaded in square or circle = individual is a carrier (may not display the trait). This is not always known or shown. 15 GENETIC DISORDERS are diseases or debilitating conditions that have a genetic basis. When looking at pedigrees you will need to determine if the disorder is: Autosomal or sex-linked Dominant or recessive Tips to determining this: If a disease is autosomal it will appear about ______________________ in males and females. If a disease is sex-linked it will appear in more ____________________ than females. If a disease is recessive than it is possible for _______________________ parents to be normal but have a child that has the disease. If a disease is dominant than at least ______________________ of the parents will have the disease. Analyze the pedigrees below and determine if the pattern of inheritance for the disease/disorder). Circle one in each pair: Autosomal or Sex-linked Dominant or Recessive 16 Circle one in each pair: Autosomal or Sex-linked Dominant or Recessive Circle one in each pair: Autosomal or Sex-linked Dominant or Recessive 17 Autosomal Genetic Disorders: Disorder Huntington’s Disease Cystic Fibrosis Sickle Cell Anemia Tay-Sachs Disease Symptoms Gradual deterioration of brain tissue in middle age; shortened life expectancy Mucus clogs lungs, liver and pancreas; victims don’t survive to adulthood Impaired blood circulation; Organ damage Normal at birth, but deterioration of central nervous system begins in infancy; death occurs in early childhood Inability of the body to break down the amino acid phenylalanine. Failure to limit the amino acid in the diet causes it to accumulate, Phenylketonuria which leads to problems w/brain (PKU) development, seizures and possibly mental retardation. Pattern of Inheritance Frequency among Human births Autosomal Dominant 1/10,000 Autosomal Recessive 1/2,080 (whites) Autosomal Recessive 1/500 (African American) Autosomal Recessive 1/1,600 (Jews-European Descent) Autosomal Recessive 1/15,000 Caucasion and Asians (less in African Americans) Sex-Linked Genetic Disorders: Disorder Hemophilia Muscular Dystrophy Symptoms Failure of blood to clot Wasting away of muscles; Shortened life expectancy Individuals cannot distinguish between certain Colorblindness colors (most common can’t distinguish red from green) Pattern of Frequency among Inheritance Human births X-linked 1/7,000 Recessive X-linked 1/10,000 Recessive X-linked Recessive 1/13 males 1/100 females 18