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AP BIOLOGY GENETICS Review Kelly Riedell Brookings Biology Animation from: http://www.tokyo-med.ac.jp/genet/anm/domov.gif The failure of homologous chromosomes to separate resulting in cells with missing or extra chromosomes is NON-DISJUNCTION called _________________ Name a genetic disorder you learned about that results from this mistake during meiosis. Down syndrome (trisomy 21) Turner syndrome (XO) Klinefelter syndrome (XXY) 3.A.3..c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. This organized picture of an individual’s chromosomes is called a karyotype __________________ The person shown above is a male female Female There are 2 X chromosomes and no Y chromosome. Essential knowledge 3.A.4: The inheritance pattern of many traits cannot be explained by simple Mendelian genetics. b. Some traits are determined by genes on sex chromosomes. To foster student understanding of this concept, instructors can choose an illustrative example such as: • In mammals and flies, females are XX and males are XY; as such, X-linked recessive traits are always expressed in males. http://highered.mcgraw-hill.com/sites/0072485949/student_view0/chapter3/interactive_activity.html Could this trait be inherited as X-LINKED RECESSIVE? Fill in the genotypes for A, B, C, and D Can’t be XLINKED RECESSIVE XdXd XD Y XDY Xd Xd XdXd XD X? 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.16 The student is able to explain how the inheritance patterns of many traits cannot be accounted for by Mendelian genetics. [See SP 6.3] LO 3.17 The student is able to describe representations of an appropriate example of inheritance patterns that cannot be explained by Mendel's model of the inheritance of traits. See SP 1.2] Image from: http://worms.zoology.wisc.edu/zooweb/Phelps/ZWK99010k.jpeg Male There is one X and 1 Y sex chromosome. The person shown in this karyotype is male female Essential knowledge 3.A.4: The inheritance pattern of many traits cannot be explained by simple Mendelian genetics. b. Some traits are determined by genes on sex chromosomes. To foster student understanding of this concept, instructors can choose an illustrative example such as: • In mammals and flies, females are XX and males are XY; as such, X-linked recessive traits are always expressed in males. Name an X-linked genetic disorder. Hemophilia, colorblindness, Duchenne Muscular dystrophy These genetic disorders show up A. in equal frequencies in males & females B. more frequently in females than males C. more frequently in males than females 3.A.4:.1. b. Some traits are determined by genes on sex chromosomes. To foster student understanding of this concept, instructors can choose an illustrative example such as: • • Sex-linked genes reside on sex chromosomes (X in humans). In mammals and flies, females are XX and males are XY; as such, X-linked recessive traits are always expressed in males. Genes that are farther apart on a chromosome show a ___________ GREATER crossover frequency than those that are closer together. SMALLER GREATER 3.A.3.b.2 Genes that are adjacent and close to each other on the same chromosome tend to move as a unit; the probability that they will segregate as a unit is a function of the distance between them. A Wild type fruit fly (heterozygous for normal bristles and red eyes) is mated with a spineless bristle fly with sepia eyes. Recombinants = OFFSPRING: Total 648- normal bristles/red eyes 681- spineless bristles/sepia eyes 155 = 10.4% 1484 72- normal bristles/sepia eyes 83- spineless bristles/red-eyes What is the recombination frequency between these genes? 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] Explain WHY X-linked genetic disorders show up more frequently in males than females. Males only have one X chromosome (XY) If males inherit an X with a mutation they will show the trait. Females have 2 X’s. If they inherit an X with a mutation they have a “back up” normal X; Females need to inherit TWO mutated X chromosomes to show the trait 3.A.4:.1. b. Some traits are determined by genes on sex chromosomes. To foster student understanding of this concept, instructors can choose an illustrative example such as: • • Sex-linked genes reside on sex chromosomes (X in humans). In mammals and flies, females are XX and males are XY; as such, X-linked recessive traits are always expressed in males. lImage from: es.ubacbcbio54mercedes.webnode.com.ar/system_preview_detail_200000082-a01c2a115a-public/hemophilia_pedigree_royal-01.png Name the genetic disorder caused by a mutation in the gene that codes for blood clotting proteins __________ Hemophilia which is found in a pedigree of the royal families of Europe This disorder is inherited as a(n) X-LINKED RECESSIVE __________ ___________ trait. Autosomal X-linked Dominant Recessive LO 3.17 The student is able to describe representations of an appropriate example of inheritance patterns that cannot be explained by Mendel's model of the inheritance of traits. [See SP 1.2] Name the genetic disorder caused by a mutation in the gene that codes proteins receptors in the eye that detect color COLOR BLINDNESS This disorder is inherited as a(n) X-LINKED RECESSIVE __________ ___________ trait. Autosomal X-linked Dominant Recessive LO 3.17 The student is able to describe representations of an appropriate example of inheritance patterns that cannot be explained by Mendel's model of the inheritance of traits. [See SP 1.2] Name the genetic disorder caused by a mutation resulting in progressive muscle degeneration and weakness and early death. DUCHENNE MUSCULAR DYSTROPHY This disorder is inherited as a(n) X-LINKED RECESSIVE __________ ___________ trait. Autosomal X-linked Dominant Recessive 3>A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. To foster student understanding of this concept, instructors can choose an illustrative example such as: • Sickle cell anemia • Tay-Sachs disease • Huntington's disease • X-linked color blindness • Trisomy 21/Down syndrome • Klinefelter's syndrome Name the lysosomal storage disorder in which the lipids build up in the brain causing blindness, mental retardation, and early death that is more common in people of Jewish & Middle Eastern descent TAY-SACHS This disorder is inherited as a(n) AUTOSOMAL RECESSIVE __________ ___________ trait. Autosomal X-linked Dominant Recessive 3>A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. To foster student understanding of this concept, instructors can choose an illustrative example such as: • Sickle cell anemia • Tay-Sachs disease • Huntington's disease • X-linked color blindness • Trisomy 21/Down syndrome • Klinefelter's syndrome Name the genetic disorder in which the amino acid phenylalanine is not broken down and caused by and builds up in the brain causing mental retardation. PHENYLKETONURIA (PKU) This disorder is inherited as a(n) __________ ___________ trait. AUTOSOMAL RECESSIVE Autosomal X-linked Dominant Recessive 3>A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. To foster student understanding of this concept, instructors can choose an illustrative example such as: • Sickle cell anemia • Tay-Sachs disease • Huntington's disease • X-linked color blindness • Trisomy 21/Down syndrome • Klinefelter's syndrome Name the genetic disorder caused by a faulty chloride transporter which results in sticky mucous to building up in lungs and digestive organs. CYSTIC FIBROSIS This disorder is inherited as a(n) AUTOSOMAL RECESSIVE __________ ___________ trait. Autosomal X-linked Dominant Recessive 3>A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. To foster student understanding of this concept, instructors can choose an illustrative example such as: • Sickle cell anemia • Tay-Sachs disease • Huntington's disease • X-linked color blindness • Trisomy 21/Down syndrome • Klinefelter's syndrome Name the genetic disorder caused multiple CAG repeats which results in progressive brain deterioration starting in middle age. HUNTINGTON’S This disorder is inherited as a(n) AUTOSOMAL DOMINANT __________ ___________ trait. Autosomal X-linked Dominant Recessive 3>A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. To foster student understanding of this concept, instructors can choose an illustrative example such as: • Sickle cell anemia • Tay-Sachs disease • Huntington's disease • X-linked color blindness • Trisomy 21/Down syndrome • Klinefelter's syndrome Image from: https://geneticdisordersproject.wikispaces.com/file/view/Family_Roloff.jpg/33526623/285x429/Family_Roloff.jpg Name the genetic disorder in which growth plates in arms and legs fuse too early resulting in short stature and bone malformations ACHONDROPLASIA This disorder is inherited as a(n) AUTOSOMAL DOMINANT __________ ___________ trait. Autosomal X-linked Dominant Recessive 3>A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. To foster student understanding of this concept, instructors can choose an illustrative example such as: • Sickle cell anemia • Tay-Sachs disease • Huntington's disease • X-linked color blindness • Trisomy 21/Down syndrome • Klinefelter's syndrome Name the genetic disorder resulting from three #21 chromosomes characterized by in small stature, upward slant to eyes, and mild to moderate cognitive delays DOWN SYNDROME/trisomy 21 This extra chromosome is the result of which mistake during meiosis? NON-DISJUNCTION 3>A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. 3.C.1.2. Changes in chromosome number often result in human disorders with developmental limitations, including Trisomy 21 (Down syndrome) and XO (Turner syndrome). [See also 3.A.2, 3.A.3] Name the genetic disorder seen in males who inherit an extra X chromosome (XXY) resulting in delayed puberty, breast enlargement, reduced facial and body hair, and infertility KLINEFELTER SYNDROME This extra chromosome is the result of which mistake during meiosis? NON-DISJUNCTION 3>A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. To foster student understanding of this concept, instructors can choose an illustrative example such as: • Klinefelter's syndrome 3.C.1.2. Changes in chromosome number often result in human disorders with developmental limitations, including Trisomy 21 (Down syndrome) and XO (Turner syndrome). [See also 3.A.2, 3.A.3] Name the genetic disorder seen in females who are missing one of their X chromosomes (XO) resulting in short stature, webbed neck, infertility, and learning difficulties. TURNER SYNDROME This missing chromosome is the result of which mistake during meiosis? NON-DISJUNCTION 3>A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. 3.C.1.2. Changes in chromosome number often result in human disorders with developmental limitations, including Trisomy 21 (Down syndrome) and XO (Turner syndrome). [See also 3.A.2, 3.A.3] A person who has a copy of the gene for a recessive disorder but doesn’t show any signs of the sickness is carrier called a ____________ Which of the following is/are true? Only males can be carriers for X-linked recessive traits Only females can be carriers for X-linked recessive traits Both males and females can be carriers for X-linked recessive traits LO 3.15 The student is able to explain deviations from Mendel's model of the inheritance of traits. [See SP 6.5] LO 3.16 The student is able to explain how the inheritance patterns of many traits cannot be accounted for by Mendelian genetics. [See SP 6.3] Which of the following is/are true? Only males can be carriers for autosomal recessive traits Only females can be carriers for autosomal recessive traits Both males and females can be carriers for autosomal recessive traits LO 3.15 The student is able to explain deviations from Mendel's model of the inheritance of traits. [See SP 6.5] LO 3.16 The student is able to explain how the inheritance patterns of many traits cannot be accounted for by Mendelian genetics. [See SP 6.3] Genetic disorder in which the DNA code for hemoglobin is changed. Red blood cells with the damaged hemoglobin protein can change into a sickle shape and clog up the blood vessels. SICKLE CELL ANEMIA This disorder is inherited as a(n) AUTOSOMAL CODOMINANT __________ ___________ trait. Autosomal X-linked Dominant Recessive Codominant 3>A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. To foster student understanding of this concept, instructors can choose an illustrative example such as: • Sickle cell anemia • Tay-Sachs disease • Huntington's disease • X-linked color blindness • Trisomy 21/Down syndrome • Klinefelter's syndrome A trait that is controlled by several genes (like skin color or height) is called ______________ Polygenic A trait in which there are three or more choices for a single gene (like A, B, and O blood type) is a called a _____________________ trait. MULTIPLE ALLELE polygenic multiple allele Essential knowledge 3.A.4: The inheritance pattern of many traits cannot be explained by simple Mendelian genetics. a. Many traits are the product of multiple genes and/or physiological processes. A C B Which individual(s) shows the genetic trait? A Which individual(s) is/are male? A Which individual(s) is/are female? B and C Which individual(s) is/are carriers for the trait? C 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. This diagram shows pedigree a ________________ Karyotype Pedigree Punnett square X-linked traits _______________ A. Only show up in females B. Show up more frequently in males C. can be heterozygous in males D. only pass from mothers to daughters 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.16 The student is able to explain how the inheritance patterns of many traits cannot be accounted for by Mendelian genetics. [See SP 6.3] LO 3.17 The student is able to describe representations of an appropriate example of inheritance patterns that cannot be explained by Mendel's model of the inheritance of traits. See SP 1.2] Sickle cell anemia is a disorder which shows heterozygote advantage. Individuals who are heterozygous for the sickle cell allele and who live in certain environments are resistant to which other deadly disease? MALARIA 3.C.1.A.1 DNA mutations can be positive, negative or neutral based on the effect or the lack of effect they have on the resulting nucleic acid or protein and the phenotypes that are conferred by the protein. Evidence of student learning is a demonstrated understanding of the following: 1. Whether or not a mutation is detrimental, beneficial or neutral depends on the environmental context. Sickle cell anemia is more common in African Americans ____________________ Males females African Americans Caucasians Caucasians Cystic fibrosis is more common in ___________ Males females African Americans Caucasians IDENTIFY SOME OF THE CAUSES OF GENETIC MUTATIONS Mistakes in replication (copy errors) Mistakes in DNA repair Mistakes in meiosis (crossing over errors, nondisjunction) Mutagens in environment (Chemicals like cigarette smoke or radiation) 3.C.3. b. Errors in DNA replication or DNA repair mechanisms, and external factors, including radiation and reactive chemicals, can cause random changes, e.g., mutations in the DNA. Which of the following is NOT visible in a karyotype ? Sex of baby Missing or extra chromosomes a point mutation How is a karyotype different from a pedigree? Karyotype shows the chromosomes from an individual Pedigree shows how a trait is passed in families over many generations Name 3 disorders that are: Autosomal recessive _______________ Phenylketonuria (PKU) Tay-Sach’s ________________ Cystic fibrosis ________________ X linked recessive _______________ Hemophilia Colorblindness _______________ Muscular dystrophy (DMD) _______________ Name 3 disorders that is caused by nondisjunction: ___________________ Down syndrome ___________________ Turner syndrome ___________________ Klinefelter syndrome 3.A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. Name disorders that are: Autosomal Dominant ________________ Huntington’s Achondroplasia ________________ Autosomal Codominant ___________________ Sickle cell anemia 3.A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. To foster student understanding of this concept, instructors can choose an illustrative example such as: • Sickle cell anemia • Tay-Sachs disease • Huntington's disease • X-linked color blindness • Trisomy 21/Down syndrome • Klinefelter's syndrome Sickle cell anemia is more common in African Americans ____________________ Males females African Americans Caucasians Caucasians Cystic fibrosis is more common in ___________ Males females African Americans Caucasians LO 3.12 The student is able to construct a representation that connects the process of meiosis to the passage of traits from parent to offspring. [See SP 1.1, 7.2] Image from: http://www.mansfield.ohio-state.edu/~sabedon/biol1128.htm#A1 Could this trait be an AUTOSOMAL RECESSIVE trait? 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.12 The student is able to construct a representation that connects the process of meiosis to the passage of traits from parent to offspring. [See SP 1.1, 7.2] Image from: http://www.mansfield.ohio-state.edu/~sabedon/biol1128.htm#A1 Could this trait be an AUTOSOMAL RECESSIVE trait? aa Aa aa aa Aa aa aa Aa aa Aa aa aa aa YES IT IS POSSIBLE 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.12 The student is able to construct a representation that connects the process of meiosis to the passage of traits from parent to offspring. [See SP 1.1, 7.2] MAKE A PREDICTION about the mode of inheritance for the following trait and PROVIDE EVIDENCE for your answer. Female wild type flies are crossed with purple eyed males. Offspring are shown below F1 F2 511 wild type females 377 Wild type females 498 wild type males 383 Wild type males 119 Purple eyed females 121 Purple eyed males Purple eyes is an autosomal recessive Only wild type flies appear in F1 generation/no purple eyed flies Purple eyed trait returns in 3:1 ratio in F2 generation Classic Mendelian ratio 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] Colorblindness is an X-linked recessive trait. If a man and a woman, both with normal vision, marry and have a colorblind son, draw the Punnett square that illustrates this. XC Y XC XCXC XCY Xc XCXc XcY To have a color blind son, mom must be a carrier. Dads give Y’s to sons so mutant allele must come from mom Boys with X-linked recessive traits inherit them from their mothers 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.12 The student is able to construct a representation that connects the process of meiosis to the passage of traits from parent to offspring. [ LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] Write the genotype of each individual next to the symbol. Aa Aa Aa or AA aa Is it possible that this pedigree is for an autosomal recessive trait? YES 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] POSSIBLE PARENT GAMETES? RrYy ________________________ RY ry rY Ry What process seen in meiosis results in the genetic variation in the gametes produced INDEPENDENT in the above diagram? ASSORTMENT 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be p redicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.12 The student is able to construct a representation that connects the process of meiosis to the passage of traits from parent to offspring. [See SP 1.1, 7.2]] Colorblindness is an X-linked recessive trait. Make a cross between a colorblind male and a female with a normal vision whose father was not color blind. SHOW the GENOTYPE AND PHENOTYPE frequencies of all offspring Xc Y FREQUENCY GENOTYPES XC XCXc XCY PHENOTYPES 50% XC Xc Normal female (carrier) 50% XC Xc Normal male XC XCXc XCY 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.12 The student is able to construct a representation that connects the process of meiosis to the passage of traits from parent to offspring. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] IF PARENT GENOME : AaBbCcDD What is the probability of producing a gamete with this gene combination? ½ X ½ X ½ X 1 = 1/8 abcD ________________________ Abcd ________________________ ½ X½ X½ X0=0 IF PARENT GENOME : AaBbCcDd What is the probability of producing a gamete with this gene combination? ABcd ________________________ ½ X ½ X ½ X ½ = 1/16 aBCD ________________________ ½ X 1 X ½ X ½ = 1/8 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.12 The student is able to construct a representation that connects the process of meiosis to the passage of traits from parent to offspring. [See SP 1.1, 7.2] In dogs hereditary deafness is caused by a recessive gene (d). A kennel owner has a hearing male dog that she wants to use for breeding purposes if possible. She would like to avoid having deaf puppies. DD What are the possible genotypes of this male dog? ______ Dd ______ dd to try and A testcross would use a female dog with this genotype _____ determine if this male dog should be used for breeding. A testcross is done and a litter of puppies is born that includes the following: 5 hearing puppies and 2 deaf puppies What can you conclude about the male dog’s unknown genotype? Male dog is Dd since offspring includes deaf puppies DD dogs can’t produce deaf puppies 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] Image from: http://www.mansfield.ohio-state.edu/~sabedon/biol1128.htm#A1 Could this trait be an AUTOSOMAL DOMINANT trait? 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.12 The student is able to construct a representation that connects the process of meiosis to the passage of traits from parent to offspring. [See SP 1.1, 7.2] Image from: http://www.mansfield.ohio-state.edu/~sabedon/biol1128.htm#A1 Could this trait be an AUTOSOMAL DOMINANT trait? Aa AUTOSOMAL DOMINANT IMPOSSIBLE aa Aa Aa aa Aa Aa aa Aa aa Aa Aa Aa This individual has trait but neither of her parents show it 3.A.3.b.3. The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.12 The student is able to construct a representation that connects the process of meiosis to the passage of traits from parent to offspring. [See SP 1.1, 7.2] What is the probability? AaBbCcDd X AaBbCcDd parents What is the probability of producing a offspring with this gene combination? ¼ X ½ X ½ X ½ = 1/32 AABbCcDd _____________________________ ½ X ¼ X ¼ X ¼ = 1/128 AaBBccdd______________________________ ½ X ½ X ½ X ½ =1/16 AaBbCcDd_______________________________ 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] Cystic fibrosis is an autosomal recessive disorder. What is the chance that two carriers will have a child with cystic fibrosis? F F f f FF Ff Ff ff 25% of offspring will have CF #.A.3.b.3. The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.12 The student is able to construct a representation that connects the process of meiosis to the passage of traits from parent to offspring. [ See SP 1.1, 7.2] LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] What is the probability? AaBbCcDD parent genome What is the probability of producing a gamete with this gene combination? ½ X ½ X ½ X 1 = 1/8 abcD _____________________________ ½X½ X½X0 =0 abcd ______________________________ ½ X ½ X ½ X 1 = 1/8 AbcD ______________________________ 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] One classic example NON-MENDELIAN genetics is that in many flowering plants such as roses, snapdragons, and hibiscus, there is a gene for flower color with two alleles: red and white. However, in that case, white is not merely the absence of red, but that allele actually codes for, “make white pigment.” Thus the flowers on a plant that is heterozygous have two sets of instructions: “make red,” and “make white,” with the result that the flowers turn out mid-way in between; they’re pink. This type of dominance is called INCOMPLETE DOMINANCE ________________________ 3.A.4: The inheritance pattern of many traits cannot be explained by simple Mendelian genetics. In dogs hereditary deafness is caused by a recessive gene (d). A kennel owner has a hearing male dog that she wants to use for breeding purposes if possible. She would like to avoid having deaf puppies. DD What are the possible genotypes of this male dog? ______ Dd ______ dd to try and A testcross would use a female dog with this genotype _____ determine if this male dog should be used for breeding. A testcross is done and a litter of puppies is born that includes the following: 5 hearing puppies What can you conclude about the male dog’s unknown genotype? Still unknown; Both DD and Dd dogs can produce hearing puppies Do another test cross 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] Image from: http://antiagingpress.org/help-my-hair-is-thinning-part-two.html/ An example NON-MENDELIAN genetics is that the expression of certain traits is dependent on the organism’s sex. The same gene can produce different phenotypes in males vs females. EX: Male pattern baldness OR milk production in females This type of inheritance is called ________________________ SEX LIMITED 3.A.4:The inheritance pattern of many traits cannot be explained by simple Mendelian genetics. b. Some traits are sex limited, and expression depends on the sex of the individual, such as milk production in female mammals and pattern baldness in males. In fruit flies black body and vestigial wings is recessive to the wild type gray body and normal wings. A cross between a homozygous wild type fly with a black body vestigial winged fly produces 100% wild type offspring. An F1 Wild type fruit fly (heterozygous for gray body and normal wings) is mated with a black fly with vestigial wings and the offspring shown below: 778- wild type 785- black-vestigial 158- black- normal wings 162- gray body-vestigial wings What is the recombination frequency between these genes? Recombinants = Total 320 = 17% 1883 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] An example NON-MENDELIAN genetics is seen in human ABO BLOOD TYPING. Individuals who are heterozygous with both an A allele and a B allele make BOTH kinds of glycoproteins on the surface of their cells. This type of dominance where neither allele is dominant over the other and BOTH are expressed together at the same time is called CODOMINANCE ________________________ 3.A.4: The inheritance pattern of many traits cannot be explained by simple Mendelian genetics. X-LINKED Cross a hemophilia male with a carrier female XH Xh h X Y H h X X H X Y Xh Xh Xh Y PHENOTYPES? 25%- hemophilia female 25%- hemophilia male 25%- normal male 25% - normal (carrier) females 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] What is the probability? AaBbCcDd parent genome What is the probability of producing a gamete with this gene combination? ½ X ½ X ½ X ½ = 1/16 ABCD _____________________________ ½ X ½ X ½ X ½ = 1/16 aBcD _______________________________ 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] Write the genotype of each individual next to the symbol. XB Y XB Xb XB Y Xb Xb Is it possible that this pedigree is for an X-linked recessive trait? NO 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] https://www.researchgate.net/profile/Tahir_MOHI-UD-DIN_MALLA/publication/281810039/figure/fig2/AS:280680664715298@1443930893811/Representative-karyotype-46XO-of-a-primary-amenorrhea-female-with-Turner's-syndrome.png This karyotype shows the chromosomes from a person with which genetic disorder? Turner syndrome- females with only one X This extra X chromosome is the result of which process that goes wrong during meiosis? NONDISJUNCTION 3.A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. What is the probability of having 6 children and they are ALL boys? ½ X ½ X ½ X ½ X ½ X ½ = 1/64 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] http://waynesword.palomar.edu/images4/TongueMyth1.jpg The ability to curl your tongue up on the sides (T, tongue rolling) is dominant to not being able to roll your tongue (t). A woman who can roll her tongue marries a man who cannot. Their first child has his father's phenotype. What are the genotypes of the mother, father, and child? MOTHER: ____ Tt tt FATHER: ____ tt CHILD: ____ What is the probability their next child will be a tongue roller? 50% _____ 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] http://www.mybookezzz.org/ebook.php?u=aHR0cDovL21jYi5iZXJrZWxleS5lZHUvY291cnNlcy9tY2I0MS9wcmFjdGljZV9wcm9ibGVtc19hbnN3LnBkZgpQcmFjdGljZSBwcm9ibGVtcyAod2l0aC BhbnN3ZXJzKSBUaGlzIGlzIHRoZSBkZWdyZWUgb2YgZGlmZmljdWx0eSBvZiAuLi4= The inheritance of the disorder in II-3 from his father rules out what form of inheritance? Xb Y Xb Y Can’t be X-linked recessive Males get their X-linked allele from their mother If dad passed to son it must be AUTOSOMAL 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] MAKE A PREDICTION about the mode of inheritance for the following trait and PROVIDE EVIDENCE for your answer. Female wild type flies are crossed with purple eyed males. Offspring are shown below F1 F2 511 wild type females 377 Wild type females 498 wild type males 383 Wild type males 119 Purple eyed females 121 Purple eyed males Purple eyes is an autosomal recessive Only wild type flies appear in F1 generation/no purple eyed flies Purple eyed trait returns in 3:1 ratio in F2 generation Classic Mendelian ratio 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] http://highered.mcgraw-hill.com/sites/0072485949/student_view0/chapter3/interactive_activity.html Could this trait be inherited as AUTOSOMAL DOMINANT ? AUTOSOMAL DOMINANT is possible Fill in the genotypes for A, B, C, and D Aa aa Aa aa aa Aa Aa Aa Aa aa Aa aa 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.16 The student is able to explain how the inheritance patterns of many traits cannot be accounted for by Mendelian genetics. [See SP 6.3] LO 3.17 The student is able to describe representations of an appropriate example of inheritance patterns that cannot be explained by Mendel's model of the inheritance of traits. See SP 1.2] aa Determine the sequence of genes along a chromosome based on the following recombination frequencies A-C 10% A-D 30% B-C 24% B-D 16% 3.A.3.b.2 Genes that are adjacent and close to each other on the same chromosome tend to move as a unit; the probability that they will segregate as a unit is a function of the distance between them LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] In certain trees, smooth bark is dominant over wrinkled. Cross two trees that are heterozygous for smooth bark. If there are 160 offspring produced, how many will have wrinkled bark? 160 X .25 = 40 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] A Wild type fruit fly (heterozygous for gray body and normal wings) is mated with a black fly with vestigial wings. Recombinants = OFFSPRING: Total 778- wild type 314 = 16.7% 785- black-vestigial 1877 158- black- normal wings 162- gray body-vestigial wings What is the recombination frequency between these genes? 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] All humans inherit their mitochondria from __________________. A. their mother B. their father C. Both mother and father Make a connection: What event during oogenesis results in this mode of mitochondrial inheritance? Uneven division of cytoplasm during cytokinesis/production of polar bodies results majority of cytoplasm (including mitochondria!) going to one egg 3.A.4. c. 2. I In animals, mitochondrial DNA is transmitted by the egg and not by sperm; as such, mitochondrial-determined traits are maternally inherited. A cross of wild-type red-eyed FEMALE fruit flies with a violet-eyed MALE produces all red-eyed offspring. If the gene is an X-linked recessive trait, which of the following would you expect if you reversed the parents and crossed a violet-eyed FEMALE with a red-eyed wild type MALE? Xv+ Y Xv Xv+Xv XvY PHENOTYPES? 50%-violet males 50%- red-eyed females Xv Xv+Xv XvY 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] Human somatic cells are diploid (2n), but many of the foods we eat have multiple sets of chromosomes. Example: bananas are triploid (3n), apples (4n), kiwi (6n) , strawberries (8n). These are examples of what is called POLYPLOIDY _____________________ Make a connection to MEIOSIS: Most sweet bananas grown today are from a single variety produced as a result of asexual reproduction not from seeds. What role might the ploidy number in bananas play in their inability to reproduce sexually? Triploid (3n) bananas can’t do meiosis to make sperm/eggs because they have an odd number of chromosomes. Can’t pair up homologous partners during prophase I or separate homologous partners to reduce chromosome number during anaphase I. 3.C. 1.c. 1. Changes in chromosome number often result in new phenotypes, including sterility caused by triploidy and increased vigor of other polyploids. [See also 3.A.2] http://highered.mcgraw-hill.com/sites/0072485949/student_view0/chapter3/interactive_activity.html Could this trait be inherited as AUTOSOMAL RECESSIVE? Fill in the genotypes for A, B, C, and D Dd AUTOSOMAL RECESSIVE is possible dd dd D? 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.16 The student is able to explain how the inheritance patterns of many traits cannot be accounted for by Mendelian genetics. [See SP 6.3] LO 3.17 The student is able to describe representations of an appropriate example of inheritance patterns that cannot be explained by Mendel's model of the inheritance of traits. See SP 1.2] This karyotype shows the chromosomes from a person with which genetic disorder? Klinefelter syndrome- Males with XXy What happens during meiosis that results in this extra X chromosome? NONDISJUNCTION 3.A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. What is the probability? AaBbCcDd X AaBbCcDd parents What is the probability of producing a offspring with this gene combination? aabbccdd _____________________________ ¼ X ¼ X ¼ X ¼ = 1/256 ½ X¼ X¼ X¼ = 1/128 AaBBccDD______________________________ ½ X ¼ X ¼ X ½ = 1/64 AaBBCCDd______________________________ 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] The ability to taste the chemical PTC is determined by a single gene in humans with the ability to taste given by the dominant allele T and inability to taste by the recessive allele t. Suppose two heterozygous tasters (Tt) have a large family. Predict the proportion of their children who will be: tasters _________ 75% nontasters __________ 25% 75% What is the likelihood that their first child will be a taster? ________ What is the likelihood that the first three children of this couple will be nontasters? ¼ X ¼ X ¼ = 1/64 If 12 children are born to these parents, how many of them would likely be tasters? 12 X .75 = 9 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] WHAT’S THE DIFFERENCE? MONOSOMY 2n-1 2n =8 HAPLOID 1n 3.A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. A Wild type fruit fly (heterozygous for gray body and red eyes) is mated with a black fly with purple eyes. Recombinants = OFFSPRING: Total 721- gray body/red eyes 751- black body/purple eyes 94 = 6 % 1566 49- gray body/purple eyes 45- black body/red-eyes What is the recombination frequency between these genes? 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] FROM: Campbell Biology in Focus Test Your Knowledge A 1:1:1:1 ratio of offspring from a dihybrid test cross indicates that a. the genes are linked b. the dominant organism was homozygous c. crossing over has occurred d. the genes are not linked or are more than 50 map units apart 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] http://worms.zoology.wisc.edu/zooweb/Phelps/ZWK99024k.jpeg This karyotype shows the chromosomes from a person with which genetic disorder? Down syndrome- trisomy 21 What happens during meiosis that results in this extra chromosome? NONDISJUNCTION 3.A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. Albinism is inherited as an autosomal recessive trait. The first child of a normally pigmented woman of blood type AB is a boy who is albino with type B blood. The father has normal pigmentation and has type O blood. What are the chances that the next child of this couple will be an albino girl with A type blood? What we know: 1st child has aa genotype so mom and dad must both be Aa Dad has i i Mom has IA IB ¼ X ½ X ½ = 1/16 3.A.3.b..3 The pattern of inheritance (monohybrid, dihybrid, sex-linked, and genes linked on the same homologous chromosome) can often be predicted from data that gives the parent genotype/phenotype and/or the offspring phenotypes/genotypes. LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] Bacteriophage head protein mutants were isolated, identified, and lettered E, D, S, Y. The following relative recombination frequencies were observed in crosses of the mutants. Transduction mapping localized the mutant E to the 3’ end of the transcribed chromosome relative to the other mutations. If the D mutation S-D 2 % is a nonsense Y-D 3% mutation, how E-Y 2% would the mutant head Y-S 5% protein compare Mutant D protein would be shorter because to the normal nonsense mutations cause premature protein? termination of mRNA translation 3.A.3.b.2 Genes that are adjacent and close to each other on the same chromosome tend to move as a unit; the probability that they will segregate as a unit is a function of the distance between them LO 3.14 The student is able to apply mathematical routines to determine Mendelian patterns of inheritance provided by data sets. [See SP 2.2] Both of these mutations result in the addition of a A into the code where it doesn’t belong. Identify the kind of mutation shown: substitution Mutation #1 = _______________________ Mutation #2 = _______________________ Insertion/frameshift Which of these is more likely to cause more damage to the protein that this gene codes for? EXPLAIN #2- since codons are read in groups of 3, frameshifts change every amino acid after the insertion; #1 changes just one codon •3.A.3.c. Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. THE END https://img0.etsystatic.com/000/0/5897782/il_570xN.341766640.jpg