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Welcome AP Super-teachers! Mendelian Genetics November 3, 2011 Chapter 14 (in Campbell) Mendelian Genetics The Father of Genetics & Cook for the Abbey Chapter 14 Objective 1 • TSW: Recognize the differences/similarities between the terms: Trait, Character, allele, gene Character and Trait Fig: 14.4 One from EACH parent Sperm AND Egg Chapter 14 Objective 2 • TSW: Recognize and explain the differences and “ source” between the following terms: phenotype and genotype; truebreed and hybrid Phenotype vs. Genotype Physical Trait vs. Gene allele type Chapter 14 Objective 3 • TSW: Understand and apply Mendel’s laws of Segregation and Independent assortment Teach the Skill • Mendel’s Law of Segregation (Segregate means “to separate”) – The genes ON chromosomes can move independently of one another. – This is supported by what happens during Crossover of Prophase I. Teach the Skill • Mendel’s Law of Independent ASSORTMENT (This basically states that VARIATIONS are possible on chromosomes.) ( Assortment means “variety exists”) – This states that chromosomes move independently of one another. – This occurs at Anaphase I and II in Meiosis. It also occurs in Anaphase of Mitosis too. Chapter 14 Objective 4 • TSW: Be able to calculate probability in genetic problems using the rule of multiplication. • Be able to relate these problems to punnett squares of genotypes. • Probability worksheet* • EXAMPLE: What is the probability that the following parents will produce the indicated (DESIRED) offspring? Assume Independent Assortment of all gene pairs. • • Parents Genotypes: • Male: AABb CC X Mother: Aa Bb cc • Offspring (Desired) Genotype: AABbCc • How to work quickly • • • • • • • • • • l l MALE: A A l B b l C C ↓↙ l X l ↓X↓ FEMALE: A a l B b l c c l l OFFSPRING: A A l B b l C c (DESIRED) l l # of Arrows: 2 l 2 l 4 l l 1/ Fraction: x 1/2 x 1 = 1/4 2 Probability OR 25% Chance for that DESIRED genotype outcome Chapter 14 Objective 5 • TSW: Work with, relate phenotypic ratio outcomes, and Mendel’s laws associated with Punnett Squares. LE 14-7 Dominant phenotype, unknown genotype: PP or Pp? Recessive phenotype, known genotype: pp If Pp, then 2 offspring purple and 1 2 offspring white: If PP, then all offspring purple: p 1 p P p p P Pp Pp Pp P Pp P Pp Pp pp pp Fig: 14.8 (Dihybrid) Chapter 14 - Objective 6 Teach the Skill • TSW: Differentiate and give specific examples related to the following terms: Co.mplete Dominance, Incomplete Dominance, and Codominance Complete Teach the Skill Incomplete Teach the Skill Codominance Teach the Skill & Cell Signaling tie-in Chapter 14 Objective 7 • TSW: Understand, give specific examples, and relate to Punnett Squares with the concept of Multiple Alleles Multiple Alleles Teach the Skill & Cell Signaling tie-in Chapter 14 Objective 8 • TSW: Understand and give examples of the following terms: Pleiotropy, Epistasis, Polygenic Inheritance, and Multifactorial Teach the Skill & Tie into Protein Synthesis and Protein Structure • Pleiotropy – This is where one gene affects multiple Phenotypes. ( “Pleio” means “multiple”) – Sickle Cell Disease is a great example. (This gene AFFECTS the red blood cells Shape, Oxygen carrying ability, Malaria resistance, etc.) The one gene is affecting multiple phenotypes. • Pleiotropy (Sickle Cell) Teach the Skill • Epistasis (Fig: 14.11) – A gene at one locus affects a gene at a second locus. – Hair is a great example. (Several genes are interacting to “create” hair’s phenotypes – These are: color, shape, thickness, texture, etc.) (“epi” means “source”; “stasis” means location) The source is affecting another location. • Gets a 9:3:4 ratio – This is key. LE 14-11 BbCc BbCc Sperm 1 1 1 1 1 4 BC 1 4 1 bC 4 1 Bc 4 bc 4 BC BBCC BbCC BBCc BbCc 4 bC BbCC bbCC BbCc bbCc 4 Bc BBCc BbCc BBcc Bbcc 4 bc BbCc bbCc Bbcc bbcc 9 16 3 16 4 16 Teach the Skill • Polygenic Inheritance (Fig: 14.12) – This is where there exist many different degrees of phenotypic outcomes. – This is due to Quantitative Characters. (Quantity -how many alleles did you receive from your parents.) – “poly” means “many”; “ genie” refers to “genes”; “inheritance” from your parents – Skin Color is a great example. (We have many different degrees of skin pigmentation ranging from Albino Black, Black. It depends on how many copies of the same gene for making the skin pigment melanin you inherited from your parents in the sperm and egg.) – Norm of the Reaction – This refers to where the majority of organisms fall on the bell curve for that trait. • Evolution? The norm can tell you about the type of environment organisms live in. The norm is because some trait is beneficial in that environment. LE 14-12 AaBbCc aabbcc 20/64 Fraction of progeny 15/64 6/64 1/64 Aabbcc AaBbcc AaBbCc AaBbCc AABbCc AABBCc AABBCC Teach the Skill & Tie back into Ecology • Multifactorial (Fig: 14.13) – Many ENVIRONMENTAL factors are affecting the phenotypic display of genes in that organism. – This gives fuel to the argument over Nature vs. Nurture in organisms. (The genetics vs. the environment.) • While there are equally legitimate arguments for both sides. The overwhelming evidence supports a 50/50 reality. 50% of our behavior is innate (in our genetics); after all who teaches a dog to bark. The other 50% comes from our experiences or living environment; such as eating good foods affects the body you “create” over time. • Height, intelligence, and weight can all be considered multifactorial. Multifactorial example (Acid in soil changes the color) Chapter 14 Objective 9 • TSW: Be able to read, discuss, and convey inheritance patterns using pedigrees. LE 14-14b First generation (grandparents) Second generation (parents plus aunts and uncles) Ff FF or Ff Ff ff Third generation (two sisters) Attached earlobe Recessive trait (attached earlobe) ff ff Ff Ff ff FF or Ff Ff ff Free earlobe LE 14-14a Ww ww ww Ww ww ww Ww WW or Ww Widow’s peak Dominant trait (widow’s peak) Ww Ww First generation (grandparents) Second generation (parents plus aunts and uncles) ww Third generation (two sisters) ww No widow’s peak Pedigree of Color Blindness Pedigree 3 • males = square • females = circle • 1/2 Shaded = unaffected carrier • shaded = affected • Claim (PoI) = • Reason = How do maternal patterns of inheritance relate to mitochondria? Chapter 14 Objective 10 • TSW: Explain the inheritance of recessive and dominant disorders. Human Recessive Disorders • Cystic Fibrosis (Also referred to as “CF’.) – – – – This is the most common lethal genetic disease. This disorder affects 1 in 2,500 births. In Caucasians, 1 in 25 people is a carrier for the disorder. The disorder creates a faulty Chloride ion (Cl-) protein carrier on cell membranes in the lungs. This causes fluid (water0 to build up in the lung tissues. » People drown in their own fluid. » They are also prone to get multiple infections in the lungs. – Treatment? Since it is genetic there is NO cure. Patients have to get the fluid drained from the lungs periodically for their ENTIRE life. There are medicines to help reduce the number of times this has to occur. Recessive • Tay-Sachs Disease – This disorder creates a non-functional lysosome in brain cells. Brain cells need massive amounts of energy to function properly; therefore, they feed upon lipids primarily. The lysomomes break them down using beta oxidation for use in cellular respiration. The lysosomes associated with this disorder are missing an enzyme to be able to do this; so they just fill up with lipids. The cells fill with lipids and then die. – This disorder mainly affects the Jewish Culture because of marrying within the culture. The Jewish culture has a high percentage of carriers. – The children affected, usually die a painful, blind death by age 5. Recessive (BE CAREFUL IN DISCUSSING) • Sickle-cell Disease (Fig: 5.21 Pg. 84) – This disorder is the most common genetic disorder within the black population. Other populations can get it too. It is not exclusive. – It affects 1 in 400 births. – The 6th Amino Acid is changed (Glutein Valine) in the PRIMARY sequence of one of the proteins needed to make red blood cells. (The easy way to remember this is: 666 is the number of the beast. 6 is the amino acid that changed to create this horrible disease. It went from good [glutein] to very bad [valine].) – Sickle- cell trait (“trait” is used to refer to individuals that are carriers.) » These individuals have resistance to Malaria because of the ONE recessive allele they possess but mainly have normal red blood cells for carrying oxygen. » This is referred to as the Heterozygous Advantage. They have an advantage over individuals that are homozygous dominant or homozygous recessive. Homozygous dominant are NOT resistant to Malaria. Homozygous recessive are also resistant to Malaria; BUT they have the disease to contend with. » Sickle – cell identification of carriers in individuals is important to avoid this disorder from occurring. – These sickle shaped cells have reduced oxygen carrying ability. They also are painful when the points of the cell jab into the walls of the blood vessels. – Treatment? There is no cure as it is genetic. Some medicines help with the pain or low oxygen levels. • Dominant Human Disorders • Achondroplasia (Fig: 14.15) (This is referred to as Genetic Dwarfism.) – This disorder affects 1 in 10,000 births. – Most people are homozygous recessive and there for much taller than these individuals. Dominant (BE CAREFUL IN DISCUSSING) • Huntingdon’s Disease – This disorder affects 1 in 10,000 births. – It has a late life onset – usually in the 40-50 age range. (Usually AFTER children are born.) – The dominate gene has a locus on tip of Autosome 4. – Family history is important in diagnosis of this disorder. (Pedigree can help.) – It is a slow degenerative disorder affecting the brain that is almost always fatal. • Chapter 15 (in Campbell) Chromosomal Inheritance Chapter 15 Objective 1 • TSW: Be able to understand the difference between the terms: wild type and mutant type. Wild type (red) vs. Mutant type (white) Chapter 15 Objective 2 • TSW: Understand and relate to a pedigree, to incude occurrence rates, the difference between the terms: linked genes and sexlinked genes. Autosomes and linked genes Sex-Linked Male Teach the Skill Most common on the AP exam • Color Blindness – This is the result of a faulty gene (recessive) on the X chromosome for making a particular type of color absorbing protein in cones of the retina of the eye. • The most common type is Red/Green Colorblindness. (Red and Green appear gray.) two • Duchenne Muscular Dystrophy (“atrophy” means “break down”) – This affects about 1 in 3,500 male births. – These individuals cannot make the muscle protein Dystrophin. (Thus the name DYStrophy) – This disorder is a slow weakening of the muscles until around age 20. They then become confined to a wheelchair until death soon after. Three • Hemophilia (Means “love of bleeding”) – These individuals cannot make Anti-hemolytic Factor. (AHF for short.) – They experience problems with bleeding to death. – This was a disorder associated with the “Royal Blue-Bloods of Europe” – They were inbreeding to keep the crown “ In the Family”. – Treatment? These individuals have to keep AHF with them at all times in case they get hurt. If they do get hurt and start to bleed they will require a shot of AHF to stop the bleeding. Even a bruise (bleeding under the skin) can possibly lead to death. Chapter 15 Objective 3 • TSW: Be able to construct a linkage map using crossover frequency. Linkage Map Construction – He used crossover rates to determine the loci on chromosomes. (Fig: 15.7) • The finished product is called a Linkage Map. (Fig. 15.8) • The smaller the rate; the closer they are to each other on the same chromosome. • The higher the rate; the farther apart they are from each other on the same chromosome. • The loci are measured in Centimorgans or map units. LE 15-7 Recombination frequencies 9% 9.5% 17% b Chromosome cn vg Chapter 15 Objective 4 • TSW: Explain and relate the terms: X inactivation and mosiacism. Teach the Skill • X Inactivation (Turning “off” one of the X chromosomes.) – This ONLY occurs in females because females have two X’s (Males only have one and it MUST remain active.) – A Barr body is formed (From condensing one of the X chromosomes) to inactivate one set of information. • The Barr body will be located on the nuclear envelope. (Criminal Forensics? This is how they can tell the sex of the suspect. Males do not have them on their nuclear envelope.) – Mosaicism (Fig: 15.11) (A Mosaic is a puzzle.) • In humans, it is called “Complex Skin”. (Dry spots from mom’s X chromosome mixed with Sweaty “Greasy” spots from dad’s X chromosome.) • Facial products is a Billion Dollar Industry as it only affects females, who tend to be VERY concerned with their facial appearance and types of makeup that “Work” on their “skin type”. Barr Body Fig: 15.11 Chapter 15 Objective 5 • TSW: Differentiate between, identify, and recognize terms associated with the following abnormalities: Chromosomal Number and Chromosomal Structure. Number WHEN IS IMPORTANT & Teach the Skill Structure & Teach the Skill Chapter 15 Objective 6 • TSW: Understand and relate the importance of genomic imprinting. Uniqueness • Genomic Imprinting – Essentially, this is “Erasing” your PARENTS unique information to create YOUR own unique information. – “Erasing” genetic information is accomplished by heavy Methylation. • Attaching large amounts of methyl (CH4 molecules) to the DNA. • This acts like a “jacket” covering up the underlying genes. – The amount varies for each cell that undergoes meiosis. • If very little occurs – the offspring have a strong resemblance to the parents. • If a lot occurs – the offspring have very little resemblance to the parents. Chapter 15 Objective 7 • TSW: Understand and relate the importance of extra-nuclear DNA. Extranuclear DNA (This DNA CAN can affect an organism)