AP Biology, Chapter 14 Mendel and the Gene Idea Summary Introduction GREGOR MENDEL'S DISCOVERIES Intro 1.

Describe the favored model of heredity in the 19th century prior to Mendel. a. Called blending inheritance b. Traits of the parents mix like paints; irrevocably Mendel brought an experimental and quantitative approach to genetics: science as a process 2. Explain how observations by Mendel and others and Mendel's hypothesis of inheritance differed from the blending theory of inheritance. a. Mendel demonstrated the particulate hypothesis i. Quantitatively followed traits through multiple generations ii. Showed reappearance of hidden traits in expected proportions b. Genes are discrete heritable units i. Remain separate in offspring ii. Separate physical units pieces of meat iii. Combinations give variation 3. List several features of Mendel's methods that contributed to his success. a. Chose organism with many varieties and that gave thousands of offspring b. Strict control of pollination c. Carefully chose traits with distinct forms d. Started with "pure", true-breeding, parents e. Planned and executed experiments that took years f. Statistically analyzed his data g. Published and presented By the law of segregation, the two alleles for a character are packaged into separate gametes 4. Define true breeding, hybridization, monohybrid cross, P generation, F generation, and F generation. a. True breeding: only gives parental phenotype when self-ed b. Hybridization: cross between parents with contrasting characters c. Monohybrid cross: hybridization involving one trait d. P: parental e. F : offspring of P f. F : offspring of F 5. List and explain the four components of Mendel's hypothesis that led him to deduce the law of segregation. a. Alleles are alternate versions of genes i. Genes are generally stably located on chromosomes ii. Alternate forms may be found at those loci b. Alleles generally come in pairs, one haploid set from each parent in gametes c. Mendel chose pairs of dominant and recessive alleles i. Pure dominant x pure recessive all dominant ii. Recessive trait reappeared in F d. Alleles segregate during meiosis i. Sets of chromosomes carry sets of alleles ii. Each gamete gets one allele for each locus 6. Explain how Mendel's law of segregation got its name. a. In meiosis, 50% of gametes receive one allele, 50% the other b. Separation (segregation) of alleles into gametes 7. Use a Punnett square to predict the results of a monohybrid cross and state the phenotypic and genotypic ratios of the F generation.
1 2 1 2 1 2 2

a. Gametes on outside; copy down and across b. P: PP x pp i. Gametes: PP makes all P gametes; pp makes p ii. All offspring are Pp, purple c. F : Pp x Pp i. Gametes: both make 1/2 P + 1/2 p ii. Cross: (1/2 P + 1/2 p) = 1/4 PP + 1/2 Pp + 1/4 pp iii. F : 3/4 purple and 1/4 white 8. Distinguish between the following pairs of terms: dominant and recessive; heterozygous and homozygous; genotype and phenotype. a. Dominant and recessive i. Dominant allele completely hides recessive allele ii. That is, when they're in the same offspring b. Heterozygous and homozygous i. Homo-: have alleles that are the same, = pure ii. Hetero-: different alleles c. Genotype and phenotype i. Genotype: combination of alleles ii. Phenotype: outward expression 9. Explain how a testcross can be used to determine if a dominant phenotype is homozygous or heterozygous. a. Mendel hypothesized that the F purple were 1/3 PP + 2/3 Pp b. Randomly selected them and crossed them with pp i. PP x pp all purple ii. Pp x pp 1/2 purple + 1/2 white c. Used statistics By the law of independent assortment, each pair of alleles segregates into gametes Independently 10. Use a Punnett square to predict the results of a dihybrid cross and state the phenotypic and genotypic ratios of the F generation. a. See p. 245 for the square b. Phenotypes: 9/16 dom.-dom. + 3/16 dom.-rec. + 3/16 rec.-dom. + 1/16 rec.-rec. c. Genotypes: 1/16 homo. dom. - homo. dom. 1/8 homo. dom. - hetero. 1/8 hetero. - homo. dom. 1/16 homo. dom. - homo. rec. 1/4 hetero. - hetero. 1/8 hetero. - homo. rec. 1/16 homo. rec. - homo. dom. 1/8 homo. rec. - hetero. 1/16 homo. rec. - homo. rec. 11. Define Mendels law of independent assortment. a. = Independent segregation of each pair of alleles during gametes formation b. Exception: linkage Mendelian inheritance reflects rules of probability 12. Use the rule of multiplication to calculate the probability that a particular F individual will be homozygous recessive or dominant. a. Complete: (1/2 dom. + 1/2 rec.) b. Homo. rec.: 1/2 rec. x 1/2 rec. = 1/4 rec.-rec. c. Homo. dom.: 1/2 dom. x 1/2 dom. = 1/4 dom.-dom. 13. Given a Mendelian cross, use the rule of addition to calculate the probability that a
1 2 2 2 2 2 2

particular F individual will be heterozygous. a. Two ways to become heterozygous i. 1/2 dom. x 1/2 rec. = 1/4 dom.-rec. or ii. 1/2 rec. x 1/2 dom. = 1/4 rec.-dom. b. The combined probability is the two added together 14. Use the laws of probability to predict from a trihybrid cross between two individuals that are heterozygous for all three traits, what expected proportion of the offspring would be: a) homozygous for the three dominant traits, b) heterozygous for all three traits, and c) homozygous recessive for two specific traits and heterozygous for the third. a. For example: AaBbCc x AaBbCc b. Complete gametes: (1/8 ABC + 1/8 AbC + 1/8 aBC + 1/8 ABc. + 1/8 Abc + 1/8 aBc + 1/8 abC + 1/8 abc) c. Cases i. Case a: 1/8 ABC x 1/8 ABC = 1/64 AABBCC ii. Case b: 1/8 ABC x 1/8 abc + 1/8 abc x 1/8 ABC + 1/8 AbC x 1/8 aBc + 1/8 aBc x 1/8 AbC + 1/8 aBC x 1/8 Abc + 1/8 Abc x 1/8 aBC + 1/8 ABc x 1/8 abC + 1/8 abC x 1/8 ABc = 1/8 iii. Case c 1/8 abc x 1/8 abC + 1/8 abC x 1/8 abc + 1/8 aBc x 1/8 abc + 1/8 abc x 1/8 aBc + 1/8 Abc x 1/8 abc + 1/8 abc x 1/8 Abc = 3/32 15. Explain why Mendel was wise to use large sample sizes in his studies. a. more likely to be closer to the expected average Mendel discovered the particulate behavior of genes: a review
2 2

EXTENDING MENDELIAN GENETICS The relationship between genotype and phenotype is rarely simple 16. Give an example of incomplete dominance and explain why it is not evidence for the blending theory of inheritance. a. Red x white pink b. Pink x pink 1/4 red + 1/2 pink + 1/4 white c. White and red come back out in their original form in the expected ratios 17. Explain how the phenotypic expression of the heterozygote is affected by complete dominance, incomplete dominance, and co-dominance. a. Complete dominance: one allele completely hides another b. Incomplete dominance: heterozygous phenotype is intermediate c. Co-dominance: both alleles are expressed side-by-side in the heterozygote 18. Explain why Tay-Sachs is considered recessive at the organism level but codominant at the molecular level. a. Organism level i. Gene for hexosaminidase A i. Disease is recessive ii. Must be passed by both parents b. Biochemical level i. Co-dominant ii. Heterozygotes have half the amount of enzyme iii. that is enough enzyme to prevent the disease

19. Explain why genetic dominance does not mean that the dominant allele subdues a recessive allele. Illustrate your explanation with the use of the round versus wrinkled pea seed shape. a. Dominant round allele makes an enzyme that converts sugar to starch b. In the heterozygote there are enough enzymes 20. Explain why dominant alleles do not necessarily mean that the allele is more common in the population. Illustrate your explanation with the character polydactyl. a. Harmful and unusual dominants are selected against b. Polydactyl occurs in 1/400 birth 21. Describe the inheritance of the ABO blood system and explain why the I and I alleles are said to be co-dominant. a. Three alleles: I , I , and i b. Genotypes and phenotypes i. I I and I i give type A ii. I I and I i give type B iii. ii gives type O iv. I I gives type AB c. Both are expressed in type AB, both cover up the I allele 22. Define and give examples of pleiotropy and epistasis. a. Pleiotropy i. Most genes affect multiple phenotypes ii. Sickle-cell causes widespread tissue damage in addition to anemia b. Epistasis i. A combination of alleles at one locus affects expression at another ii. Example: coat color in Mus is overridden by albinism 23. Describe a simple model of polygenic inheritance and explain why most polygenic characters are described in quantitative terms. a. Many genes determine height, weight, and melanization b. Simplified example of melanization i. Three genes with two incompletely dominant alleles of each ii. Trihybrid cross gives six phenotypes in a normal distribution 24. Describe how environmental conditions can influence the phenotypic expression of a character. Explain what is meant by "a norm of reaction." a. Environment can have powerful effects on health especially b. There are simple examples like temperature sensitive genes c. "Norm of reaction" refers to the phenotypic range of a genotype depending on environment 25. Distinguish between the specific and broad interpretations of the terms "phenotype" and "genotype." a. Specific: outward expression of a specific combination of alleles b. Broad: total expression of all alleles
A B A B A A A B B B A B

MENDELIAN INHERITANCE IN HUMANS Intro 26. Explain why studies of human inheritance are not as easily conducted as Mendel's work with his peas. a. Negatives i. Slow to mature ii. Few offspring iii. No controlled breeding b. Positives i. Inherently interesting ii. BIG MONEY iii. Ultimate control Pedigree analysis reveals Mendelian patterns in human inheritance

27. Given a simple family pedigree, deduce the genotypes for some of the family members. a. Suggestions for analysis i. Consanguinity? rare recessive ii. All affected are males? sex-inked iii. Every affected has an affected parent? dominant b. Warning: often too little data to make definite conclusions Many human disorders follow Mendelian patterns of inheritance 28. Explain how a recessive lethal gene can be maintained in population. a. Heterozygote advantage b. Examples i. Sickle-cell carriers are immune to malaria ii. Cystic fibrosis carriers may be resistant to cholera and typhoid fever 29. Describe the inheritance and expression of cystic fibrosis, Tay-Sachs disease, and sickle-cell disease. a. CF i. Common autosomal recessive, half survive to 30 ii. Altered trans-membrane conductance regulator, a chloride channel iii. High extracellular chloride excess clogging mucus b. Tay-Sachs i. Autosomal recessive, lethal within a few years ii. Missing hexosaminidase, can't recycle a brain lipid iii. Severe neurodegeneration c. Sickle-cell i. Autosomal recessive, many successful new treatments ii. Point mutation in beta-hemoglobin, changes RBC shape iii. RBCs clog vessels and damage tissue 30. Explain why consanguinity increases the probability of homozygosity in offspring. a. Everyone carries harmful recessives b. Fortunately they are rare c. Consanguinity makes it more likely that the same harmful recessive will become homozygous 31. Explain why lethal dominant genes are much rarer than lethal recessive genes. a. Lethality is potent selection b. Death before reproduction removes the alleles from the population 32. Give an example of a late-acting lethal dominant gene in humans and explain how it can escape elimination. a. Huntington's disease i. Autosomal dominant ii. Severe neurological degeneration b. Manifests itself at 45 years old; usually after reproduction 33. Define and give examples of multifactorial disorders in humans. Explain what can currently be done to reduce the frequency of these diseases. a. Multifactorial = caused by genes and the environment b. Examples i. Heart disease, diabetes, cancer, some mental illnesses ii. Some are polygenic c. Family history indicates susceptibility; environmental factors are isolated Technology is providing new tools for genetic testing and counseling 34. Explain how carrier recognition, fetal testing, and newborn screening can be used in genetic screening and counseling. a. Carrier recognition i. Tests alert prospective parents ii. Preparations and strategies can be defined b. Fetal testing i. Ultrasound, amniocenetesis, chorionic villus sampling

ii. Risk of fetal death iii. Allows the choice of termination c. Newborn screening (NC List) i. Heel stick, drop on filter paper, mass spectrometry ii. Allows earliest treatment often with complete correction