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Genetics Study Guide - Exam 1

by: Smccarty

Genetics Study Guide - Exam 1 ABT 360

Marketplace > University of Kentucky > GENE - Genetics > ABT 360 > Genetics Study Guide Exam 1
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Cover lectures on: The Science of Genetics, Cellular Reproduction, Extension of Mendelism, The Chromosomal Basis of Mendelism
Dr. Bruce Webb
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This 10 page Study Guide was uploaded by Smccarty on Sunday October 2, 2016. The Study Guide belongs to ABT 360 at University of Kentucky taught by Dr. Bruce Webb in Fall 2016. Since its upload, it has received 9 views. For similar materials see Genetics in GENE - Genetics at University of Kentucky.

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Date Created: 10/02/16
Genetics Exam One Study Guide: Chapters 1-2,4-7 Chapter 1: The Science of Genetics Chapter 4: Extension of Mendelism  Three Milestones  Allelic Variation and Genetic Function  DNA as a Genetic Material  Gene Action: From Genotype to  Genetics and Evolution Phenotype  Levels of Genetic Analysis  Inbreeding: Another Look atPedigrees  Genetics in the World: Chapter 2: Cellular Reproduction  Cells and Chromosomes Chapter 5: The Chromosomal Basis of  Mitosis Mendelism  Meiosis  Chromosomes  Life Cycle of Some Model Genetic Organisms  The Chromosomes Theory of Heredity  Sex-Linked Chromosomes andSex Determination  Dosage Compensation of X-Linked Genes Genetics Exam One Study Guide: Chapters 1-2,4-7 Chapter 1/Lecture 1 Molecular Genetics – the replication, expression, and mutation of genes at the molecular level  Rooted in study of DNA sequences andmanipulation of DNA  Uses for molecular genetics: molecular biotechnology, marker-basedbreeded,etc. Watsonand Crick (The structure of DNA) - the nucleotides are chains linked through a sugar/phosphate interaction DNA helix Base pairs hold the chains together not covalently (A&T , G&C) The Human Genome Project:Sequencing DNA andCataloguing Genes - Whatis a Genome? o It is the collection of the DNA molecules that is characteristic of organism - Whatis Genomics? o It is the analysis ofDNAsequences thatmakeupa genome(computer sciences,robotics) - Whatis the Human Genome Project? o It determinedthe sequence ofnucleotides inthe DNAofthe humangenome Quantitative Population Genetics 1. People/Individuals within a population/community may carrydifferent alleles of genes 2. Population genetics is based on analyzing ALLELEfrequencies in the community and figuring whether these change over time…evolutionandthe inheritance oftraits 3. Uses of Quantitative Population Genetics: phylogeny, invasive species, and epidemiology a. Phylogeny is the evolution of a species i. Visible polymorphisms of the pepperedmoth b. Epidemiology is the study of the patterns, cause/effectsof healthand disease conditions in defined communities (big in the world of public health) Gregor Mendel – Plant Choice “The Garden Pea” 1. Grows easily and self fertilizes 2. Ability to cross-pollinate, remove anthers a. Askedthe question: How are traits inherited? What the Parentaleffects anddoes it matter genetically if the trait comes from the mother or the father? Diagram Below shows Mendel’s manipulations: Genetics Exam One Study Guide: Chapters 1-2,4-7 Mendel’s crosses:  Monohybrid Crosses o Parental(P) o Hybrid o First filial Gens (F1) o Second filial Gens (F2) o Backcrosses – hybrid with parent o ReciprocalCrosses test of sexlink  Dihybrid  Trihybrid  Testcrosses – ID recessive traits Results from the Monohybrid Cross: In ALL cases:1 parent trail disappeared in F1, but reappeared in the F2 gen In each of the 7 traits tracked there was a 3:1 ratio in the F2 (meaning there were less than 3 individual showing the trait found in the F1 gen to every 1 individual possessing the trait that was not observed in the F1 gen) The reciprocal crosses demonstrated similar patterns of inheritance Mendel Resulted with 3 Important Hypothesizes 1. Unit factorsin pairs (genes with alleles) – the alleles of a genes assortindependently 2. Dominance/Recessiveness – Alleles are dominant or recessive Genetics Exam One Study Guide: Chapters 1-2,4-7 3. Segregation – different alleles of a gene segregate fromeachother during the formation of gametes Terms to Know (Match them) Phenotype One containingidenticalalleles Gene The certain allelic orgeneticconstitutionoforganism Allele One containingdifferentalleles A piece of DNAthatcodesfor a particulargenetic product(AKA Genotype units of inheritance– Mendel’sunitfactors) Heterozygous physicalappearance ofa trait Homozygous Alternate forms of a single gene Chapter 3/Lecture 2 Test-Cross andMendel’s First Law – Genes come in pairs therefore eachof the parents have 2 copies of this gene (the “A” is smooth and the “a” is wrinkled) A a Parents produce gametes (with one copy of the gene) Fertilization produces an =number of A and a gametes which Aa fertilize at random to produce the F2 plants ¼ of the F2 generation are AA (smooth) and then ½ are Aa (whichdisplays the smooth phenotype) A a And ¼ are aa (wrinkled) A a Test Cross – To Test Hypothesizes Used to analyze the genotype of individuals exhibiting the dominant phenotype (homozygous or heterozygous) The species is crossedwith homozygous recessiveindividual  If the individual is homozygous dominant, all the offspring will be DOMINANT  If the individual is heterozygous, ½ the offspring will exhibit dominant and ½will show the recessive phenotype (figure below shows an example of the testcross) Genetics Exam One Study Guide: Chapters 1-2,4-7 Homozygous recessive F1 parent parent RrYy rryy ¼ rryy ¼ rrYy ¼ Rryy ¼ RrYy All ry Wrinkled, Wrinkled, Round, Round, Green Yellow Green Yellow Dihybrid Cross  Comes from Mendel’s curiosity of examining plants with two differentcharacters (two-factor cross)  Mendel’s 4 postulaIndependent Assortment  The fun of a Punnett Square  Mendel’s hypothesis explains a 9:3:3:1 ratio of the phenotypes in the secondgeneration Calculating Genetic Ratios AB Ab aB This is the number of different gametes ab possible is = to 2 (where n is the number of A genes being observed) B 1 gene, 2 alleles  A ora A 2 genes, 2 alleles  AB, ab, Ab, aB 3 genes, 2 alleles  ABC, abc,Abc, ABc, b AbC, aBC, abC, ABc a B a b Genetics Exam One Study Guide: Chapters 1-2,4-7 Product Rule  The probability of independentevents occurring together  is the product of the probabilities of the individual events  P(a and b) = P(a)x P(b) this is IF a and b are independent Sum Rule  The probability that either ofthe two mutually exclusive events occurring is the sumof their individual probabilities (????_????+????_????) o P(a orb)= ???? P(a) and P(not a) are mutually ???????? ???????? exclusive and they have all the o P(a orb)= ???? + ???? o P(a) + P(b) possible outcomes. Therefore: P(a or not a) = 1 = P(a) + (not a) Chi-Square Test: 2 P(not a) = 1 - P(a) 2 Observed Expected c =  Expected Whatyou will find: calculate the x2 statistic, determine the degree of freedom, and compare the x2 statistic to the critical value After Mendel’s Death:  CarlVon Nageli - Hawkweed  Devries – met Darwin became obsessedwith heredity rediscovered Mendel’s work – and rushed his own workinto Print without referencingMendel  Weisman –disproved pangenesis and Larmarckiantheories  Corren’s and von Trschermak-SeyseneggreplicatedMendels workin peas andmaize – then discovered Mendel’s paper whenhe Was writing up his work for publication  Bateson– through Devries discovered Mendeland became his champion – coined the term ‘Genetics Genetics Exam One Study Guide: Chapters 1-2,4-7 As a note: Pedigree Conventions Autosomal dominant inheritance – person with trait in eachgeneration (males and females will equally likely to show trait) - Where 1 parentis heterozygous, about 50% of the offspring show the trait (for example Huntington’s disease) Autosomal recessive inheritance – in this case,the trait may skip generations - Male and females are,again equally likely to show the trait - Heterozygotes (or the “carriers”) do notshow the trait, but 25% of the offspring of 2 carriers will show the trait (for example, cystic fibrosis) EXAMPLES: FIGURE IT OUT Dominant Or Recessive? Genetics Exam One Study Guide: Chapters 1-2,4-7 What happens when a mutation occurs? Mutation What affects Mendelian Ratio? g. The # of alleles a. X-linkage h. Degree of dominance b. Y-linkage i. Ploidy j. Pleiotropy c. Sex-limited traits d. Sex-influenced traits k. Pleiotropy e. Lethalalleles l. Penetrance f. Environmental sensitivity of alleles m. Epistasis All of the Above! Example: The White Locus in Drosophila There are over 100 alleles that can occupy the locus, i.e. eye color ranges Codominance  Two alleles produce two distinct and detectable gene products  In the heterozygote both are expressed equally and is termed codominance  An example of this is Blood types Genetics Exam One Study Guide: Chapters 1-2,4-7 ParentalBlood Types: Possible Genotypes: Possible Children Blood Types: Both A Both AA, AO A or O Both B Both BB, BO B or O Both AB Both AB A, B or AB Both O Both OO O One A & One B One AA, AO; One BB, BO A, B, AB or O One A & One O One AA, AO; One OO A or O One A & One AB One AA, AO; One AB A, B or AB One B & One O One BB, BO; One OO B or O One B & One AB One BB, BO; One AB A, B or AB One AB & One O One AB; One OO A or B Why are some alleles dominant vs recessive? - Loss-of-function mutations  What else is this kind of mutation called? - an inactivating mutation ( amorphic mutation in the Muller’s morphs schema) o This means that the allele encodes a protein that…..  Is NOTmade  Is NON-functional  Has a REDUCED function or  Homozygous wildtype  functional polypeptide  Homozygous mutant  no functional polypeptide  Heterozygote  one functional polypeptide (Leaky mutation) - Some loss-of-function mutations are dominate – e.g., they mayreduce the polypeptide (which remember a polypeptide, is an organic polymer of amino acids which makes up a protein chain) so that the wildtype phenotype cannot be produced Dominant Mutations: Dominant-negative mutations & Gain-of-Function mutations - Dominant-negative mutations: these are the mutations that interfere with the wild-type alleles— inhibit, antagonize, or limit the activity—of that specific wild-type allele o Think of the pigeons displaying (color coding phenotypes) - Gain-of-function mutation: allele encodes for the polypeptide that now has the new function— enhances—the function of the wild-type or cancause the wild-type to produce whenand physically where it should not o This will normally occur in dominant alleles - Over-dominant mutations: this occurs whenneither of the parentalstrains exhibit the phenotypes Important Term: pleiotropic - Pleiotropic has a major effecton many dominant mutations, i.e. Sickle-cell Anemia has pleiotropic effects ona lot of traits: Genetics Exam One Study Guide: Chapters 1-2,4-7 This is an example of over- dominant mutation SickleCellAnemia: ???? ???? ???????? ???????? = ???????????????????????? ???????????? ???? ???? ???????? ???????? = ???????????????????? (????????????????????) ???? ???? ???????? ???????? = ???????? ????????????????????????, ???????????? ???????????????????????????????????????? ???????????????????? ???????????? ???????????????????????? (NormalRBC and Sickle Shaped RBC) Variable Penetrance and Expressivity: This is phenotypic expression (for example: Variable penetrance—one or the other, variable expressivity—demonstrating a “mixed bag” of phenotypes, variable penetrance and expressivity—demonstrating both (all, none, or mix) of the phenotype This pedigree is an example of incomplete penetrance


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