Genetics Review PDF

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 1 iSom " Germanenheritance AKA Mendelian SOME evKamotS Types of Genetics : Classical + Molecular + Population/ Quantitative Pre-Modern Concepts of Genetics : homunculus believers of each 7 Preformation Genetics based only 1 parent s thought Ovists/Spermists homunculus Sperm/egg > were on in > Disproved : Francis Galtons inserted white rabbit blood into black rabbit-rabbit was still black 2. Pangenesis (pargene + gemmule) > genetics are inherited from gemmules , If you build muscle the muscle is passed down Disproved : August Weissman > 2 rats wl cut tails still produced rat we fail 3 Inheritance of AcquiredCharacteristics > traits gained by organism passed down to offspring 4 Blending Inheritance ~ off spring's traits are a mix blu 2 diff traits of parents blended together Germ-Plasm/Particulate : fertilization Gametes : Zygote : Development Difference Blu Pangenesis + Germ-Plasm : Pangenesis : DNA comes from All body parts Particulate : DNA comes from ONLY reproductive organs Probability Simple : Fordesiredoutinea Combined : Rule of Multiplication + Rule of Addition + Independent/Mutually Exclusive Events Independent Events "and" Rule of multiplication : product of individual probabilities ** I + =4 + MutuallyExclusiveEventeitherAbilities 2 z + = 1 Binomial Probabilities : xi"g7 n= # of events p = probability of eventf can't be same y= probabilit- e x + 2n y = Example : probability of acceptance 30 % 15 students , only 2 get in (0(0 S. = 0. 3125 = 31 2%.  2 Goodness Fit Test : Chi squareTest observed Expected Tails 45 50 Heads 55 50 Total 100 700 " Globserved-expected in - 10 e Degree of Freedom : Eguation 1 = _ n - Ho : null hypothesis : no significant difference - p > 0. 0S : not statistically significant deviation Ha : alternative hypothesis:significant difference - ↑10. 05 : statistically significant deviation Reproduction Sexual Reproduction : genetic contribution from 2 individuals offspring genetically distinct Asexual Reproduction : genetic contribution from 1 individual a offspring genetically clones (not distinct Particulate Genetics : 1 Prokaryotic Binary Fission - Bacteria + Archaea + Mitochondria + Chloroplast 2 mitosis eukaryotic - 3 Meiosis - Chromosomes : DNA + Proteins Eukaryotes : Multiple + Linear + Histones Prokamotes : Singular + Circular + non-histone proteins Ploidy : Sets of chromosomes (N) Isister chromatids Itaploid : IN or N Diploid : 2N & single &chromosome Triploid : 3N Eukaryotic DNA : entic michmans dont a (Homologs Homologous Chromosomes : hold same gene order T maternal + paternal Homozygous : A'A' Locus : position of gene on chromosome Heterozygous : At Gene : DNA that codes for RNA segment Allele : Alternative forms of genes  3 Prokaryotic Binary Fission : ~20-30 min Form of a sexual reproduction Prokaryotic Chromosome :Genophore Eukaryotic Cell Cycle : Growth Phase I Gi : Normally metabolizing cell Synthesis Phase S : DNA replication Growth Phase I t G2 : Division Preparation Mitosis/Cytokinesis Phase M : Prophase , Prometaphase metaphase , , Anaphase Telophase Cytokinesis , , Transient/PermanentPhase Go : Don't divide-stationary cells > mitosis not possible Cohesins hold DNA together during replication G, is the rata for cell division limiting step chromosome Dyad formed " at 92 > - Kinetochore on either side of duad , 1 per DNA molecule # Hayflick Limit : max of divisions before Senescence/death induceable Apoptosis : programmed cell death Aster : anchor centrosomes during mitosis> Astral microtubules Gamates do NOT undergo mitosis : undergo meiosis instead Mitosis : Kinetochore is PART Centromere OF Prophase : chromosomes condense , centricles at opposite poles : spindle formation begins : consing br Sister chromatics break down Prometaphase : nuclear envelope dissolution - spindle attaches to chromosomal kinetochores > line breaks cohesins Metaphase Dyads : at equatorial plane in inhibits a dissolved destroys conering securin separate APC Anaphase Promoting Factor : where degraded Anaphase sister chromatids held together - > in Anaphase A: Sister chromatids in dyad separates depolymerization a cohesins hold chromatid at centromere : Anaphase B : Poles m o re apart interpolar spindles slide past each o t h e rs each chromosome now 7 DNA molecule spindlebreaks down reforms around Telophase : chromosomes at opposite endsa > nuclear envelope each pole of chromosomes - form cell plate division + Cytokinesis clearage furrow squeeze vesicles form for cell wall-having cells : : - 1 Equal Cytokinesis daughter cells equal volume : > Unequal Cytokinesis : daughter call higher volume Spindles : X-Tubulin + B-Tubulin microtubules - spindles do equatorial line up (shortening + lengthening Kinesins Push spindles to Dyneins Pull spindle back to centrosome equatorial : : > Spindles that are associated w/ Kinetochore : - Rinetochore Spindles interpolar spindles > AKA > Polar Spindles : extend from Kinetochore Spindles to opposite poles > don't connect to chromosomes Indirectly interact w/ Centromeres  4 Terminal Process Meiosis sexual reproduction Different species. Different # of chromosomes Germs Sperm : + eggs > 46 chromosomes > Gamete : 23 chromosomes - Gonads : testes + ovaries produce Germs · ↑ gametes per meiosis cyple Germ Cell of germ cells can undergomitosis : property dyads Gn 46:STARTS W/REPLICATED CHRUMOSOMES (46 instead of 23) 46DNA of Synapsis : Union Differentiation homologs - tetrads 40 azDNA dyads together - meiosis T 2 - (Reduction Division) dyads 23 4NA3 _ Half the Starting Germ cell D N A Gametes meiosis #I - I Avera 23 DNA (likemitosis) single chromatids 23 23 23 23 23 DNA Chromosome + DNA counts : Ploidy : Haploid N Diploid IN. 1 1 Tripod 46C : R6DNA : cell. 46C 2 : 92DNA : 1 cell. 3 23C : 46 DNA : 2 cells 4. 23C > 23 DNA : 4 cells · no Dra replicated during interkinesis Meiosis I : PIMI AlTI Interkinesis Meiosis # : 4 I MI All T I Cytokinesis meiosis [ : Reduction division - 1 cell : 46 chromosomes to 2 cells : 23 chromosomes each Prophase I : chromosomes condense , centrioles opposite poles / nuclear envelope dissolution + spindles attach to kinetochores line Metaphase I : Homologs line up at equatorial /metaphase plate ~ protected by shugoshins Anaphase breakdown (not I : Homologs separate > cohesins cohesins at centromeres ends chromatids still Telophase I Dyads : at opposite , Sister joined together reason why siblings a re different Prophase I Chiasma/Chiasmata : points where homologs exchange genetic recombination : "Crossing Over" - Other factors in " GeneticDiversity : 1. Random Fertilization. 2 Independent Assortment  5 Sperm formation Spermatogenesis : 46 Aundergo equal cytokinesis spermatogonium Chemical Stimulation Differentiation - + ALL primary spermatocyte 46 ALL L - - · in 23 23 secondary spermatocytes ALL spermatids 3 in · 4 sperm · Differentiation eg formation Oogenesis : Orgonium 46 [ ChemicalS timulation + Differentiation To primary Oocyte L Unequal cytokinesis Polar Body ~ 23 Secondary Oocyte 3 S unequals I · equal cytokinesis cytokinesis 3 polar bodies Outid nonfunctional technically 4 gametes but 1 produced Oogenesis cycle gametes only - egg per Genetics Research Rsum Sativum Model Organisms : Mendel used Common Garden Pea , we mustly use E Coli. 1 short generation time 2 many offspring. 3 Easy to identify traits ↑ Easy to keep + inexpensive 5 Sexually reproducing  6 Genetic Breeding Alleles : same genes but different version s alternative region interchangeable Loi : position of a gene on a chromosomes where an allele is found Monohybrid Cross : examining I trait across generations Dihybrid Cross : examining 2 traits across generations Trihybrid Cross : examining 3 traits across generations Monohybrid Tt Ratios Genotype-Phenotype : T = dominant : Tal TTTTt t = recessive : SHORT - It tt Phenotype : 3 : 1 : 3 TT/Tt + 14 > Genotype : 1 : 2 : 1 > TT + 25t + it Dihybrid TP Tp +P + p Ratios Genotype-Phenotype : TP IT T PPPP LofIndependent Assortment TTPPTTP TPP T, Tp TTPpTTpp TtPp Ttpp 2: : : I +P TtPPTtPpHPP ttPp It Combinations : Tall + Purple , Tall + White Short + Purple short-white , , ~ tp TtPpTtpp HPp ttpp 9 i Phenotype : 3 3 : 1 Leight Color Monohybrid Conti TT ++ P Tell x Shor t sphenotype Fi 100 % Tell 4/4 ~ F2 Tal + 25% S o Mendel's First Law : AkA Law of Segregation Gamete formation results in passing down (indepently) of only (allele from a parent > ex : If parent has it < gamete only gets or the other (random) Mendel's Laws' Violations : 1st Law Violation - Nondisjunction > chromatids fail to separate 2"Law Violation-Linkage independent assortment doesn't work b l 2 close genes inherited together gene for tall + gune for blue close to each other s both fall+ blue inherited  7 Dominance Relationships at a single locus > Based on F y phenotype from parental crosses Types of Dominance Relationships : Codominance Complete + Incomplete + > Basically like monohybrid cross from before (simple) Complete Dominance : F , has dominant allele > expresses dominant phenotype #2 ratios : Genotypia-1 : 2 : 1 Phenotypic-3 : 1 RR Rv rv Incomplete Dominance : Literally blend of both traits Ratios : Genotype-1 : 2 : 1 - both traits expressed through an intermediate blend Phenotype- 1 : 2 : T bine pink red dominant red recessive blue purple flower - > ex : + Codominance : both traits expressed FULLY dominant red recessive flower wh both blue red Ao Bo blue patches combinations ~ ~ ex : + + > + + don't get expressedainant > n(n + 1) 'n = of 3 for 313 = G combinations to 0 Alo blood equation alleles phenotypic , : 2 groups 2 , = finds theoretical # of phenotypic combinations Codominance for ABO Blood Groups : · cntigens by adding sugars (glycans) modify code for Antigen : Create Antibodies - genes glycosyltransferases +B A ans i s baseciensarddedbuaucosyltransfera to make + 0 + B H Antigen + Galactose Antigen Antibody Generation : Antigen As Antibody B Antigen B : Antibody A > No antigen Antigenc : Antibody A + B Antigen AB > No Antibody Universal Acceptor : AB Universal Donator : O  & Alleles + Loci Penetrance proportion of specific : individuals w l trait caused by environmental effects or epistasis : masks another gene one gene Common in humans to have incomplete penetrance Equation for True Probability : Penetrance offspring Expressivity the extent that trait expressed in individual intensity of : a is an expression can occur simultaneously wh incomplete penetrance alleles multiple Epistasis : multiple loci for 1 single traits/allele masks another s not every allele expressed Certain traits mask others due multiple loci multiple alleles ~ to < Hypostatic Loci : gets masked Epistatic Loci : does masking 12 : 3 : Dominant allele dominates when hetero/homo dominant Epistasis : 9 : 3 : 4 Recessive Epistasis : allele dominates when homo recessive H Antigen : HH - most people instead of HH th Recessive Epistasis # Antigen Loci : or , when HAntigen is hh , Bombay 0 : prevents #Antigen formation , t h e re fo re masks ABO Blood Groups can only donate to other Bombay O Pleiotropy : 1 locus/allele wr multiple effects < ex : Sickle Cell Anemia (ss) - effects multiple things like Kidney + liver + brain Lethal Alleles : cause death to organism Recessive : Agouti (mice) > yellow coat cele lethal Dominant : Huntington's Late in life Conditional : Glucose6 Phosphate Dehydrogenase Deficiency , environmental factors (forinism , medication , etz)  9 Sex + Non-Sex Linked Autosomal Genes : the 22 pairs of chromosomes that a re NOT Sex linked Can be tested for by using a reciprocal cross Frequency of traits equal for male + female Sex-Linked Genes sex chromosomes : genes on > phenotype Sex Determination : GENERALLY : male-small gametes , female-large gametes Species w/ multiple sexes can exist < ex : Slime mold Mechanisms : no distinct sex chromosomes - T Genic System > male + female Kamotypes don't differ s plants + protozoans s have male OR female GONADS based environment does not difere can change sex on 2 Environmanotype > sex determined by particular environmental factors , Sequential hermaphrodium in limpets Position Dependent : limpets change sex based on other individuals Parasite Induced" Walbachia turn male Pillbugs into female Temperature Changes : fortles + alligators eggs : more male or female at certain temperature 3 chromosomal for located specific female genels) Kamyotype varies > sex type chromosomes blu male + > on Heterogametic s 2 diff sex genes Homogametic : I same sex genes Sex Determing S exs ALWAYS Heterogametic Sex Determining Systems : XO system : m 2 W System m 2 : : Haploid-Diploid System haploidon a : : m SRY Gene : short or y for maleness expression of 7 (testes gene on arm Block's expression of X : produce ovaries/estrogen Dosage Compensation equal : expression of genes from sex chromosomes Humans : Suppression Cheterochromitization) of 1 X chromosome in wo m e n Disabled X chromosome is called a Barr Body X Linked : only on X chromosome Y Linked : only on Y chromosome Hemophilia Type A : Hh > 90 % male > X Linked Recessive Recessive : X"X" + xhY  10 Hemizygous : makes only have 1 copy of a gene males more likely to show X-Linked Recessive than females Habitrs : medical term for phenotype Sterile - Androgen Insensitivity Syndrome : X-Linked Recessive xy + x + x xhy + + x x x+ y X x-xxxxy Sex Limited + Sex Influenced Trait Sex-Limited : only 1 sex (100 % penetrance) > testes Sex-Influenced : expressed in both penetrance differs V MPB mitochondrial Maternal Inheritance : phenotype from mother mtDNA : mitochondria + chloroplasts Similar Autosomal + Nuclear Maternal Effect of determines genotype : mother phenotype Quantitative Inheritance : many lociI traits additive (no block Height skin color A A B' B C + 22 ABC Ai Argic' + weight + + + + : Genomic Imprinting : phenotype based on parent w/gene Pradebese 1 del Dad CIS smiling Angelman ~ del Mom CIS Anticipation penetrance : increases gen to ge trinucleotide repeats > Huntington (CAG)  71 Pedigrees Maternal Inheritance : All children of affected mother affected 1-Linked : exclusively father to son X-Linked Dominant : exclusively father to daughter aff X- Linked Recessive : mother to son NOT to daughter> father to daughter (carrier ( Autosomal Recessive : skips gen > inbreeding expression : usually unaffected parents Autosomal Dominant : doesn't skipgen : atleast I effected parent EXAM 2 : D Bacterial GeneTransfer 1 Horizontal GeneTransmission ALL plasmids are double stranded DNA Homologous Recombination : recomb/r 2 SIMILAR or Identical DNA Celito cell (CTC) not necessary "Transformation : competent bacterial cell uptakes DNA from environment where other bacterial cell was Lysed + DNA was released ~ competent fulfill both Not all SPECIES transform ; of species that CAN have the bacterial can out not all ability to > similar to host W but transformation is of homologous DNA usually cic required > Sexpilus AKA Conjugation pilus for transfer of DNA Plasmid dsDNA Conjugation tube connection blu cells allows chromosomal Dut in many prok : 2 : extra + some unicellenk contains fertility plasmid F F + F Conjugation : to #+ fertility Plasmid + No genetic transformation occurs : just makes F- into F by transferring bond senzyme cuts phosphodiester Mechanism backbone of plasmid cut < /strand of the dsDNA travels through pilus to the F complementary strand synthesized sugar the - : > Dexamg No recombination occurs bkc no homologous DrA to crossover Variant Process : Resistance Plasmid (R) also transferred same + happens w/ F Conjugation IF the plasmids are linked way disables > Protein produced by Rplasmid protects antibiotics target + binds to antibiotic >transport protein moves antibiotic out of bacterial cell b HighFrequencyRecombinationeount of Recombination exam or finaly (F + 1 Hfr Donor Cell to F-recipient cell Hf Stays Hfr F- stays F - + J Mechanism : Hir plasmid incorporates into Her cellgenophore > /strand of genophoredsDNA cuts transferred to F- · though , entire donor DuA NOT sent over ; cuts somewhere prematurely of Recipient DNA + HfrDonor Dut have lot recombination F'CoSexduction + to F- Essentially : Fconjugation wh Recombination becomes partially diploidsmerozygote ~ Mechanism : F'plasmid into Genophore > F'plasmid leaves wl both fertility gene + some donor genes (incorporates into F-genophore + F Still becomes F > Recombination may occur in F- & Transduction : Viral vector (plasmid Carrier) - mostly prok but some evk Retrovirus : have reverse transcriptase Like FI > Viruses : probably evolved from episomes (reversibly binding free genetic material Envelope : Protection + Attachment > fully formed viral particle : Vin host specificity ~ Viruses high t h e virious > Longer they wait the m o re of proteins Lytic : Vivulent Lysogenic : temperate Plague : cluster cause cell > lysis prion pSheet Ibrain rot) X-helices Prions : infective proteins like spongiform encephalopathies PrP : normal cell folded is PrP A Generalized Transduction : Any DrA fragment from host to recipient > Virulent or Temperate (Lytic or Lysogenic b specific Specialized Transduction : only But adjacent to insertion site is Kysogenic transferred temperate  Chromosome Variation origin of Replication at telomere + centromere 2 10 % 90 % telomeres middle Eukaryotic Chromosome center + : heterochromatin > - : euchromation DuA"most compressed in Metaphase ribosome synthesis nucleolus > Both constitutive + facBarbd Centers human I > Nucleolar Organizing LINE Types : Mettacentricsub-metacentric Acrocent 4 telocentric Satellites don't loosen "loosensbased on cell cycle 5 ~ 4 6 1 8 9 10 59 2 vie , , ,. , 1 3 10 ,. 20 , 1 , 74 , 75 22 22 4. , , , 77 , 12 , 77 , 78. X , , , All dyads Human Listed (22) Kanyotype largest : (71 to smallest -excludes X. Banding Patterns : BPF most common [Davv) Banding : Giemsa stain reveals AT richa re a s sheterochromatin : m o reu (Dark) of RBanding Banding Stains C+ a reverse : rich creas , echromatin : : more scarcinogenic bla Q V colors hatePadmatin Banding guiracrine mustard : stain + Location of Ideogram : genes on chromosome chromosome > which arm 13912 which. 2 13g 11. 2 band (gene location) Easy proliferation WBSC + Cheek a re best Preparation of metaphase required< any Symphocytes best Karyotype type : cells in cell Idestroys spindles ( > Colchicine : chemical used to stop cell division at metaphase Mutations chromosomal- canchange parts of chromosome or entire chromosome Somatic : any cell that isn't sperm/egg Germ-Line Sperm/egg loogonic spermatogonial : + of Mutations Types : Point Mutation : individual base pair change b i) Aneuploidy Chromosomal : "Realividachromosome ziphas Rearrangements : a Balanced : Normal Unbalanced :