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Genetics Final Study Guide

by: Lauran Notetaker

Genetics Final Study Guide BIOL/PBIO 3333

Marketplace > University of Oklahoma > Biology > BIOL/PBIO 3333 > Genetics Final Study Guide
Lauran Notetaker

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Final Study Guide
Dr. Jim Thompson
Study Guide
50 ?




Popular in Genetics

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This 14 page Study Guide was uploaded by Lauran Notetaker on Saturday May 14, 2016. The Study Guide belongs to BIOL/PBIO 3333 at University of Oklahoma taught by Dr. Jim Thompson in Winter 2016. Since its upload, it has received 15 views. For similar materials see Genetics in Biology at University of Oklahoma.


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Date Created: 05/14/16
 2n - to ensure each diploid have an exact copy of parent
 interphase - “between” division, chromosomes uncoiled, 46 chromosomes (23x2) 6ft uncoiled, 3ft in head of sperm
 Interphase - where most cells are located at any time, longest phase G0 - Can be temporary, special case, reflect nuclear state of cell that will not divide again Temporarily paused or terminally differentiated
 G phase - coding for proteins, cell can be stimulated to begin to divide (replicate DNA) G1- Gap 1 - (\)
 S - (DNA Synthesis) new copy (X) one chromosome (colored body) (X - sister chromatids)
 G2 - (X) chromosomes still replicated, but goes into subnuclear division Takes 18-24 hours
 G1- 9 hours (most variable) cells can stay in G1 long time doing their thing and not stimulating can stay a very long time S - 5 hours, replication G2 - 3 hours,
 mitotic phase - (cytokinesis and mitosis) 1 hour, nuclear division Meiosis
 haploid eggs and sperm Cell cycle
 G1 - S (check point) between G1 and synthesize
 stimulate: time, reached target size, signals (hormones), Need DNA molecules to synthesize correctly happens in...
 G2 - M (check point) - replication and repair - as accurate as possible Division Cycle
 Prophase - preparation phase (= the longest) Metaphase - chromosomes move to equator Anaphase - centromeres divide, and the number of chromosomes temporarily doubles Telophase - the reverse events from prophase; cytokinesis (cytoplasmic division occurs) Stages of mitosis Prophase
 - chromosomes begin to condense
 - nuclear membrane breaks down
 - spindle (a group of microtubules) is formed by centrioles Metaphase
 - chromosomes migrate to the middle of the cell **Look up kinetochore Anaphase
 (go from 8 through g1-g2 now anaphase has 16) - centromeres divide, and the two chromosomes (formerly = “sisterly chromatids”) begin to migrate to opposite poles of the cell Think pacman Telophase
 - mitotic spindle breaks down - nuclear membranes reform
 - the reverse events from prophase Cytokinesis - the cleavage of a cell by a contracting ring of microfilaments
 Plant cell division - by vesicles depositing cell wall material to form a new cell plate Interphase G1-\ \ 2n S-XX 2n G2-XX 2n Mitosis
 prophase - X X 2n metaphase - X anaphase- \\ X 2n \\ 2n Meiosis
 - the key is the events in prophase I - synapsis of homologous chromosomes this produces bivalents - a bivalent is two 2-stranded chromosomes paired closely together - This is the way a cell “tells” each kind of genetic information (linkage group) apart Doesn't go through prophase, metaphase, anaphase, telophase once, but twice synapsis - all four pairs of chromosomes bonded together 17 bivalent at prophase one Meiosis
 - The key events in prophase I - synapsis of homologous chromosomes - this produces bivalents A bivalent is two 2-stranded chromosomes paired closely together This is the way a cell “tells” each kind of genetic info (linkage group) For example, each cell has three bivalents 2n = 6 n = 3 At the end, each of the four cells has 3 chromosomes n = 3
 In Anaphase I sister chromatid are still together, haven't broken apart yet diploid to haploid in first mitotic division Prophase of Meiosis I
 Leptotena (Leptotene) - replicated chromosomes condense Zygotena (Zygotene) - synapsis begins
 Pachytena (Pachytene) - crossing over occurs
 Diplotena (Diplotene) - Chiasma is formed
 Diakinesis - Spindle is formed, nuclear membrane ends Leaping Zebras Pound Down Dunes Mitosis - yields 2 diploid cells (2n) Meiosis - yields gametes (n) Monohybrid Cross: mating between 2 individuals heterozygous at one gene locus - Ex.Rr x Rr
 - Dihybrid Cross: Both Parents are heterozygous at 2 different gene loci - Ex. TtDd x TtDd
 - Testcross: mating of individual with dominant phenotype to a homozygous recessive - Ex.R- x rr where R- could be Rr or rr Incomplete dominance 1:2:1 Probability = n! (p)^s (q)^t s! t! Key DNA Replication Enzymes (Prokaryote Model)
 1. helicase - causes unwinding of the double helix
 2. topoisomerase (e.g gyrase) - relaxes DNA super coil during DNA replications 3. Single-strand binding proteins
 4. DNA polymerase III (=pol III)
 5. Primase (as part of the primosome)
 6. DNA polymerase I (=pol I) -remove RNA primer -error correction function 7. Ligase transcription - produces an RNA copy of a gene
 mRNA - a temporary copy of a gene that contains info to make a polypeptide
 translation - produces a polypeptide using the info in mRNA
 polypeptide - becomes part of a functional protein that contributes to an organism’s traits Prokaryotes - no compartmentation Eukaryotes - nucleus/cytoplasm Promoter - RNA Polymerase attaches
 close to a gene’s initiation site Enhancer - Binds activator proteins
 retains function even when reversed or moved far from gene whose transcription it influences
 Intron: RNA that is part of the primary transcript which is removed from mature mRNA Exon: part of the primary transcript that remains in the mature mRNA Primary transcript contains both introns and eons introns must be removed Transcription - reads template strand from 3’ to 5’ to produce mRNA Translation - reads mRNA from 5’ to 3’ to produce polypeptides A = T (2 hydrogen bonds) C=G (3 hydrogen bonds) Histones = among the most highly conserved proteins in eukaryotes about 60 million copies of each type per cell acentric chromosome - one centromere dicentric chromosome - two centromeres Cri du Chat (french, cry of the cat) syndrome - a chromosome deletion syndrome - collection of symptoms that correlate together for a specific disease Pericentric inversion - different chromosome arms, centromere is included in inversion Paracentric inversion - Same chromosome arm
 acentric - no centromere, will get lost during meiosis Homozygous - cell isn't going to be effected at all Heterozygous - form a loop translocation heterozygote - has to include chromosomes from 2 linkage groups Non-disjunction (double negative) - coming together in division one 2 (n+1), 2 (n-1)
 in division two 1 (n+1), 1 (n-1), 2 (n) 2n-1 monosomic 2n+1 trisomy Down Syndrome Etiologies
 *Flat facial profile, small nose, epicentral folds of the eyelid, varying degrees of mental retardation frequency = 1/600 newborns More frequent in mothers who are older Pataus Syndrome
 Trisomy 13 - Three copies of chromosome 13, cleft lip, cleft palette, severe mental retardation Edward Syndrome
 Trisomy 18 - severe growth deficiency, mental retardation, congenital heart disease, etc. XO 2n=45 monosomic for the X chromosome Turner syndrome XO
 2n = 45 monosomic for the X chromosome
 Etiology: usually from nondisjunction in the father Barr Bodies
 a means for dosage compensation
 To “equalize” the number of active X chromosomes in males and females Kleinfelters Syndrome XXXXY XXY
 “theta mode” of replication Transformation Conjunction The F factor - Conjunction by a specialized plasmid in the donor cell Hfr = High frequency recombination F-factor (plasmid) physically incorporated by crossing over Transformation - lysis of donor cell releases DNA into environment the Donor DNA is taken up by the recipient cell Conjugation - Donor DNA is transferred directly through a connecting tube. Contact and transfer are promoted by a specialized plasmid in the donor cell The specialized plasmid in the donor cell is The F factor Transduction - Bacteriophage infects the donor cell lysis of donor cell. Donor DNA is packaged in released bacteriophage. Donor DNA is transferred when phage particle infects recipient cell. F’ (“F-prime”) factor is an F factor that been excised from the Hfr chromosome but now carries a section of the bacterial chromosome with it Transduction = transfer of bacterial DNA from one cell (donor) to another by way of a virus Specialized transduction: restricted to certain genes Generalized transduction:
 some viruses can insert anywhere    Co-transduction - carriage of two or more bacterial genes by a virus Co-transformation -
 Co-sex-duction - carriage of genes to a cell by an F factor Polyploid species: number of complete chromosome sets > 2 -auto(“self”)polyploids: contain multiples of the same chromosome set (same species) allo(“other”)polyploids: contain multiples of different chromosome sets (different species) Amphidiploids = nonidentical chromosome sets are doubled in allopolyploid endosymbiont theory: organelles represent remnants of free-living organism that established symbiotic relationship with proto-eukaryotes Origin of Organelle Genomes and Non-Nuclear Inheritance
 inheritance of organelle genetic information is often uniparental, usually maternal Mechanism of inheritance will therefore be non- Mendelian, often only through egg cytoplasm (ex. MERRF - abnormality in the mitochondria)
 Coiling in gastropods: left coil - sinistral right coil - dextral embryo: alpha2Gamma2Epsilon fetus: alpha2Gamma2
 adult: alpha2Beta2 fertilization to morula to blastula to gastrula to neurulation Ectoderm epidermis of skin
 hair and nails
 entire nervous system lens of the eye, etc. Endoderm
 lining of the digestive tract gastrula     lining of the respiratory system - trachea, brooch, lungs liver
 lining of the gall bladder urinary bladder Mesoderm - “meso” = “middle”
 muscles - smooth, cardiac, and skeletal connective tissue - bone and cartilage blood and blood vessels
 dermis and the skin
 ovaries and testes Totipotency - the ability of a nucleus to code for normal development of a new individual with all its varied cell types morphogen = conveys positional information and promotes developmental changes Alternate splicing
 Short transcript - protein is secreted intron not spliced out
 long transcript - with additional hydrophobic amino acids, protein is membrane-bound Aa x Aa 1/4 : 2/4 : 1/4 p^2 + 2pq + q^2 = 1 p = frequency of “A” q = frequency of “a” Assumptions
 Sexual reproduction Diploid
 No selection
 Mating is at random (panmixis)
 Population size is large (mathematically infinite) No migration
 No mutation Sample question: For a certain trait, 1/10,000 newborns shows a certain recessive trait. What is the frequency of heterozygous carriers in that population? aa = q^2 = 1/10,000 or 0.0001 q = sqrt of 0.0001 since p + q = 1
 p = 1-q = 1 - 0.01 = .99 so freq of 2pq Sample question:
 For a trait of interest, 64% show the dominant (H). What proportion of these are actually homozygous (HH)? HH Hh hh
 1 - 0.64 = 0.36 hh = 0.36 = q^2 q = 0.6 p = 1 - 0.6 = 0.4
 freq of HH = p^2 = (0.4)^2 = 0.16 Special cases: Sex-linkage Frequency in females:
 Since there are two X chromosomes, the genotype and allele frequencies are determined just as we have done for autosomal traits AAAa aa p^2 2pq q^2 But, males have only one X, so Freq of A = p a=q Sample question: Imagine that an island is settled by a population of 100 people with the following blood types for the locus: M 68 + 58 58 +16 N What are the allele frequencies in this population? MM 34 MN 58 NN 8 total
 100 (200 alleles) p = freq of M = 2(34) + 58 = 0.63 200
 N = 2(8) + 58 = 0.37 200   After at least one generation of random mating, when the population reaches 2000 people, how many will be homozygous “MM”? since p = freq of M = 0.63
 then MM = p^2 = (0.63)^2 = 0.3969 out of 2000 people we expect 0.3969 (2000) = 793.8 Cystic fibrosis ( c c ) affects about 1/1600 newborns q^2 = 1/1600 = q = 1/40
 p - 1/40 = 39/40
 2pq = 2(39/40)(1/40) ~1/20 non-random mating
 Positive assortative mating - like mating with like
 - Increase homozygosity for genes on which mate choice is based - or genes linked to them Negative assortative mating - mating with unlike - increase heterozygosity for genes on which mate choice is based Inbreeding - Increase homozygosity for entire genome recipient population (r) q’r = qr (1-m) + qm (m) = qr - mqr + mqm Deltaq = q’r - qr
 = qr - mqr +mgm - qr = m(qm-qr) Stabilizing selection
 does not change average trait expression reduces phenotypic variance Directional selection
 changes average trait expression
 has only temporary effects on the variance in expression Disruptive or D


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