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Genetics

Final Exam

QuestionAnswer
DNA-deoxyribonucleic acid Double stranded anti-parallel molecule, Measure in base pairs (bp) or kilobase pairs (Kb),Humans have 3 billion base pairs,Encodes genes
Chromosomes Genes are located on chromosome
Human chromosomes 46 chromosomes 23 homologous pairs, 22 autosomes, 1 pair sex chromosomes
Genetic fields Transmission genetics, molecule genetics, population genetics
Model organisms Fruit fly, E coli, roundworm, cress plant, mouse, and bakers yeast
Prokaryotes No nuclear envelope, genomic DNA is circular, plasmids are extra chromosomal circular autonomously replicating DNA
Eukaryotes Nuclear envelope, genomic DNA is linear, mitochondrial or chloroplast DNA is prokaryotic like and provides maternal or cytoplasmic inheritance
Alleles Alternate form of the same gene
Doninant Homozygous 2 identical alleles, expressed when pressent
Recessive Masked by dominant observed only in the homozygote state
Homozygous Two allels of the same form
Heterozygous One fuctional allele null mutation dosage compensation same number of x linked transcripts for both
Genotype Genetic makeup AA Aa or aa
Homologous pair Identical in structure similar in content
Phenotype Physical characteristics
Brown hair Genotype AA or Aa
Blonde hair Genotype aa
Phenotype = genotype + enviroment
Diploid 2n 2 sets of chromosomal types two sets of 23 chromosomes or 23 homologous pairs in humans
Haploid One set of chromosomes could be a natural state for some species or it could be the amound ot genetic material present in gametes
Prolaryotic cell division Involves the replication of the prokaryotic genome followed by division of the cell
Eukaryotic cell division Requires replication of the DNA during S phase of the cell cycle and division during M phase
In order to safely divide the cell the DNA must be packages into tightly packages sturctures called chromosomes
G1 (1) Cell grows -interphase
G0 (2) is a non dividing phase
G1/S check point (3) cell is commited to dividing -interphase
S (4) duplicated -interphase
G2 (5) cell prepases for mitosis -interphase
G2/M checkpoint (6) cell can divide
Mitosis and Cytokinesis (7) take place in M phase
M phase nuclear and cell division *between interphase and prophase)
Interphase cell growth (G1 S and G2)
Prophase of cell division chromosomes condense and mitotic spindle forms
Promethaphase of cell division Nuclear envelope disintegrates and spindle microtubules anchor to kinetochores
Metaphase of cell division Chromosomes align on the spindle assembly checkpoint
Anaphase of cell division Sister chromatids separate becoming individual chromosomes that migrate toward spindle poles
Telophase of cell division Chrosmosomes arrive at spindle poles the nuclear envelope reforms and the condensed chromsomes relax
Cytokinesis of cell division cytoplam divides cell wall forms in plant cells
Interpahse DNA packaging to prevent shearing forces from damaging the DNA helps regulation of gene expression
Cell division DNA packaging DNA is tightly packaged to precent damage during chromsomal movements
Chromtin Beads on a string Sting = DNA Beads -histone octamer
Nucleosome Packaging DNA wrapped 2 times around histone octamer linker DNA links nucleosomes
30nm fiber Solenoids step 1 cell division
Solenoid formations Histone H1 acts as a latch to latch 2 adjacent nucleosomes together (slinky)
Step two packaging during cell division Chromatid anc chromosome formations
Chromosomes Metacentric, very submetacentric, acrocentric, telocentric
Metacentric chromosome centrally located centromere
Very submetacentric diplaced centromere (toward top)
Acrocentric Extremely short p arem in relations to q arm
Telocentric the centromere is just below telomere not found in humans only rodents
Ploidy the number of sets of chromosomes that are present
Euploids... have complete ploidys
Haploid ploidy n is a normal state for these organisms or for gametes
Diploid ploidy is 2n for humans 2 x 23 types of chromosomes or 46 chromosomes
Monoploid ploidy n abnormal state
Triploid ploidy 3n can be normal for some plants abnormal for humans
Tetraploid ploidy 4n can be normal for some amphobia and plants abnormal for humans
Aneuploids do not have true ploidy
Mitosis process by which a diploid somatic cell 2n will give rise to 2 diploid somatic 2n cells - cloning of somatic cells (line up in center of cell and sister chromatids divide into daughter cells)
Meiosis process by which a diploid gametocyte gives rise to 4 haploid daughter cells
Meiosis I the homologous pairs separate creating haploid daughter cells - reduction division in which the number of chromosomes are reduced
Meiosis II is identical to mitosis except cell was haploid
Prophase Mitosis Centroles divide and separate, nuclear envelope begins to breakdown, nucleolus disappears, chromsomes start to condense and nucleus looks like a ball of yarn
Metaphase Mitosis Nuclear envelope compelty gone, centrioles 180 apart, chromosomes most condensed state, spindle fibers connect centriole to centromere, chromsomse lined up on metaphase plate
Anaphase Mitosis Sister chromatids separate
Telophase Mitosis Nuclear envelope begins to reform, nucleolus reappears, cleavage furrow forms, chromosomes decondense, centriole will end up in separate daughter cells ends with two diploid cells
Interkinesis a brief period between meiotic divisions the cell appears to be in interphase
Prophase I Nuclear envelope begins to breakdown, nucleolus diappears, centrioles divide and separate, chromosomes begin to condense, chromosome under go synapsis which is a pairing process, crossover events occur
Synapsis Pairing process by which homologous chromosomes come together forms synaptonemeal complex
Synaptonemeal complex forms during synapsis to fuse homologous chromosomes together
Metaphase I Nuclear envelope completely gone, homologous pairs are lined up on the metaphase plate, centioles and centromeres are connected through spindle fibers, centrioles are 180 apart
Anaphase I homologous chromosomes separate
Telophase I cleavage furrow forms, nuclear envelope reforms, nucleolus reappears, chromsomse decondense, end of telophase I an d2 haploid cells
Prophase II chromosomes condense, the spindle forms, and the nuclear envelope disintergrate
Metatphase II individual chromsomes line up on the metaphase plate
Anaphase II sister chromatids separate and move as individual chromsomes toward the spindle poles
Telophase II chromsomse arrive at the spindle poles, the spindle breaks down and a nuclear envelope re forms
Cytokinesis II the cytoplasm divides
: A skin cell in G2 has twice as much DNA and twice as many chromosomes as what other stages of meiosis or mitosis? a secondary gametocyte in Telophase I and in Prophase II
Spermatogenesis is the production of 4 mature sperm cells from each primary spermatocyte. The primary and secondary spermatocytes underwent equal karyokinesis and equal cytokinesis.
Oogenesis is the production of one mature egg sell (ovum) from each primary oocyte. The primary and secondary oocytes underwent equal karyokinesis but unequal cytokinesis. Leaving one large egg cell.
Principle of segregation says that the alleles for a given gene are inherited separately
Principle of independent assortment basically says that the alleles of genes on different chromosomes will be inherited independently from each other
Homogametic sex XX
Heterogametic sex XY
SRY gene on the y chromosome causes testes to form which produce testerone
Fruit fly small size, short generation of 10 days, lays 400 eggs, easy to culture, small genome, large chromsomes
Dosage compensation a mechanism by which species compensate for the differences between the sexes
Lethal any allele that can cause the premature death of the organism. It can be due to a dominant or recessive allele. Death can occur at any stage of development from fertilization to relatively old age
Incomplete Dominance the expression of one allele does not completely mask the expression of the second allele
Co-Dominance phenotype of the heterozygote includes the phenotypes of both homozygotes
Expressivity the degree to which individuals with a particular genotype demonstrate that genotype
Penetrance the number of individuals who have a particular genotype demonstrating that genotype
Epistatsis many genes influences one characteristic
Pleiotropy one gene influences many characteristics
Complete Dominance is when one allele is expressed when present and the other allele is only observed in the homozygote recessive state
Incomplete Dominance Phenotype of the heterozygote is intermediate between the phenotypes of the two homozygotes
Epistasis when many genes influence one characteristic
Linkage the genes are located on the same chromosomes, they will segregate but are not independent from eachother
Prototrophs make their own materials for life in provided bare min of nutrients -water salt and carbon source
Auxotrophs can not synthesize the material they need to survive and flourish
Complete medium contains all the nutrients required for bacterial growth (auxo, and proto can grow on it)
Replica plating a techinique that allows you to study the genotypes of bacteria
Genomic the bacterial genome is a large circular DNA taht encode the genes required for bacterial function
Plasmids autonomously replicating extrachromosomal circular DNA
Episomes are plasmids that can integrate or deintegrate from the host genome
Conjugation mating between bacteria of opposite mating types
Transformation DNA taken from one bacteria to another vai phage
Transduction when DNA is inserted into a bacterium via a virus
Lytic cycle the virus enters the host
Lysogenic cycle the phage DNA inserts into the host genome
Karyotyping is a method by which metaphase chromosomes are differentiated from each other by size, location of centromere and banding patterns
Nucleotide a monomer for DNA or RNA contains 1-3 phosphate groups sugars and a nitrogenous base
DNA is double stranded with the strands running anti parallel
RNA is single stranded has double stranded areas this allows it to have an extensive tertiary structure
DNA Replication is replicated both semi conservatively and semi discontinously
Semi conservative DNA replications says that eahc parent strand serves as a template for the respective daughter strand
Semi discontinuous DNA replication is the mecanism behinds DNA replication
DNA toposomerase or gyrase is going to cut the DNA rotate the DNA and reseal the DNA ahead of the replication fork
DNA helicase unwinds the DNA helix
Single stranded DAN binding prtns bind DNA to keep it single stranded
RNA primase synthesizes RNA primers occurs at beginning of leading strand synthesis and at beginning of each okazaki fragment
DNA polymerase synthesizes DNA in a 5 to 3 directed, proofreads in either direction and can be used for repairs
DNA ligase ligates 2 okazaki fragments together or an okazaki fragment with a leading strand synthesis of another fork
Telomerase an enzyme that replicates the ends of chromosomes
mRNA code for proteins
rRNA and tRNA are needed for ribose synthesis
snRNA and snoRNA are needed for processing mRNA and rRNA
Prokaryote structure From start to finish all nucleotides are used to produce gene product. The gene itself consists of a small regulatory region (promoter) followed by gene coding region followed by regulatory region (terminator)
Eukaryote structure Have a large regulatory region followed by the gene coding region with introns, followed by regulatory region (terminator). Introns are removed from the mRNA and are not responsible for forming the gene product which is often protein
Colinearity Prokaryotic genes are
Codon three nucleotides that code for specific amino acid
Non-Colinearity Eukaryotes contain noncoding regions within there genes
4 steps of translation charging of tRNA, initiation, elongation, termination
Base insertion one or more nucleotides are added to a sequence DNA
Base deletion one or more nucleotides are deleted from a sequence of DNA
Recombinant DNA Technology used to study the moelcular aspects of genes to manipulate genes, to produce transgenic crops, and to treat genetic diseases with gene therapy
Genomics the study of the structure function organization and content of entire genomes
Genomes include bacteria, yeast, fly, bee, dog, and human
Created by: AshCha
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