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Genetics
Final Exam
| Question | Answer |
|---|---|
| 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 |