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Unlocking Life's Code: A Comprehensive Guide to Molecular Genetics and Heredity in BIOL 207. Ultimate Exam Study Guide Latest Updated 2025/2026. Top Score Grade A+ Guaranteed.
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Typical definition of Genetics - ansThe study of genes, heredity, and genetic variation What is a gene? - ans•Basic unit of heredity •Sequence of DNA that codes for a product (RNA or protein) and it's regulatory regions •Located on chromosomes What is an allele? - ansOne of two or more versions of a gene What is a genome? - ans•The complete set of genetic material in a cell (including mitochondrial, chloroplast, plasmid DNA) •Includes genes as well as non-coding DNA regions Genes vs Traits/phenotypes - ans•Genes are inherited •Traits/phenotype are not directly inherited •Traits/phenotype •Observable characteristic •Manifest as a result of the genes an individual carries, and the environment that influences the expression of the genes •Heritable trait - when a particular trait can be passed genetically Central dogma - ansDNA - > RNA - > Protein Since all organisms are thought to have evolved from a common ancestor this implies? - ansthe coding system for genetic information is the same in all living organisms ATCG Model Genetic Organisms - ansOrganisms with characteristics that make them useful for genetic analysis
3 Laws of Heredity - ans1. The law of independent segregation: Each individual carries two copies of an inherited trait (e.g., alleles), which segregate equally in the following generation.
How did DNA meet the requirement for genetic info:
DNA polymerase α - anshas primase activity and initiates nuclear DNA synthesis by synthesizing an RNA primer, followed by a short string of DNA nucleotides DNA polymerase δ - ans-DNA synthesis on lagging strand
G2 phase - ansPreparation for division; G2 /M checkpoint.
Prophase - ansfirst and longest phase of mitosis in which the genetic material inside the nucleus condenses and the chromosomes become visible
Prometaphase - ansThe second stage of mitosis, in which the nuclear envelope fragments, and the spindle microtubules attach to the kinetochores of the chromosomes.
Metaphase - ansChromosomes line up in the middle of the cell
Anaphase - ansPhase of mitosis in which the chromosomes separate and move to opposite ends of the cell
Telophase - ansAfter the chromosome seperates, the cell seals off, Final Phase of Mitosis.
Cytokinesis - ansCytoplasm divides; cell wall forms in plant cells. Order of events in M phase - ansProphase, prometaphase, metaphase, anaphase, telophase and cytokinesis Proper sister chromatid segregation depends on cohesins - ansCohesin complex (forms rings at DNA replication stage, during metaphase spindles attach to kinetochore (cohesin complex is in between the chromatids) and during anaphase Separase cleaves cohesin subunit Genetic Consequences of Mitosis - ans1.Results in 2 daughter cells that are genetically identical (in theory) 2.Results in 2 daughter cells that have the full complement of chromosomes (no increase or decrease) 3.Daughter cells contain •~half of the cytoplasm ~half of the organelles Difference between homologous pairs and sister chromatid? - ansSister chromatids are used in cell division. Sister chromatids are genetically the same homologous chromosomes are used in reproductive division 3 steps of meiosis - ansinterphase, meiosis I, meiosis II order of events in meiosis I - ansProphase I, Metaphase I, Anaphase I, and Telophase I Prophase I - ans-DNA condenses into chromosomes
The importance of mutations - ans1.Necessary for Evolution: Source of all genetic variation, which further provides the raw material for evolution 2.Cause of many diseases and disorders The two basic classes of mutations in multicellular organisms - ans1.Somatic mutations 2.Germ-line mutations. Somatic Mutations - ansMutations that occur in body cells, aren't passed to offspring, and don't affect the gametes
Robertsonian translocation - ansTranslocation in which the long arms of two acrocentric chromosomes become joined to a common centromere, resulting in a chromosome with two long arms and usually another chromosome with two short arms. aneuploidy nondisjunction during meiosis I - ansresults in zygotes is 2 monosomic 2n- 1 and 2 trisomic 2n+ aneuploidy nondisjunction during meiosis II - ansresults in zygotes is 2 normal diploid 2n, 1 trisomic 2n+1 and 1 monosomic 2n- 1 aneuploidy nondisjunction during mitosis - anssomatic clone of monosomic cells 2n-1 and somatic clone of trisomic cells 2n+ Effects of Aneuploidy - ans•Usually lethal •No change in DNA sequence, but in copy numbers of genes - gene dosage effect •Down syndrome is caused by an aneuploidy of chr. 2 1 •92% of individuals have 3 copies of chr. 21 (47 chromosomes total) •Caused by spontaneous nondisjunction (does not run in families) •4% of individuals have a piece of chr. 21 that has translocated onto another chromosome (familial Down syndrome) •Maternal age increases are associated with higher rates of nondisjunction •Many cancerous tumor cells have extra or missing chromosomes Genetic mosaicism for the sex chromosomes produces a - ansgynandromorph Nondisjunction in a mitotic division produces - ansgenetic mosaicism Polyploidy - ans•Common in plants •Important in agriculture - used to produce larger plants and seedless fruits •Also seen in invertebrates, fishes, amphibians, reptiles •Autopolyploidy •From single species •Allopolyploidy From two species Allopolyploidy - ansFrom two species Autopolyploidy - ansFrom single species Autopolyploidy in mitosis - ans Autopolyploidy in meiosis - ans Autotriploid homologous chromosomes can pair, or not, in three ways - ans•Unequal chromosome numbers in gametes usually results in sterility. •This has been exploited in agriculture to produce seedless bananas and seedless watermelons (3n) Allopolyploids may arise from hybridization between two species followed by chromosome doubling - ans Redundancy of DNA repair mechanisms (multiple ways to repair DNA damage - ans1.Mismatch repair 2.Direct repair 3.Base-excision repair 4.Nucleotide-excision repair 5.Double stranded break repair Mismatch Repair - ans•Occurs shortly after DNA replication •Mismatched bases, small loops in DNA, and other DNA lesions •Secondary structures e.g., hairpin loops may be missed
Enzymes cut out the newly synthesized strand of DNA and replace it with new nucleotides. Direct Repair - ans•Restores the correct chemical structures of altered nucleotides •E.g., UV-induced pyrimidine dimers Base-Excision repair - ans•Glycosylase enzymes recognize and remove specific types of damaged bases. •The entire nucleotide is then removed, and a section of the polynucleotide strand is replaced. Nucleotide-excision repair - ans•Removes and replaces many types of damaged DNA that distort the DNA structure. •The two strands of DNA are separated, a section of the DNA containing the distortion is removed, DNA polymerase fills in the gap, and DNA ligase seals the filled-in gap. Double-Stranded Break Repair - ans1.Homology directed repair •Same mechanism as homologous recombination we covered previously •Usually uses sister chromatid to repair break •BRCA1 and BRCA2 are enzymes involved in this process 2.Nonhomologous end joining •No 'template' used, thus is error prone •Usually occurs in G1 cell cycle stage (no sister chromatid to serve as a template) •Proteins recognize broken ends of DNA and join them together Genetic diseases and faulty DNA repair - ans•Defects in DNA repair are the underlying cause of several genetic diseases.
Dominant and recessive describe the... - ansrelationship between two alleles (not two genes!) Dominant allele - ansheterozygotes individuals with one copy of the gene are phenotypically indistinguishable from the homozygotes Recessive allele - ansphenotype only observable in homozygotes heteroallelic - ansin one gene there are two different alleles resulting from different mutations