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Genes
DNA regions that encode proteins
Chromosomes
Organized structures containing DNA and proteins that package and manage the storage, duplication, expression, and evolution DNA
Genome
The DNA within the entire collection of chromosomes in each cell of an organism
Metabolism
The chemical and physical reactions that carry out and convert materials into energy
Proteins
Large polymers composed of hundreds to thousands of amino acid subunits strung together in long chains
Convergent Evolution
Structurally unrelated but functionally analogous organs emerge in different species as a result of natural selection
Exons
Protein-encoding region of most genes
Introns
DNA that does not code for protein
Chromosome Theory of Inheritance
The idea that chromosomes are the carriers of genes
Mitosis
Nuclear division followed by cell division that results in two daughter cells containing the same number of chromosomes as the original parent
Meiosis
Nuclear division that generates egg or sperm cells containing half the number of chromosomes found in other cells within the same organism
Fertilization
The union of haploid gametes to produce diploid zygotes
Haploid Cell
Cells that carry only a single set of chromosomes
Diploid Cells
Cells that carry two matching sets of chromosomes
Metaphase
The point in replication just before the nucleus divides
Sister Chromatids
After the chromosomes have duplicated they condense into compact rodlike structures creating two identical halves
Centromere
The point where the two sister chromatids attach to each other
Metacentric Chromosomes
The centromere is basically in the middle of the sister chromatids
Acrocentric Chromosomes
The centroemere is very close to one end of one of the sister chromatids
Homologous Chromosomes
Chromosomes that match in size, shape, and banding pattern
Nonhomologous Chromosomes
Carry Completely unrelated sets of genetic information
Autosomes
Matching pairs of chromosomes in a karyotype
Chromatin
Thread like structure that is composed primarily of DNA and protein
Nucleus
Manufactures ribosomes, the organelles that function in protein synthesis
Interphase
The period between cell divisions
What are the 3 parts of interphase?
Gap1, Gap2, Synthesis
Gap 1
Birth of a new cell --> onset of chromosome replication: Nothing really happens here
Synthesis (Interphase)
Time where cell duplicates its genetic material by synthesizing DNA
Gap 2
Time between chromosome duplication and the beginning of mitosis
Prophase
Chromosomes condense
Prometaphase
Spindle forms
Kinetochore
A structure in the centromere region of each chromatid that is specialized for conveyance (chromosomes attach to microtubules using this)
Mitotic Spindle
The combination of 3 types of microtubule fibers
Kinetochore Microtubules
Microtubules that extend between a centrosome and the kinetochore of a chromatid
Polar Microtubules
Microtubules from each centrosome that are are directed toward the middle of the cell
Astral Microtubules
Extend from the centrosome toward the cell’s periphery
Metaphase
Chromosomes align at the cell's equator
Anaphase
Sister chromatids move to opposite spindle poles
Telophase
Indentical sets of chromosomes are enclosed in two nuclei
Cytokinesis
The cytoplasm divides
Regulatory Checkpoints
Moments at which the cell evaluates the results of previous steps
How do somatic cells divide?
Mitotically
Germ Cells
Cells destined for a specialized role in the production of gametes
Division 1 of Meiosis
Parent nucleus divides to form 2 daughter nuclei
Division II of Meiosis
Each of the daughter nuclei divide resulting in 4 nuclei
Prophase 1
Homologs condense and air, crossing over occurs here
What are the five subgroups of prophase 1?
Leptotene, Zygotene, Pachytene, Dipotene, Diakinesis
Leptotene
Long thin chromosomes begin to thicken
Zygotene
Begins as each chromosome seeks out its homologous partner & matching chromosomes becomes zipped together
Synapsis
When homologs are aligned together (during zygotene)
Pachytene
Begins a the completion of synapsis, Crossing Over
Bivalent
Each synapsed chromosome pair (2 chromosomes)
Recombination Nodules
Nodules that appear along the synaptonemal complex hat allow paternal and maternal chromatids to exchange parts
Dipotene
Chisamata is formed, cell begins to start to pull apart
Chisamata
Sites on the bivalent chromosomes where crossing over has occured
Diakinesis
Further condensation of the chromatids, nuclear envelope breaks down, microtubules of the spindle apparatus begin to form
Metaphase 1
Paired homologs attach to spingle fibers from opposite poles
Anaphase 1
Homologs move to opposite spindle pores
Telophase 1
Nuclear Envelope reforms
Meiosis 2
Sister chromatids separate to produce haploid gametes
Prophase 2
Chromosomes condense
Metaphase 2
Chromosomes align at the metaphase plate
Anaphase 2
Sister chromatids move to opposite spindle poles
Telophase 2
Nuclear membranes re-form and cytokinesis follows
Nondisjunction
When homologs in a chromosome don't segregate during Meiosis 1 & travel to same pole & become part of the same gamete
Gametogensis
The formation of gametes
Oogonia
The human ovary
Oogenesis
THe process in which diploid germ cells in Oogonia multiply rapidly by mitosis producing large amounts of primary oocytes
Oocyte
Female egg
Sex-limited Traits
Traits that affect a structure or process that is found in one sex but not the other
Sex-influence Traits
Traits that show up in both sexes but expression may differ between the two sexes because of hormonal differences
Product Rule
The probability of two or more independent events occurring together is the product of the probabilities that each event will occur by itself
Sum Rule
The probability of either of two such mutally exclusive events occuring is the sum of their individual probabilities
Dihybrid
An individual that is heterozygous for two genes at the same time
Parental Types
3rd generation that ends up looking identical to 1st generation parents
Recombinant Types
New phenotypic combinations that have not been seen in 1st generation parents
The Law of Independent Assortment
During gamete formation, different pairs of alleles segregate independently of each other
Phenotypic Ratio between 2 dihybrids
9:3:3:1
Pedigree
A family history represented as an orderly diagram of a family’s relevant genetic features extending back to at least both sets of grandparents, preferably more
Consanguineous Mating
Mating between relatives
Late-Onset Genetic Condition
A condition in which symptoms are not present at birth and manifest themselves only later in life
Multifactorial
Trait determined by two or more genes
Incomplete Dominance
The F1 hybrid resembles neither pure-breeding parent
Codominance
The F1 Hybrid exhibits traits of both parents
What ratio does codominance result in?
1:2:1
Complete Dominance
F1 progeny look like one of the true breeding parents
What kind of ratio does a complete dominance circumstance result in?
3:1
Incomplete Dominance
Hybrid resemble neither of the parent and thus display neither pure-breeding trait
What kind of ratio does an incomplete dominance circumstance result in?
1:2:1
Dominance Series
Alleles are listed in order from most dominant to most recessive
Histocompatibilty Antigens
Facilitate a proper immune response that destroys intruders while leaving the body's own tissues intact
Mutations
Chance alterations of genetic material that arise spontaneously in nature
Allele Frequency
The percentage of the total number of gene copies in each allele of the gene
Wild-Type Allele
The most common allele in a population
Mutant Allele
A rare allele in the same population
Monomorphic
A gene with only one common wild-type allele
Polymorphic
Genes that have more than one common allele
Pleiotrophy
The phenomenon of a single gene determing a number of distinct and seemingly unrelated characteristics
Recessive Lethal Allele
An allele that negatively affects the survival of a homozygote
Epistasis
A gene interaction in which the effects of an allele at one gene hides the effect of alleles at another gene
Recessive Epistasis
The masking phenomenon is due to the recessive allele
Dominant Epistasis
Epistasis caused by the dominant allele
Heterogeneous Trait
A mutation at any one of a number of genes can give rise to the same phenotype
Complementation Test
A natural test in which what appears to be an identical recessive phenotype arises in two separate breeding lines. Mating between two affected individuals from two separate lines who whether or not the gene is the same in both cases or if the mutant gene is different
What are factors that alter the phenotypic expression of genotype?
Modifier Genes, the environment, chance
Penetrance
How many members of a population with a particular genotype show the expected phenotype (can be 100% or incomplete)
Expressivity
The degree or intensity with which a particular genotype is expressed in a phenotype
Conditional Lethal
Allele tht is lethal only under certain conditions
Permissive Conditions
The range of temperatures under which an organism remains viable
Restrictive Conditions
Lethal temperatures
Phenocopy
A change in phenotype due to exposure to chemical or other environmental agents
Chi-Square Test
The probability test that measures the "goodness of fit" between an observation and the predicted results

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