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what is a pedigree?
a visual representation of how a specific trait is passed down through generations
what is the square symbol in a pedigree?
a male
what is a circle symbol in a pedigree?
a female
what does it mean if the symbol is shaded in a pedigree?
the individual expresses that trait
what do horizontal lines connect in a pedigree?
mating partners
what do vertical lines connect in a pedigree?
connects parents to offspring
autosomal dominant
a pattern of inheritance where a single altered copy of a gene from one parent is sufficient to cause a genetic condition
autosomal recessive
a pattern of inheritance where a genetic trait or disorder appears only when an individual inherits to copies of a mutated gene - one from each parent
What is the expression of a dominant trait?
needs only one allele to be expressed
What is the expression of a recessive trait?
needs two alleles to be expressed
incomplete dominance
neither allele is completely dominant, the heterozygote results in a blend
co dominance
both alleles are expressed equally and simultaneously
polygenetic traits
traits controlled by multiple genes, resulting in a wise range of phenotypes
sex linked traits
genes located located on the sex chromosomes (X or Y)
Aneuploidy
the presence of an abnormal number of chromosomes in a cell
what is the cause of aneuploidy
caused by nondisjunction - failure of chromosomes to separate during meiosis
monosomy
missing a chromosome
trisomy
having an extra chromosome
structural or damage errors to chromosome structure
deletion, duplication, inversion, and translocation
What is the goal of amniocentesis
detect chromosomal abnormalities or metabolic errors before birth
what is the timing of amniocentesis?
14th - 16th week of pregnancy
what is the method/source of amniocentesis?
amniotic fluid
What is the goal of chorionic villus sampling?
detect chromosomal abnormalities, genetic disorders, and metabolic disorders. It is done faster and earlier than amniocentesis
what is the timing of chorionic villus sampling?
8th - 10th week of pregnancy
what is the method/source of chorionic villus sampling
placental tissue
What is the goal of newborn screening?
detects metabolic, genetic, hormone related, or functional disorders that are not otherwise apparent at birth
What were Aristotle and Judeo-Christian Cultures ideas of “evolution”
believed species were fixed (unchanging) and arranged on a scale of increasing complexity
What did carolus Linnaeus develop?
the binomial nomenclature system for naming species
What was Cuvier’s idea?
Catastrophism
Catastrophism
the geological and biological theory that Earth’s features, including mountain building, canyon formation, and mass extinctions, were primarily shaped by sudden, violent, and short lived events rather than slow, gradual processes.
What did Hutton hypothesize?
Gradualism
Gradualism
the theory that change occurs through slow, consistent, and incremental steps over long periods rather than abrupt, massive shifts
What did Lyell hypothesize?
uniformitarianism
uniformitarianism
the foundational principle in geology that states that the same natural laws and processes that operate in the universe today have always operated in the past
Who was Jean Baptiste de Lamarck
first to propose how life changes —> although it was later proved incorrect
use and disuse
body parts that are used extensively become larger/stronger; others deteriorate
inheritance of acquired characteristics
modification gained during an individuals lifetime are passed to offspring
are acquired characteristics passed down?
no not acquired
Components of Baptiste de Lamarcks theory
use and disuse; inheritance of acquired characteristics
What were the two pillars of Darwins logic?
variation and overproduction
variation
individuals in a population are unique
over population
species produce more offspring then the environment can support
what does overpopulation lead to?
competition
what is the sequence of evolution by natural selection?
overproduction —> variation —> selection —> adaptation
what are the four pieces of evidence for evolution?
direct observation, homology, artificial selection, and fossil record
what is an example of direct observation
antibiotic resistance
homology
similarities from common ancestors
homologous structures
some underlying structure but different functions
vestigial organs
remenents of structures that served a purpose in their ancestor but are now useless
molecular homology
all of life uses the same universal genetic code
phenotypic variation
observable differences in physical traits
genetic variation
differences in the actual DNA sequence
artificial selection
humans mimic natural selection by breeding organisms for specific traits proving populations can change overtime based on selective pressures
fossil record
provides a chronological record of how ancient organism gave rise to modern ones; showing the transition of life forms over millions of years
what is the flow of pheno and geno typic variation
genetic variation —> phenotypic variation —> natural selection acts on the phenotype
allele frequency
proportion of a specific allele
what equation is used for allele frequency?
p + q = 1
genotypic frequency
proportion of specific combination of alleles
what equation is used for genotypic frequency?
p² + 2pq + q² = 1
what are the five factors affecting allele frequency?
genetic drift, gene flow, mutation, non random mating, natural selection
types of genetic drift
founder effect and bottleneck effect
founder effect
a few individuals start a new colony. their small set of genes doesn’t represent the original group
the bottleneck effect
a disaster kills most of the population. Survivors are there by luck, changing the gene pool
Gene flow
the movement of alleles into or out of a population. this increases genetic diversity and reduces differences between populations
mutation
raw material for evolution. while rare, it is the only way to get a brand new allele.
non random mating
inbreeding - does not change allele frequencies but increases homozygous genotypes
natural selection
only factor that is adaptive. It accumulates favorable genotypes by ensuring the best fit individuals have offsprings
what are the three species concepts?
biological, morphological, and ecological
biological species concept
a species as groups of actually or potentially interbreeding natural populations that are reproductively isolated from other such groups
what is the biological species concept best applied to
living, sexually reproducing organisms
what is the limitation of the biological species concept
it cannot be applied to asexual organisms, fossils, or many plants that freely hybridize
morphological species concept
defines a species based on shared observable physical traits, such as shape, size, color, and anatomical structures
what are the limitations of the morphological species concept?
subjectivity
what is the morphological species concept best applied to?
fossil records, asexual organisms, and field studies where reproductive or genetic data is unavailable
ecological species concept
defines a species as a set of organisms adapted to a specific, unique ecological niche
ecological species concept limitations
flexibility in life history, difficulty determining competitive boundaries, and subjectivity in defining niche gaps
what is the ecological species concept best applied to?
asexual organisms and species with high rates of hybridization or limited reproductive date
what are the five prezygotic barriers
habitat, temporal, behavioral, mechanical, and behavior isolation
habitat isolation
they live in different places
temporal isolation
they mate at different times
behavioral isolation
they have different courtship rules
mechanical isolation
differences in reproductive structures prevent successful mating
gametic isolation
sperm cannot fertilize the egg due to biochemical incompatibility
what are the post zygotic barriers
reduced hybrid viability, reduced hybrid fertility, and hybrid breakdown
reduced hybrid viability
genetic incompatibilities between two species cause hybrid offspring to be frail, unhealthy, or die before reaching reproductive maturity
reduced hybrid fertility
hybrid offspring from two different species are sterile or have significantly reduced fertility
hybrid breakdown
first generation offspring of two different species are viable and fertile, but subsequent generations are sterile, weak, or inviable
allopatric speciation
process by which new species arise when a population is geographically separated by a physical barrier preventing gene flow
sympatric speciation
the process by which new species evolve from a single ancestral population while inhabiting the same geographic location, without physical barriers
gradualism
evolution is a small steady crawl. species accumulate small changes over vast periods of time
punctuated equilibrium
evolution happens in fits and starts. Long periods of no change are punctuated by brief rapid bursts of change
taxonomy
the science of naming, describing, and classifying organisms based of shared characteristics
phylogeny
focuses on evolutionary history and the actual genetic relationships among organisms based on shared ancestry
binomial nomenclature
the formal, two part scientific naming system for living organisms
example of binomial nomenclature
Tyto alba (T. alba)
Hierarchical classifications
domain
kingdom
phylum
class
order
family
genus
species
root
earliest common ancestor of all organisms in a tree
nodes (branch points)
represent a point where a lineage split into two
sister taxa
two organisms that share an immediate common ancestor. they are each others closest relatives
basal taxon
a lineage that evolved early from the root and remains unbranched