The genetic makeup of an organism, the alleles it carries
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Phenotype
The physical traits of an organism, determined by genotype
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Homozygous
Having two identical alleles for a particular gene (ex. AA, aa)
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Heterozygous
Having two different alleles for a particular gene (ex. Aa)
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Dominant Allele
An allele that expresses its phenotypic effect even when heterozygous with a recessive allele (only takes one copy to be expressed)
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Recessive Allele
An allele whose phenotypic effect is not expressed in a heterozygote (requires two copies to be expressed, phenotype is masked by presence of dominant allele)
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Law of Segregation
Two alleles (on separate chromosomes) for a gene separate (segregate) so that each egg or sperm (gamete) gets only one of the two alleles
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Law of Independent Assortment
Copies of different genes (chromosomes) get sorted into gametes independently of one another
However, genes located near each other on the same chromosome tend to be inherited together
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When may inheritance patterns deviate from simple Mendelian patterns?
Alleles are not completely dominant or recessive
When a gene has more than two alleles
When a single gene produces multiple phenotypes
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Complete Dominance
The heterozygote has the same phenotype as the dominant homozygote
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Incomplete Dominance
The heterozygote phenotype is intermediate between the dominant and recessive homozygotes
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Codominance
The heterozygote phenotype express both the dominant and recessive phenotypes equally
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Are dominant or recessive alleles more common?
They are both equally as common.
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What are the blood types in Humans?
A, B, O
A and B are dominant over O A and B are codominant with each other O us recessive
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Pleitropy
One gene influences multiple traits (phenotypes)
Can cause multiple symptoms in hereditary diseases
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Epistasis
One gene controls the expression of another gene (gene interactions)
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Polygenic Inheritance
Single phenotypic character results from the additive effects of two or more genes on a single phenotypic character
Quantitative characters (traits) vary along a continuum (not discrete traits) Skin color and height are two good examples
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Pedigree
Family tree that contains a family's history for a particular trait, can help deduce the patterns of inheritance of genetic diseases
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Carriers
Heterozygous individuals who carry the recessive allele but are phenotypically normal
Mating between close relatives increases the chance of two carriers producing offspring that are homozygous for a rare recessive disorder
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Zygote
The first diploid cell produced by fertilization
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Gene
The place in the DNA that encodes information causing a trait
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Locus
Location on a chromosome, usually location of a gene
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Wildtype Allele
The most common allele in a population
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Mutant Allele
A rare allele in a population
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Blending Inheritance Hypothesis
The idea that genetic material from the two parents blends together
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Particulate Inheritance Hypothesis
The idea that parents pass on discrete heritable units (genes)
Mendel and his pea plants documented this mechanism
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What is an example of a human disease that is inherited as a simple recessive trait?