Biology

Inheritance and Variation flashcards

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What is genotype at a locus?Mendelian Patterns
The allele combination at that genetic position.
What is phenotype?Mendelian Patterns
An observable feature shaped by genes and context.
What does heterozygous mean?Mendelian Patterns
Having two different alleles at a locus.
Does dominant mean more common?Mendelian Patterns
No; dominance describes expression in a specified heterozygote.
What is the law of segregation?Mendelian Patterns
The two alleles at a diploid locus ordinarily separate into gametes.
What allele does a typical gamete carry at one locus?Mendelian Patterns
One of the two parental alleles.
What are expected gametes from Aa?Mendelian Patterns
A and a, usually modeled at equal probabilities.
Does expected 1:1 mean every tiny sample is 1:1?Mendelian Patterns
No; chance causes sample variation.
What is independent assortment?Mendelian Patterns
Independent inheritance of allele choices at effectively unlinked loci.
What is genetic linkage?Mendelian Patterns
Tendency of loci on the same chromosome to be inherited together.
What gametes are expected from unlinked AaBb?Mendelian Patterns
AB, Ab, aB, and ab at 1/4 each.
How can linked alleles be separated?Mendelian Patterns
Crossing over between their loci can recombine them.
What does a Punnett square show?Probability and Punnett Models
Modeled combinations of parental gametes and their probabilities.
What is the Aa × Aa genotype ratio?Probability and Punnett Models
1 AA : 2 Aa : 1 aa under equal segregation.
What is the Aa × Aa phenotype ratio with complete dominance?Probability and Punnett Models
3 dominant : 1 recessive as an expectation.
Does a Punnett box represent a guaranteed child?Probability and Punnett Models
No; it represents a possible outcome with a probability.
When do we multiply probabilities?Probability and Punnett Models
When independent specified events must both occur.
When do we add probabilities?Probability and Punnett Models
When mutually exclusive routes lead to a result.
What is conditional probability?Probability and Punnett Models
Probability after restricting attention to a stated subset of outcomes.
What is P(aabb) for independent AaBb × AaBb?Probability and Punnett Models
1/16 under simple equal-segregation assumptions.
When is 9:3:3:1 expected?Probability and Punnett Models
A two-locus heterozygote cross with independent assortment and complete dominance.
What is sampling variation?Probability and Punnett Models
Chance differences between observed counts and expected proportions.
What can linkage change?Probability and Punnett Models
Expected frequencies of two-locus combinations.
Does a close ratio prove a model?Probability and Punnett Models
No; multiple models may fit limited data.
What is incomplete dominance?Beyond Simple Dominance
An intermediate heterozygote phenotype for a stated trait.
What is codominance?Beyond Simple Dominance
Both allele-associated effects are detectable in a heterozygote.
Are alleles physically blended in either model?Beyond Simple Dominance
No; intact alleles still segregate.
What phenotype ratio may result from a heterozygote cross with three distinguishable genotypes?Beyond Simple Dominance
1:2:1 under equal-segregation assumptions.
What are multiple alleles?Beyond Simple Dominance
More than two variants of a locus in a population.
What is a polygenic trait?Beyond Simple Dominance
A feature influenced by variants at multiple loci.
What is a multifactorial trait?Beyond Simple Dominance
A feature influenced by genetic and environmental factors.
What does heritability summarize?Beyond Simple Dominance
A population-level fraction of observed variation under particular conditions.
What is epistasis?Beyond Simple Dominance
One locus modifying the phenotypic effect of another.
What is a sex-linked gene?Beyond Simple Dominance
A gene located on a sex chromosome in a given system.
What is genetic linkage?Beyond Simple Dominance
Nearby loci on one chromosome inherited together more often.
What is organelle inheritance?Beyond Simple Dominance
Transmission of genetic material from organelles such as mitochondria.
What is a pedigree?Pedigrees and Evidence
A diagram of relationships and traits across generations.
What does shading usually mark?Pedigrees and Evidence
An observed feature defined by the diagram key.
Can an unshaded person carry a recessive allele?Pedigrees and Evidence
Yes, a heterozygote may lack the recessive phenotype.
Why is a pedigree not a genotype readout?Pedigrees and Evidence
It primarily records relationships and observed traits.
What pattern can unaffected carriers produce?Pedigrees and Evidence
An offspring with an autosomal recessive phenotype.
For Aa × Aa, what is P(Aa | unaffected) with full penetrance?Pedigrees and Evidence
2/3.
What is full penetrance in a stated model?Pedigrees and Evidence
Everyone with the specified genotype shows the modeled phenotype.
Why is a 2/3 carrier probability conditional?Pedigrees and Evidence
It applies after excluding the recessive phenotype outcome.
What is a pedigree hypothesis?Pedigrees and Evidence
A proposed inheritance model evaluated against family observations.
Does a trait in every generation prove dominance?Pedigrees and Evidence
No, several mechanisms or sampling patterns may fit.
Can a sequence association alone establish cause?Pedigrees and Evidence
No; other genetic and environmental factors need evaluation.
What does model compatibility mean?Pedigrees and Evidence
The observations do not contradict the model under its assumptions.
What does independent assortment rearrange?Sources of Genetic Variation
Whole homologous chromosome combinations.
What does crossing over rearrange?Sources of Genetic Variation
Segments and linked allele combinations.
What does 2^n count in a simple model?Sources of Genetic Variation
Whole-chromosome combinations for n independently assorting pairs.
Do these processes create new bases from nothing?Sources of Genetic Variation
No, they rearrange existing genetic material.
What creates a new allele sequence?Sources of Genetic Variation
A DNA mutation.
What is a germline-transmitted change?Sources of Genetic Variation
A variant in a lineage that contributes to gametes and can be inherited.
What do repair systems do?Sources of Genetic Variation
Reduce, but do not eliminate, DNA errors.
Are needed mutations produced on demand?Sources of Genetic Variation
No; selection does not direct their appearance.
What is allele frequency?Sources of Genetic Variation
A specified allele’s fraction among sampled gene copies at a locus.
What is genotype frequency?Sources of Genetic Variation
The fraction of sampled individuals with a stated genotype.
What is genetic drift?Sources of Genetic Variation
Chance change in allele frequencies across generations.
Can frequency change alone identify a unique cause?Sources of Genetic Variation
No; multiple population processes can contribute.