Types of Variation in Genetics

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Questions and Answers

What does a genotype represent in an organism?

  • The observable traits of an organism
  • The physical form of an organism
  • The genetic make-up of the organism (correct)
  • The environmental influences on an organism

Which of the following best describes a phenotype?

  • The observable characteristics of an organism (correct)
  • The mutations occurring in a species over time
  • The genetic sequence that determines traits
  • The inherited genetic traits passed from parents

What is the ultimate source of variation that fuels natural selection?

  • Environmental changes affecting traits
  • The phenotypic variations in populations
  • Random mating within a species
  • Genetic mutations in an organism's DNA (correct)

How is the relationship between genotype and phenotype often characterized?

<p>As complex, with some traits showing complete dominance (A)</p> Signup and view all the answers

Which factor does NOT influence phenotype?

<p>Phenotypic traits of the parent generation (C)</p> Signup and view all the answers

What is a characteristic of Neurofibromatosis-1?

<p>It causes excessive tissue growth along nerves. (A)</p> Signup and view all the answers

What relationship does Mendel's law of independent assortment describe?

<p>It applies to genes located on different chromosomes or far apart on the same chromosome. (A)</p> Signup and view all the answers

Which concept explains that one gene can affect many traits?

<p>Pleiotropy (C)</p> Signup and view all the answers

What does epistasis refer to in genetics?

<p>The interaction where one gene influences another gene's expression. (B)</p> Signup and view all the answers

Which term is used to describe traits that are controlled by multiple genes?

<p>Quantitative traits (D)</p> Signup and view all the answers

How does the relationship between genotype and phenotype typically appear?

<p>It is often complex and influenced by many factors. (B)</p> Signup and view all the answers

In the context of genetics, what does polygenic inheritance imply?

<p>Most traits are influenced by multiple genes. (D)</p> Signup and view all the answers

What can lead to potential blindness as a complication?

<p>Neurofibromatosis-1. (A)</p> Signup and view all the answers

What type of genetic variation can cause a premature stop in translation?

<p>Nonsense mutations (C)</p> Signup and view all the answers

Which type of mutation is characterized by a shift in the reading frame due to base changes?

<p>Frameshift (D)</p> Signup and view all the answers

What type of chromosomal rearrangement is associated with Huntington’s chorea?

<p>Duplication (B)</p> Signup and view all the answers

What genetic disorder is commonly caused by non-disjunction?

<p>Down syndrome (B)</p> Signup and view all the answers

Which of the following best describes a deletion mutation?

<p>Removal of a base pair from the DNA sequence (A)</p> Signup and view all the answers

Which genetic variation can directly result in an organism possessing XY sex chromosomes but presenting as female?

<p>Translocation of the SRY gene (A)</p> Signup and view all the answers

In terms of genetic variation, what does the term 'inversion' refer to?

<p>Rearrangement of a segment of DNA in reverse order (C)</p> Signup and view all the answers

How do identical twins' fingerprints demonstrate the complexity of genotype-phenotype relationships?

<p>They may have different fingerprints despite identical genotypes. (A)</p> Signup and view all the answers

Which type of mutation results from a single nucleotide substitution?

<p>All of the above (D)</p> Signup and view all the answers

What is a significant source of genetic variation during reproduction?

<p>Recombination and independent assortment (A)</p> Signup and view all the answers

Which type of mutation leads to a change in the amino acid sequence of a protein?

<p>Missense mutation (B)</p> Signup and view all the answers

What is the 'Norm of Reaction'?

<p>A concept describing the role of environment in shaping phenotypes. (C)</p> Signup and view all the answers

Which of the following is NOT a known cause of mutation?

<p>Variation from genetic drift (C)</p> Signup and view all the answers

What is the effect of a silent mutation?

<p>It has no effect on the resulting protein. (D)</p> Signup and view all the answers

Which condition is an example of a disease caused by a point mutation?

<p>Sickle cell anemia (A)</p> Signup and view all the answers

How is phenylketonuria (PKU) an example of genotype-phenotype interaction?

<p>It shows how environmental factors can influence genetic expression. (B)</p> Signup and view all the answers

Flashcards

Genotype

The organism's genetic makeup

Phenotype

The organism's observable traits

Trait

A characteristic of an organism (like eye color)

Genotype-Phenotype Relationship

The link between genetic makeup and observable traits is often complex.

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Complete Dominance

A simple relationship between genotype and phenotype, where one allele masks the effect of another.

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Source of Variation

New gene combinations are one source of variation, but the ultimate source comes from genetic changes.

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Neurofibromatosis-1

A genetic disorder causing excessive tissue growth along nerves, potentially leading to blindness.

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Incomplete Dominance

A genetic situation where the heterozygous phenotype is intermediate between the two homozygous phenotypes.

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Linked Genes

Genes located close together on the same chromosome that tend to be inherited together.

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Mendel's Law of Independent Assortment

Genes on different chromosomes or far apart on the same chromosome segregate independently during gamete formation.

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Pleiotropy

One gene affecting many traits.

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Epistasis

Interaction between genes where one gene affects the expression of another gene.

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Quantitative Traits

Traits that vary continuously over a range of values rather than in distinct categories.

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Polygenic Inheritance

A trait determined by the interaction of multiple genes.

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Genotype-phenotype relationship

The connection between an organism's genetic makeup (genotype) and its observable traits (phenotype) is often complex.

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Environmental influence on phenotype

Phenotype is influenced by the environment.

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Height as Phenotype

Height is a phenotype, meaning that it's a trait that can be observed and is influenced by both genetics and environment.

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Point mutation (substitution)

A change in a single DNA nucleotide base pair. A substitution can result in a silent (same amino acid), or missense (different amino acid) mutation.

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Silent mutation

A point mutation that results in the same amino acid being produced.

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Missense mutation

A point mutation that results in a different amino acid being produced, possibly changing protein function.

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Source of Genetic Variation - Mutation

Mutations like point mutations, errors in repair, damage from radiation, or unequal crossing over, are fundamental to generating genetic variation.

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Source of Genetic Variation - Recombination

Mixing of existing genes during reproduction, like genetic shuffling, leads to new combinations of traits.

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Nonsense Mutation

A mutation that causes a premature stop codon, interrupting protein synthesis.

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Point Mutation

A change in a single nucleotide base pair in DNA.

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Substitution Mutation

A type of point mutation where one nucleotide is replaced with another.

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Insertion/Deletion Mutation

A type of point mutation where nucleotides are added or removed from the DNA sequence.

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Frameshift Mutation

A mutation that shifts the reading frame of the genetic code, altering all subsequent codons.

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Chromosomal Rearrangement

Changes in large segments of chromosomes, such as deletions, duplications, inversions, and translocations.

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Deletion (Mutation)

Loss of a segment of DNA from a chromosome.

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Duplication (Mutation)

A segment of DNA is copied and inserted into the chromosome.

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Inversion (Mutation)

A segment of DNA is reversed.

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Translocation (Mutation)

A segment of DNA from one chromosome is moved to another.

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Non-disjunction

Failure of chromosomes to separate properly during cell division.

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Down Syndrome

A genetic disorder caused by the presence of an extra copy of chromosome 21.

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Study Notes

Types of Variation

  • Genotypes, phenotypes, and evolution
  • Relationship between genotype and phenotype is sometimes simple, sometimes complex
  • Complete dominance
  • Example: Neurofibromatosis-1 (excessive tissue growth along nerves, potential blindness)
  • Incomplete dominance
  • Example: Flower color inheritance (red x white = pink)

Genotype and Phenotype

  • Trait: Characteristics of an organism (e.g., eye color, hair color, seed shape)
  • Genotype: Genetic makeup of an organism
  • Phenotype: Observable features of an organism

Relationship Between Genotype and Phenotype

  • Complex relationship: One gene can affect many traits (pleiotropy)
  • Example: Coloration and crossed eyes in Siamese cats; Marfan syndrome

Sources of Genetic Variation

  • Recombination and independent assortment: Reshuffling of existing variation
  • Mutation:
    • Errors in DNA repair or synthesis
    • Damage by X-rays or chemicals
    • Unequal crossing over
    • Errors in meiosis
  • Point mutations:
    • Substitution (silent - same amino acid, missense - wrong amino acid)
    • Examples: sickle cell anemia, osteogenesis imperfecta
  • Larger-scale chromosomal rearrangements:
    • Deletion
    • Duplication
    • Inversion
    • Translocation (e.g., SRY gene -> XX males)
  • Chromosome number:
    • Non-disjunction (e.g., Down syndrome)
    • Polyploidy

Environment and Phenotype

  • Environment influences phenotype
  • Example: height, Phenylketonuria (PKU)
  • Norm of reaction: A very important concept

Summary

  • Relationship between genotype and phenotype is complex.
  • Truly Mendelian inheritance is a small subset.
  • Recombination and independent assortment create new combinations.
  • Variation arises from mutations.

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