Mendelian Inheritance Patterns Chapter 17
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Questions and Answers

What is the transmission of traits from parent to offspring called?

Inheritance

What is the term for the theory of 'seeds' from all body parts?

Pangenesis

What is the concept that traits blend together in offspring generations?

Blending inheritance

Who is considered the 'father of modern genetics' and studied pea plants?

<p>Gregor Mendel</p> Signup and view all the answers

What is the scientific name for the garden pea used in genetic studies?

<p>Pisum sativum</p> Signup and view all the answers

What term describes the diverse visible characteristics in pea plants?

<p>Genetic variation</p> Signup and view all the answers

What type of fertilization occurs when a female gamete is fertilized by a male gamete from the same plant?

<p>Self-fertilization</p> Signup and view all the answers

What is the process of manually crossing plants to produce hybrids?

<p>Cross-fertilization</p> Signup and view all the answers

What type of genetic cross examines variants of only one character?

<p>Single factor crosses</p> Signup and view all the answers

What is the term for true-breeding parents in a genetic cross?

<p>P generation</p> Signup and view all the answers

What is the name for the first-generation offspring from the P generation?

<p>F1 generation</p> Signup and view all the answers

What is the designation for the offspring from self-fertilized F1 hybrids?

<p>F2 generation</p> Signup and view all the answers

What type of trait is expressed in true-breeding and F1 hybrids?

<p>Dominant trait</p> Signup and view all the answers

What is the definition of a recessive trait?

<p>A trait hidden in F1 hybrids but expressed in F2</p> Signup and view all the answers

What term describes variant forms of a gene from each parent?

<p>Alleles</p> Signup and view all the answers

What is the principle that alleles separate during gamete formation?

<p>Law of Segregation</p> Signup and view all the answers

What term refers to the genetic composition of an individual?

<p>Genotype</p> Signup and view all the answers

What is the definition of phenotype?

<p>Observable traits resulting from genotype</p> Signup and view all the answers

What does it mean when an individual has two identical alleles for a gene?

<p>Homozygous</p> Signup and view all the answers

What is the term for an individual with two different alleles for a gene?

<p>Heterozygous</p> Signup and view all the answers

What tool is used to predict genetic cross outcomes?

<p>Punnett square</p> Signup and view all the answers

What type of cross is used to identify homozygous or heterozygous traits?

<p>Testcross</p> Signup and view all the answers

What type of genetic cross examines the inheritance of two different traits?

<p>Two-factor crosses</p> Signup and view all the answers

What principle states that alleles assort independently during gamete formation?

<p>Independent Assortment</p> Signup and view all the answers

What is the study of trait inheritance across generations called?

<p>Pedigree analysis</p> Signup and view all the answers

What is the term for inheritance patterns for simple genetic diseases?

<p>Mendelian patterns</p> Signup and view all the answers

What is an altered version of a gene that can cause disease symptoms?

<p>Mutant allele</p> Signup and view all the answers

What is a chart used to trace inheritance patterns?

<p>Pedigree</p> Signup and view all the answers

What is a recessive disease affecting chloride channel function?

<p>Cystic fibrosis</p> Signup and view all the answers

What term describes an individual carrying one recessive allele for a trait but not exhibiting the disease?

<p>Heterozygous carrier</p> Signup and view all the answers

What is the gene encoding a chloride channel that is mutated in cystic fibrosis?

<p>CFTR gene</p> Signup and view all the answers

What symptom of cystic fibrosis is a result of disrupted chloride and water movement?

<p>Thick mucus</p> Signup and view all the answers

What is a dominant genetic disorder with late-onset symptoms?

<p>Huntington disease</p> Signup and view all the answers

What are chromosomes not involved in determining sex called?

<p>Autosomes</p> Signup and view all the answers

What are the chromosomes that determine an individual's sex called?

<p>Sex chromosomes</p> Signup and view all the answers

What is the sex determination system in humans?

<p>XY system</p> Signup and view all the answers

What gene on the Y chromosome triggers male development?

<p>SRY gene</p> Signup and view all the answers

What are traits determined by genes located on the X chromosome called?

<p>X-linked traits</p> Signup and view all the answers

What condition describes having only one copy of a gene, as in males?

<p>Hemizygous</p> Signup and view all the answers

What is the name for a disease that is more common in males because it is caused by an X-linked gene?

<p>X-linked recessive disease</p> Signup and view all the answers

What is an X-linked recessive disorder causing excessive bleeding?

<p>Hemophilia A</p> Signup and view all the answers

What experiments linked eye color and sex in Drosophila?

<p>Morgan's Experiments</p> Signup and view all the answers

What is the most common allele in a population called?

<p>Wild-type allele</p> Signup and view all the answers

What are rare alleles altered by mutation called?

<p>Mutant alleles</p> Signup and view all the answers

What term describes mutations that decrease protein activity or synthesis?

<p>Loss of function</p> Signup and view all the answers

What is the phenotype expressed with one dominant allele?

<p>Dominant phenotype</p> Signup and view all the answers

What type of allele produces functional protein affecting phenotype expression?

<p>Dominant allele</p> Signup and view all the answers

What is the definition of a recessive allele?

<p>Has a mutation, does not produce functional protein</p> Signup and view all the answers

What condition describes having 50% of the normal protein level, which is sufficient for a normal phenotype?

<p>Normal Protein Level</p> Signup and view all the answers

What is the genotype (aa) with low functional protein levels?

<p>Homozygous Recessive</p> Signup and view all the answers

What is the condition where heterozygotes show an intermediate phenotype?

<p>Incomplete dominance</p> Signup and view all the answers

What is an example of a condition where heterozygotes have elevated phenylalanine levels?

<p>Phenylketonuria (PKU)</p> Signup and view all the answers

What is the inheritance pattern where both alleles are expressed in the phenotype simultaneously?

<p>Codominance</p> Signup and view all the answers

What is the term for the phenotypic range under different environmental conditions?

<p>Norm of reaction</p> Signup and view all the answers

What are traits influenced by multiple genes and environmental factors called?

<p>Complex traits</p> Signup and view all the answers

What is the interaction of multiple gene products in controlling a single trait?

<p>Gene interaction</p> Signup and view all the answers

What is the type of gene interaction where one gene's alleles mask another gene's expression?

<p>Epistatic gene interaction</p> Signup and view all the answers

What is an example of epistasis involving sweet peas?

<p>Sweet peas show purple and white flower ratios.</p> Signup and view all the answers

What experiment demonstrated the involvement of two genes in sweet pea color?

<p>Bateson and Punnett Experiment</p> Signup and view all the answers

What is the dominant allele for purple flower color in sweet peas?

<p>C dominant allele</p> Signup and view all the answers

What is another allele for purple flower color in sweet peas?

<p>P dominant allele</p> Signup and view all the answers

What is the inactive X chromosome visible in females?

<p>Barr body</p> Signup and view all the answers

What is the term for stable gene expression changes without DNA sequence alteration?

<p>Epigenetics</p> Signup and view all the answers

What term encompasses transient changes in gene expression due to environmental factors?

<p>Gene Regulation</p> Signup and view all the answers

What is the phenomenon where epigenetic changes are passed from parents to offspring?

<p>Epigenetic inheritance</p> Signup and view all the answers

What is the random inactivation of one X chromosome in females?

<p>X inactivation</p> Signup and view all the answers

What is the term for female cats with patches of orange and black fur?

<p>Calico cats</p> Signup and view all the answers

What is an individual with cells genetically different due to X inactivation?

<p>Mosaic individual</p> Signup and view all the answers

What is the term for the cold temperature required for flowering in some plants?

<p>Vernalization</p> Signup and view all the answers

How are phenotypes shaped by environmental conditions?

<p>Environmental influence</p> Signup and view all the answers

What is the transmission of genes located outside the cell nucleus?

<p>Extranuclear inheritance</p> Signup and view all the answers

What is another name for extranuclear inheritance?

<p>Cytoplasmic inheritance</p> Signup and view all the answers

What do mitochondria and chloroplasts contain that allow them to have their own genomes?

<p>Organelle genomes</p> Signup and view all the answers

How are organelle genomes typically inherited?

<p>Maternal inheritance</p> Signup and view all the answers

What is an example of how mutations in the chloroplast genome can affect leaf color?

<p>Leaf Colour Example</p> Signup and view all the answers

What is present in a normal, green leaf?

<p>Normal chlorophyll</p> Signup and view all the answers

What is the result of a mutation that prevents chlorophyll synthesis?

<p>White Leaf</p> Signup and view all the answers

What type of leaf has a mixture of normal and mutant chloroplasts?

<p>Variegated leaf</p> Signup and view all the answers

What is the set of genes found in mitochondria called?

<p>Mitochondrial Genome</p> Signup and view all the answers

What do 24 genes in the mitochondrial genome encode?

<p>tRNA and rRNA Genes</p> Signup and view all the answers

What types of diseases can result from mutations in human mitochondrial genes, and how are these inherited?

<p>Mitochondrial Disease Inheritance</p> Signup and view all the answers

What is an inherited form of vision loss caused by mutations in mitochondrial genes?

<p>LHON</p> Signup and view all the answers

Can a male with mitochondrial disease pass the disease to his offspring?

<p>Mitochondrial Disease Transmission</p> Signup and view all the answers

What term describes the proportion of mutant mitochondria in an individual, and what is the typical threshold for disease symptoms?

<p>Mutation Load</p> Signup and view all the answers

What is the condition where different genes are close together on the same chromosome and tend to be transmitted as a unit?

<p>Gene linkage</p> Signup and view all the answers

What is a group of genes that usually stay together during meiosis?

<p>Linkage Group</p> Signup and view all the answers

What were Bateson & Punnett's crosses?

<p>Bateson &amp; Punnett's Crosses</p> Signup and view all the answers

What were the results of Bateson & Punnett's crosses in the F1 generation?

<p>F1 Generation Results</p> Signup and view all the answers

Who observed a similar deviation from expected ratios in Drosophila?

<p>Morgan's Fruit Flies</p> Signup and view all the answers

What process shuffles linked genes during meiosis?

<p>Crossing Over</p> Signup and view all the answers

Offspring that have different combinations of traits from the parental generation due to crossing over are known as what?

<p>Recombinants</p> Signup and view all the answers

What is the method for mapping genes along chromosomes based on recombination frequency?

<p>Linkage Mapping</p> Signup and view all the answers

Estimation of the arrangement and relative distances between linked genes based on recombination frequencies is called what?

<p>Genetic Mapping</p> Signup and view all the answers

What is the linear order of genes along a chromosome?

<p>Genetic Map</p> Signup and view all the answers

What is the formula used to calculate recombination frequency?

<p>Recombination Frequency Formula</p> Signup and view all the answers

What is a map unit or centiMorgan (cM) equivalent to?

<p>Map Unit</p> Signup and view all the answers

What is the example of a test cross used to calculate recombination frequency?

<p>Test Cross Example</p> Signup and view all the answers

How do you calculate recombination frequency in the test cross example?

<p>Recombination Frequency Calculation</p> Signup and view all the answers

Study Notes

Mendelian Inheritance Patterns

  • Inheritance: Transmission of traits from parents to offspring.
  • Pangenesis: Theory proposing "seeds" from all body parts transmit traits.
  • Blending Inheritance: Traits blend in offspring, not maintained separately.
  • Gregor Mendel: Father of modern genetics, studied pea plants.
  • Garden Pea (Pisum sativum): Plant used for Mendel's genetic studies.
  • Genetic Variation: Diverse observable characteristics in pea plants.
  • Self-Fertilization: Fertilization within the same plant.
  • Cross-Fertilization: Manual fertilization of plants to create hybrids.
  • Single Factor Crosses: Studies inheritance of variants of one trait only.
  • P Generation: True-breeding parents used in a genetic cross.
  • F1 Generation: First-generation offspring from the P generation.
  • F2 Generation: Offspring resulting from self-fertilized F1 hybrids.
  • Dominant Trait: Trait always expressed in F1 hybrids.
  • Recessive Trait: Trait hidden in F1, but expressed in F2 if inherited from both parents.
  • Alleles: Variant forms of a gene.
  • Law of Segregation: Alleles separate during gamete formation.
  • Genotype: Genetic makeup (combination of alleles) of an organism.
  • Phenotype: Observable characteristics or traits of an organism.
  • Homozygous: Two identical alleles for a gene.
  • Heterozygous: Two different alleles for a gene.
  • Punnett Square: Tool to predict possible genotypes and phenotypes in a genetic cross.
  • Testcross: Used to identify genotypes of unknown individuals.
  • Two-Factor Crosses: Studies inheritance of two different traits.
  • Independent Assortment: Alleles for different traits separate independently during gamete formation.
  • Pedigree Analysis: Study of traits across generations, analyzing familial relationships.
  • Mendelian Patterns: Simple patterns of inheritance for genetic diseases.
  • Mutant Allele: Altered gene version causing disease or traits.
  • Pedigree: Chart showing inheritance of a trait across generations.

Human Genetic Disorders

  • Cystic Fibrosis (CF): Recessive disorder affecting chloride channel function, causes thick mucus.
  • Heterozygous Carrier: Individual carrying one recessive allele but does not express the trait.
  • CFTR Gene: Gene that encodes the chloride channel affected in CF.
  • Huntington Disease: Dominant disorder causing progressive neurological problems, usually appearing in adulthood.
  • Autosomes: Chromosomes not involved in determining sex.
  • Sex Chromosomes: Chromosomes determining sex (e.g., X and Y).
  • XY System: Sex determination system in humans, males have XY, females have XX.
  • SRY Gene: Gene on Y chromosome triggering male development.
  • X-Linked Traits: Traits determined by genes on the X chromosome.
  • Hemizygous: Having one copy of a gene on the X chromosome (common in males).
  • X-Linked Recessive Disease: Disease more common in males since males only have one X chromosome.
  • Hemophilia A: X-linked recessive disorder causing excessive bleeding.
  • Morgan's Experiments: Experiments on fruit flies (Drosophila) demonstrating linkage and chromosome-based inheritance.

Non-Mendelian Inheritance

  • Wild-Type Allele: Most common allele in a population.
  • Mutant Allele: Less common allele due to mutation.
  • Loss of Function Mutation: Mutation resulting in decreased production or activity of a protein.
  • Dominant Phenotype: Phenotype expressed with only one copy of the dominant allele.
  • Dominant Allele: Allele that produces a functional protein even in a heterozygous state.
  • Recessive Allele: Allele that only produces a functional protein in the homozygous state.
  • Incomplete Dominance: Heterozygotes exhibit an intermediate phenotype.
  • Phenylketonuria (PKU): Heterozygotes have elevated phenylalanine levels but not severe symptoms.
  • Codominance: Both alleles are fully expressed in the phenotype of a heterozygote.
  • Norm of Reaction: Phenotype ranges depending on environmental conditions.
  • Complex Traits: Traits influenced by multiple genes and environmental factors.
  • Gene Interaction: Multiple genes influence a single trait.
  • Epistasis: One gene masks the expression of another gene.

Non-nuclear Inheritance

  • Extranuclear Inheritance/Cytoplasmic Inheritance: Inheritance of traits from genes located outside the cell nucleus (mitochondria and chloroplasts).
  • Organelle Genomes: Mitochondria and chloroplasts have their own genomes.
  • Maternal Inheritance: Organelle genomes are typically inherited from the mother.
  • Chloroplast mutations example: Mutations in the chloroplast genome influence chlorophyll synthesis affecting leaf colors.
  • Mitochondrial Genome: Mitochondrial genome contains genes for tRNA, rRNA and proteins involved in cellular respiration.
  • Mitochondrial diseases: Caused by mutations in mitochondrial genes, often inherited maternally.
  • LHON: An inherited form of vision loss caused by mitochondrial mutations.

Linkage and Mapping

  • Gene Linkage: Genes located close together on the same chromosome tend to be inherited together.
  • Linkage Groups: Genes on the same chromosome.
  • Bateson and Punnett's Crosses: First to show gene linkage through experiments with sweet peas.
  • Crossing Over: Exchange of genetic material between homologous chromosomes during meiosis.
  • Recombinants: Offspring with traits different from either parent in a genetic cross.
  • Linkage Mapping: Determining the relative distances between linked genes using recombination frequency.
  • Genetic Map : Linear order of genes on a chromosome.
  • Recombination Frequency: Measure of how frequently linked genes separate during meiosis.
  • Map Unit/CentiMorgan (cM): Unit used to measure genetic distance on a chromosome map (1% recombination frequency = 1 map unit).

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Explore the fundamental concepts of Mendelian inheritance, including key theories like pangenesis and blending inheritance. Discover how Gregor Mendel's experiments with garden peas laid the foundation for modern genetics. Test your knowledge on inheritance patterns, generations, and traits.

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