Mendelian Genetics Terms and Definitions
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Questions and Answers

What does an affected female express in the context of Mendelian genetics?

  • An unidentified trait
  • A recessive trait only
  • A non-functional gene product
  • The trait in question (correct)

    • What does the term 'progeny' refer to in Mendelian genetics?

  • The trait being studied
  • The parents of an affected individual
  • A genetic mutation
  • The offspring of a mating (correct)

    • Which term describes individuals in a generation in Mendelian genetics?

  • Alphabetical Letters
  • Roman Numerals
  • Sequential Orders
  • Arabic Numbers (correct)

    • What is gene expression primarily concerned with?

    <p>Producing a gene's functional product</p> Signup and view all the answers

    In shorthand genetic symbols, what does an unaffected male indicate?

    <p>Does not express the trait in that male context</p> Signup and view all the answers

    What type of mutation results in a change to a stop codon?

    <p>Nonsense mutation</p> Signup and view all the answers

    Which type of mutation alters the reading frame of the gene?

    <p>Frameshift mutation</p> Signup and view all the answers

    What is a characteristic of a null allele?

    <p>Has no functional activity</p> Signup and view all the answers

    How does a hypermorphic allele differ from a neomorphic allele?

    <p>Hypermorphic alleles have increased functional activity, while neomorphic alleles have new functional activity.</p> Signup and view all the answers

    What defines a temperature-sensitive allele?

    <p>It is functional only at certain temperatures.</p> Signup and view all the answers

    What is haploinsufficiency?

    <p>Two copies of a functional allele are needed for wild-type phenotype.</p> Signup and view all the answers

    What describes a dominant negative allele?

    <p>It interferes with the function of the wild-type product.</p> Signup and view all the answers

    What type of mutation includes both insertion and deletion of nucleotides?

    <p>Indel mutation</p> Signup and view all the answers

    What is the primary function of a dominant epistatic gene?

    <p>To mask the expression of alleles at a different locus</p> Signup and view all the answers

    When would the allele 'B' express its phenotype, given that 'A' is present?

    <p>When 'A' can express itself in the presence of 'b'</p> Signup and view all the answers

    What is the characteristic phenotypic ratio produced by dominant epistasis?

    <p>12:3:1</p> Signup and view all the answers

    What is co-dominance in genetics?

    <p>Both phenotypes associated with each allele are expressed in the heterozygote.</p> Signup and view all the answers

    What describes penetrance in genetics?

    <p>The proportion of individuals with a specific genotype that exhibit the associated phenotype.</p> Signup and view all the answers

    What is defined as complementary gene action?

    <p>Two genes that are required together to produce a specific phenotype</p> Signup and view all the answers

    Which term refers to the phenomenon where a single gene affects multiple traits?

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

    What results from redundancy in genetic functions?

    <p>Multiple genes can perform the same function</p> Signup and view all the answers

    Which statement is true regarding modifier genes?

    <p>They modify the phenotypic effect of alleles of a second gene</p> Signup and view all the answers

    What does incomplete dominance in genetics mean?

    <p>The phenotype of the heterozygote is intermediate between the two homozygous phenotypes.</p> Signup and view all the answers

    What is reverse genetics primarily used for?

    <p>To analyze mutants and confirm the function of a specific gene.</p> Signup and view all the answers

    What does a complementation group consist of?

    <p>Recessive alleles of the same gene</p> Signup and view all the answers

    What is the purpose of genetic complementation analysis?

    <p>To identify mutations that produce a wild-type phenotype</p> Signup and view all the answers

    How does environmental interaction influence phenotypes?

    <p>It can alter the genetic expression, leading to different phenotypic ratios.</p> Signup and view all the answers

    What effect does a lethal mutation typically have on genetic crosses?

    <p>It modifies the expected Mendelian ratios in the offspring.</p> Signup and view all the answers

    What is the CRISPR/Cas9 system used for?

    <p>To edit specific gene sequences within an organism's genome.</p> Signup and view all the answers

    What does CRISPR stand for?

    <p>Clustered Regularly Interspaced Short Palindromic Repeats</p> Signup and view all the answers

    Which of the following best describes recessive epistasis?

    <p>Recessive alleles at one locus mask the expression of another locus.</p> Signup and view all the answers

    What phenotypic ratio is typically associated with recessive epistasis?

    <p>9:3:4</p> Signup and view all the answers

    How can genetic interactions indicate gene interaction pathways?

    <p>By altering Mendelian phenotype ratios in crosses.</p> Signup and view all the answers

    What is indicated when observing a 12:3:1 phenotypic ratio?

    <p>Dominant epistasis occurs.</p> Signup and view all the answers

    In genetic interactions, what does the term 'epistasis' refer to?

    <p>The interaction of two genes resulting in a modified phenotype.</p> Signup and view all the answers

    Which of the following is NOT a purpose of genetic screening?

    <p>Assessing environmental mutation rates</p> Signup and view all the answers

    What do upstream genes indicate in an epistatic interaction?

    <p>They mask the phenotypic effects of downstream genes.</p> Signup and view all the answers

    Study Notes

    Mendelian Genetics Terms and Definitions

    • Unaffected male: does not express the trait
    • Unaffected Female: does not express the trait
    • Affected Male: expresses the trait
    • Affected Female: expresses the trait
    • Mating: the act of breeding between two organisms
    • Progeny: offspring produced from the mating
    • Deceased: individual has died
    • Date of death: denoted by the date D. 0000
    • Unspecified Sex: individual's sex is unknown
    • Parents closely related by blood: parents are related (for example, first cousins)
    • Adoption: the act of taking another person's child into one's family
    • Siblings: brothers and sisters
    • Roman numerals: indicate generational numbers (I, II, III, etc.)
    • Arabic Numbers: indicate individual within their generation (1, 2, 3, etc.)

    Gene Expression and Allele Types

    • Gene product: the functional molecule encoded by a gene, typically a protein or RNA
    • Gene expression: process of producing a gene's functional product, which involves transcription and translation
    • Allele: different versions of a gene
    • Substitution mutation: a change in a single nucleotide
    • Indel mutation: a short insertion or deletion of nucleotides, including a single nucleotide
    • Missense mutation: results in a single amino acid change
    • Nonsense mutation: changes an amino acid encoding codon to a stop codon
    • Frameshift mutation: insertion or deletion that alters the reading frame, affecting downstream amino acids
    • Coding mutation: mutations within the coding sequence of a gene
    • Regulatory mutation: affects the activity of regulatory elements like promoters, enhancers, or splicing, altering gene expression
    • Loss of function allele: reduces or eliminates the functional product
    • Null allele or amorphic allele: no functional activity
    • Partial loss of function / hypomorphic allele: reduced functional activity
    • Conditional allele: only lose function under specific conditions, such as temperature-sensitive alleles
    • Temperature-sensitive allele: functional only at certain temperatures
    • Gain of function allele: increases or changes the functional activity
    • Hypermorphic allele: increased functional activity
    • Neomorphic allele: new functional activity, or the same product is expressed in a new location or time
    • Dominant negative allele: a product that interferes with the wild-type product's function
    • Haplosufficiency: a gene for which a single functional allele produces sufficient activity for a wild-type phenotype
    • Haploinsufficiency: a gene that requires two functional alleles to produce a wild-type phenotype
    • Co-dominance: both alleles' phenotypes are expressed in the heterozygote
    • Incomplete dominance: heterozygote phenotype is an intermediate between the two homozygotes
    • Lethal mutation: can alter Mendelian ratios in crosses
    • Pleiotropy: one allele or gene can produce multiple phenotypes

    Genetic Interactions

    • Genetic interaction: occurs when alleles of different genes interact to produce a phenotype
    • Epistasis: one gene's alleles mask the phenotypic effects of a second gene
    • Recessive epistasis: a recessive allele masks the expression of another locus
    • Dominant epistasis: a dominant allele masks the expression of another locus
    • Complementary gene action (mutual recessive epistasis): both genes are required for a correct phenotype
    • Redundancy (mutant dominant epistasis): multiple genes perform the same function
    • Modifier gene: alleles that modify another gene's phenotypic effect
    • Genetic complementation: observation of a wild-type phenotype when two different mutations are present in an organism
    • Genetic complementation analysis: comparing mutants to determine if they complement each other, producing wild-type

    Forward Genetic Screens

    • Purpose: identify genes involved in a specific process or trait
    • Mutagenesis: creating mutations using mutagens
    • Mutagens: agents that cause mutations including radiation and chemicals
    • Screening for recessive mutations: identifying mutations that only show their phenotype when homozygous
    • Screening for dominate mutations: identifying mutations that show phenotype in both homozygotes and heterozygotes

    CRISPR & Reverse Genetics

    • CRISPR/Cas9: a bacterial immune system adapted for targeted genome editing
    • Reverse genetics: starting with a gene and producing mutations to analyze their effect on phenotypes

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    Mendelian Genetics Terms PDF

    Description

    Test your understanding of the key terms and definitions in Mendelian genetics with this comprehensive quiz. From affected individuals to gene expression, evaluate your knowledge of genetic concepts and terminology. Perfect for students studying genetics or biology.

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