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Extensions of Mendelian Genetics

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  • What are alleles?

    Alleles are alternative forms of a gene that can produce different phenotypes.

  • What is the wild-type allele?

    The wild-type allele is the allele that occurs most frequently in nature and is usually dominant.

  • How are dominant and recessive alleles represented?

    Dominant alleles are shown by italic uppercase letters (e.g., D), recessive alleles by italic lowercase letters (e.g., d), and wild-type alleles by italic letters with a superscript + (e.g., e+).

  • What is incomplete dominance?

    Incomplete dominance occurs when the heterozygote phenotype is intermediate between the two homozygotes, showing partial dominance.

  • What is codominance?

    Codominance is when both alleles in a heterozygote are fully expressed, such as in the ABO blood group system.

  • What is heterozygote advantage?

    Heterozygote advantage occurs when heterozygous individuals have greater reproductive success than either homozygote, e.g., sickle-cell trait provides malaria resistance.

  • What are lethal alleles?

    Lethal alleles are mutations in essential genes that can cause death, often inherited recessively where homozygous individuals do not survive.

  • What is epistasis?

    Epistasis is when alleles of one gene mask the phenotypic effects of alleles of another gene.

  • What is complementation analysis?

    Complementation analysis determines if two mutations causing similar phenotypes are in the same gene or different genes by crossing mutants.

  • Define pleiotropy.

    Pleiotropy is when a single gene affects multiple phenotypic traits, such as Marfan syndrome.

  • What are modifier genes?

    Modifier genes are alleles of one gene that alter the phenotypic expression of alleles of another gene.

  • What is gene redundancy?

    Gene redundancy occurs when multiple genes perform the same function, so loss of one gene has no phenotypic effect.

  • What is X-linkage?

    X-linkage refers to genes located on the X chromosome, showing distinct inheritance patterns, especially in males who are hemizygous.

  • How do X-linked recessive traits express differently in males and females?

    Males express X-linked recessive traits if they inherit one mutant allele; females must be homozygous recessive to express the trait, otherwise they are carriers.

  • What is sex-limited inheritance?

    Sex-limited inheritance means a phenotype is expressed only in one sex, despite both sexes carrying the genotype.

  • What is sex-influenced inheritance?

    Sex-influenced inheritance means the phenotype expression is influenced by the individual's sex but can occur in both sexes.

  • What is penetrance?

    Penetrance is the percentage of individuals with a genotype who actually express the associated phenotype.

  • What is expressivity?

    Expressivity is the degree or range of expression of a mutant phenotype among individuals with the same genotype.

  • How can the environment affect phenotypic expression?

    Environmental factors can influence phenotypes, such as temperature-sensitive alleles affecting coat color in arctic foxes or Himalayan rabbits.

  • What is a conditional lethal allele?

    A conditional lethal allele causes death only under certain environmental conditions, like temperature-sensitive lethals in Drosophila.

  • Explain the Manx cat inheritance pattern.

    The Manx cat has a dominant mutation causing tail shortening in heterozygotes but is lethal in homozygotes, resulting in a 1:2 ratio of viable offspring.