Non-Mendelian Inheritance Overview
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Questions and Answers

Which condition is characterized by myopathy, lactic acidosis, and stroke-like episodes?

  • Leigh Syndrome
  • MELAS (correct)
  • Kearns-Sayre syndrome
  • MERF

    • What type of mutations are commonly associated with Pearson Syndrome?

  • Large deletions (correct)
  • Heteroplasmic mutations in ATPase
  • Homoplasmic mutations in rRNA
  • Point mutations in tRNA

    • Which disorder is linked to mutations in the 12S rRNA gene?

  • Leigh Syndrome
  • MELAS
  • Deafness (correct)
  • Kearns-Sayre syndrome

    • What inheritance pattern is most likely associated with the majority of mitochondrial disorders?

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

    Which of the following is a common congenital malformation associated with multifactorial inheritance?

    <p>Congenital heart defects</p> Signup and view all the answers

    What is a consequence of reduced penetrance in genetic inheritance?

    <p>Symptoms of the condition may not appear even if the genotype is present.</p> Signup and view all the answers

    Which of the following best describes 'variable expressivity'?

    <p>Differences in severity of symptoms among individuals with the same genotype.</p> Signup and view all the answers

    What is a unique characteristic of mitochondrial disorders?

    <p>Inheritance is primarily maternal due to mitochondrial DNA coming from the oocyte.</p> Signup and view all the answers

    In what way does uniparental disomy affect genetic inheritance?

    <p>It can result in imprinting disorders due to inheriting two copies of a chromosome from one parent.</p> Signup and view all the answers

    Which of the following describes the concept of 'anticipation' in genetic disorders?

    <p>Increased severity of symptoms with each successive generation.</p> Signup and view all the answers

    What distinguishes co-dominancy from traditional dominant and recessive inheritance?

    <p>Both alleles are fully expressed in the phenotype of heterozygotes.</p> Signup and view all the answers

    How can mosaicism affect the expression of genetic disorders?

    <p>It can lead to a milder form of the disorder in some tissues.</p> Signup and view all the answers

    Which statement about genomic imprinting is true?

    <p>The expression of certain genes depends solely on whether they are inherited from the mother or the father.</p> Signup and view all the answers

    What is the significance of homoplasmy and heteroplasmy in mitochondrial genetics?

    <p>Heteroplasmy indicates a mixture of normal and mutated mitochondria within cells.</p> Signup and view all the answers

    Study Notes

    Non-Mendelian Inheritance

    • Exceptions to Mendelian Inheritance:

      • Epigenetics
      • Genomic Imprinting and Imprinting Disorders
      • Uniparental Dysomy
      • Triple Repeat Disorders
      • Mosaicism
      • Mitochondrial Disorders
      • Multifactorial Inheritance

    • Reduced Penetrance:

      • Phenotypically normal family members may not transmit the phenotype to their children
      • Exceptions to typical Mendelian Inheritance patterns
      • Variable expressivity
        • Incomplete penetrance (graphics showing individuals with same genotype but different phenotypes)

    • Variable Expressivity:

      • Individuals with the same genotype may have different phenotypes
      • Shows a wide range of severity among affected individuals
      • Illustrated with specific conditions (e.g., neurofibromatosis)

    • Co-dominance:

      • Blood type inheritance: A, B, AB, O are codominant alleles
      • Both alleles are expressed

    • Skewed X Inactivation:

      • In X-linked recessive disorders, affected females can occur
      • Due to an uneven inactivation of the X chromosome

    • Genomic Imprinting:

      • Genes expressed differentially based on parental origin
      • Impacts traits like Prader-Willi syndrome and Angelman syndrome
      • Both disorders are linked to the same region on chromosome 15

    • Uniparental Disomy:

      • Offspring inherit two copies of a chromosome from one parent
      • Can lead to disorders

    • Triple Repeat Disorders:

      • Associated with expansions in specific triplet repeats in genes
      • Examples include Fragile X syndrome, Huntington's disease, and myotonic dystrophy
      • Genetic anticipation( earlier onset and increased severity) is a key aspect of these disorders

    • Mosaicism:

      • Presence of different cell lines within an individual due to cell division errors
      • Can affect single-gene disorders
      • Types: Somatic, germline, and combined mosaicism

    • Mitochondrial Disorders:

      • Inherited maternally
      • Caused by mutations in mitochondrial DNA(mtDNA)
      • Different mtDNA levels and variants cause different tissue and phenotypic manifestations

    • Multifactorial Inheritance:

      • Caused by a combination of genetic and environmental factors
      • Examples include congenital heart defects, neural tube defects, pyloric stenosis, and common diseases
      • Environmental factors affect phenotype based on genetic predisposition
      • Single nucleotide polymorphism(SNP) are a type of genetic variant that is common within the population

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    Description

    Explore the complexities of non-Mendelian inheritance, including concepts such as epigenetics, genomic imprinting, and co-dominance. This quiz delves into reduced penetrance and variable expressivity, highlighting how individuals with the same genotype can exhibit different phenotypes. Understand these exceptions to traditional Mendelian patterns and their implications in genetics.

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