Understanding Deleterious Alleles and Genetic Imprinting
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Questions and Answers

What term describes the situation when an individual carries a deleterious allele but does not display symptoms of the associated disease?

  • Incomplete penetrance (correct)
  • Genetic anticipation
  • Imprinting
  • Founder effect
  • Which of the following diseases is caused by a mutation in the paternal chromosome at the AS/PWS locus on chromosome 15?

  • Phenylketonuria
  • Down Syndrome
  • Angelman Syndrome
  • Prader Willi Syndrome (correct)
  • In genetic imprinting, which parent's chromosome mutation leads to Angelman Syndrome?

  • Both paternal and maternal chromosomes
  • Neither paternal nor maternal chromosomes
  • Paternal chromosome
  • Maternal chromosome (correct)
  • What molecular process can prevent a gene from being transcribed by adding methyl groups to specific nucleotides?

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

    Which term refers to the phenomenon where methylation marks are removed and added back during gametogenesis?

    <p>Methylation reprogramming</p> Signup and view all the answers

    In genetics, what term describes the situation where certain genes are only expressed based on their parental origin?

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

    Which type of mutation may become an allele in the population?

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

    What type of mutation may cause frameshift mutation?

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

    Which term describes a single nucleotide change that can sometimes be present at high frequency in a population?

    <p>Single nucleotide polymorphism</p> Signup and view all the answers

    What do SNP and INDELS give rise to?

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

    Which term describes the variation caused by a combination of different alleles?

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

    Which type of cells are typically used for genetic testing?

    <p>White blood cells</p> Signup and view all the answers

    Individuals with (CGG)n repeat of over 200 are more likely to exhibit:

    <p>Somatic mosaicism</p> Signup and view all the answers

    Imprinting characteristics suggest that alleles transmitted from females are more likely to:

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

    Genetic anticipation is a phenomenon characterized by:

    <p>Increasing severity of a genetic disorder in successive generations</p> Signup and view all the answers

    Which of the following is NOT associated with Down syndrome?

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

    In the context of genetic diseases, incomplete penetrance refers to:

    <p>The presence of a genetic mutation that does not result in the expected phenotype</p> Signup and view all the answers

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