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 (A)</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 (C)</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 (B)</p> Signup and view all the answers

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

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

What type of mutation may cause frameshift mutation?

<p>INDELS (C)</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 (D)</p> Signup and view all the answers

What do SNP and INDELS give rise to?

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

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

<p>Variation (A)</p> Signup and view all the answers

Which type of cells are typically used for genetic testing?

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

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

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

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

<p>Expand (B)</p> Signup and view all the answers

Genetic anticipation is a phenomenon characterized by:

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

Which of the following is NOT associated with Down syndrome?

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

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