Mendelian Genetics
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Questions and Answers

Which term refers to the physical appearance or measurable characteristic of an organism, resulting from its genotype and interaction with the environment?

  • Phenotype (correct)
  • Heterozygote
  • Homozygote
  • Genotype

What is the term for the two sets of chromosomes found in most cells?

  • Haploid
  • Diploid (correct)
  • Polymorphism
  • Allele

In Mendelian inheritance, what is the term for a gene copy that can vary slightly in its DNA sequence?

  • Homozygote
  • Phenotype
  • Genotype
  • Allele (correct)

What is the term for a mutation of a single copy of a gene that causes a disease phenotype?

<p>Dominant Negative Effect (B)</p> Signup and view all the answers

Which type of inheritance pattern is characterized by a 'vertical' pattern in the pedigree, where the phenotype is seen in every generation?

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

In an autosomal recessive inheritance pattern, when two carriers mate, what is the probability of having an affected offspring?

<p>1/4 (C)</p> Signup and view all the answers

What is the term used to describe the proportion of individuals with a given genotype who show the associated phenotype?

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

What is the term used to describe the situation where different genetic defects produce identical or similar clinical phenotypes?

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

Which of the following best describes autosomal dominant inheritance?

<p>It is a type of inheritance where the disease phenotype is expressed in individuals who inherit one copy of the mutated gene. (D)</p> Signup and view all the answers

Which of the following best describes autosomal recessive inheritance?

<p>It is a type of inheritance where the disease phenotype is only expressed in individuals who inherit two copies of the mutated gene. (A)</p> Signup and view all the answers

What is genetic heterogeneity?

<p>It is the presence of different genes at different loci on homologous chromosomes. (D)</p> Signup and view all the answers

Flashcards

Phenotype

The observable physical characteristics of an organism, determined by its genotype and environmental influences.

Diploid

Having two sets of chromosomes.

Allele

Different forms or variations of a gene.

Dominant Negative Effect

Mutation of a single gene copy causing a disease phenotype.

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Autosomal Dominant

Inheritance pattern where one mutated gene copy causes a phenotype.

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Autosomal Recessive Inheritance Probability

If two carriers of an autosomal recessive trait mate, the probability of having an affected offspring is 1/4.

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Penetrance

Proportion of individuals with a specific genotype showing the associated phenotype.

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Genetic Heterogeneity

Different genetic defects can cause similar clinical phenotypes.

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Autosomal Dominant Inheritance

Inheritance where a single mutated gene copy causes a trait to manifest.

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Autosomal Recessive Inheritance

Inheritance where two mutated gene copies are needed to manifest the trait.

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Genetic Heterogeneity Definition

Different genes at different locations on chromosomes can cause similar phenotypes.

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