Mendelian Inheritance and Patterns Quiz

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Questions and Answers

In autosomal dominant inheritance, what is the likelihood that a child will inherit the disorder if one parent is affected and heterozygous?

  • 75%
  • 25%
  • 100%
  • 50% (correct)

Which of the following is NOT a characteristic of autosomal dominant inheritance?

  • Affected individuals typically have an affected parent
  • May skip generations due to sporadic mutations
  • Each gamete carries one mutant and one normal allele
  • Homozygous genotype is common and less severe (correct)

In the context of autosomal recessive inheritance, what must be true about the parents of an affected child?

  • Neither parent can pass on the recessive allele
  • Parents must have a homozygous dominant genotype
  • Both parents are carriers of the recessive mutant allele (correct)
  • At least one parent must express the disorder

What might cause an autosomal dominant trait to appear in an individual without an affected parent?

<p>A fresh mutation in a gamete (C)</p> Signup and view all the answers

Which condition exemplifies autosomal dominant inheritance?

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

What does Mendelian inheritance primarily rely on?

<p>A single gene with two alleles (A)</p> Signup and view all the answers

Which tool is best used to visualize the inheritance of a trait across generations?

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

Which of the following best describes the laws governing Mendelian inheritance?

<p>Segregation and independent assortment (A)</p> Signup and view all the answers

What is a primary characteristic of autosomal dominant disorders?

<p>An affected individual has at least one affected parent (C)</p> Signup and view all the answers

How can the recurrence risk of monogenic autosomal disorders be effectively calculated?

<p>Using a Punnett square to determine potential genotype ratios (B)</p> Signup and view all the answers

Flashcards

Mendelian Inheritance

Inheritance of traits controlled by a single gene with two alleles, one potentially dominant over the other.

Autosomal Inheritance

Inheritance patterns of traits controlled by genes on non-sex chromosomes (autosomes).

Pedigree

A chart illustrating family history and inheritance of traits.

Punnett Square

A chart for predicting offspring genotypes from parent genotypes in simple inheritance.

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Recurrence Risk

The probability of a trait reappearing in a family.

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Autosomal Dominant (AD) Inheritance

A mode of inheritance where a single copy of a mutated gene is enough to cause the trait or disorder. The affected parent usually passes on the mutated gene to their offspring.

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New Mutation in AD Inheritance

A spontaneous change in a gene that occurs in the germ cells of a parent who does not have the disease, but passes on the mutated gene to their offspring, leading to the appearance of the disease in the child.

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Variable Expressivity in AD Inheritance

The degree of severity or symptoms of a disease can differ between individuals with the same mutated gene. Some individuals may have mild symptoms while others have severe symptoms.

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Autosomal Recessive (AR) Inheritance

A mode of inheritance where two copies of a mutated gene are required to cause the trait or disorder. Individuals who carry one copy of the mutated gene are called carriers and usually don't have the disease themselves.

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Obligate Heterozygote Carrier

A parent of a child with an autosomal recessive disorder who must carry one copy of the mutated gene, even though they themselves do not show the disease.

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Study Notes

Mendelian Inheritance

  • Mendelian inheritance describes the inheritance of traits controlled by a single gene with two alleles.
  • Autosomal inheritance refers to traits controlled by genes on autosomes (non-sex chromosomes).
  • Sex-linked inheritance refers to traits controlled by genes on sex chromosomes.
  • Mendelian inheritance follows the laws of segregation and independent assortment. Genes inherited from each parent segregate into gametes equally.

Studying Inheritance Patterns

  • Pedigree: A chart that represents family history and relationships, using symbols.
    • Shows relationships and identifies individuals with a trait.
    • Shows how a trait is passed through generations.
    • Determines the mode of inheritance (e.g., autosomal dominant, recessive, X-linked).
    • Calculates risk of a trait for family members.

Autosomal Dominant Inheritance

  • A trait that manifests in the heterozygous state (one abnormal allele and one normal allele).
  • Affects males and females equally.
  • Parents with the trait often pass it to their children.
  • Vertical transmission of the trait through generations is common.
  • Possible for affected individual to inherit mutant allele from new mutation.
  • Affected children usually are heterozygotes.

Autosomal Recessive Inheritance

  • Both alleles must be abnormal for the trait to manifest.
  • Equally affects males and females.
  • Often skips generations.
  • Usually appears in children of unaffected parents who are carriers (heterozygotes).
  • High chance of appearing when consanguineous (close blood relatives) mating occurs.

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