Genetics: Key Concepts and Terms

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Questions and Answers

In genetics, what distinguishes an allele from a gene?

  • A gene is a reproductive cell, while an allele is a structural component of DNA.
  • A gene is the outward appearance or characteristic, while an allele is responsible for the phenotype.
  • An allele is the physical location of a gene on a chromosome.
  • An allele represents a specific version of a gene, while a gene is a unit of hereditary material. (correct)

How do autosomal and sex-linked disorders differ in their inheritance patterns?

  • Autosomal disorders are located on non-sex chromosomes, while sex-linked disorders are located on sex chromosomes. (correct)
  • Sex-linked disorders are located on autosomes and affect both sexes equally, while autosomal disorders are on sex chromosomes.
  • Autosomal disorders are only expressed in males, while sex-linked disorders are expressed in females.
  • Autosomal disorders require only one affected allele for expression while sex-linked require two.

If a genetic disorder is autosomal recessive, what must be true of the parents of an affected individual?

  • Only one parent must have the disorder.
  • Both parents must have the disorder.
  • One parent must have the disorder, and the other must be a carrier.
  • Both parents must be carriers of at least one affected allele. (correct)

What genetic scenario would result in a child inheriting an autosomal dominant disorder?

<p>One parent is heterozygous and the other is homozygous recessive. (A)</p> Signup and view all the answers

What is the key difference between a haploid and a diploid cell in terms of chromosome number?

<p>Haploid cells contain one set of chromosomes, while diploid cells contain two sets of chromosomes. (C)</p> Signup and view all the answers

How does the concept of dominant and recessive alleles explain why some individuals can be carriers of a genetic disorder without expressing it?

<p>Dominant alleles mask the effects of recessive alleles in heterozygotes, so carriers do not show the disorder. (A)</p> Signup and view all the answers

How does the relationship between genotype and phenotype relate to the expression of genetic traits?

<p>The genotype is responsible for observable traits (phenotype). (A)</p> Signup and view all the answers

What is the role of chromosomes in heredity?

<p>Chromosomes are structures that contain tightly coiled DNA and carry genetic information. (A)</p> Signup and view all the answers

How would you describe a homozygous individual?

<p>An individual with two of the same alleles for a specific gene. (A)</p> Signup and view all the answers

Which process results in gametes that are haploid?

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

Flashcards

Gametes

Reproductive cells or sex cells

Chromosomes

Structures of DNA tightly coiled around proteins.

Gene

A unit of hereditary material

Allele

A version of a gene

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Phenotype

Outward appearance or characteristics depending upon genes

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Genotype

Responsible for the phenotype

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Homozygous

Two of the same alleles

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Heterozygous

Two different alleles

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Dominant

Influences phenotype

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Recessive

Not expressed in the phenotype

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Study Notes

  • The study of genetics includes several key concepts.

Common Genetics Terms

  • Gametes are reproductive or sex cells.
  • Chromosomes are DNA structures tightly coiled around proteins.
  • A gene is a unit of hereditary material.
  • Alleles are different versions of a gene.
  • Phenotype is the outward appearance or characteristics of an organism based on its genes, such as having red hair.
  • Genotype is responsible for the phenotype.
  • Homozygous refers to having 2 of the same alleles.
  • Heterozygous refers to having 2 different alleles.
  • A dominant allele influences the phenotype.
  • A recessive allele is not expressed in the phenotype.
  • Haploid refers to one set of chromosomes and is found in egg and sperm cells.
  • Diploid refers to two sets of chromosomes.

Autosomal Recessive vs. Autosomal Dominance

  • Common autosomal disorders, which occur on autosomes (non-sex chromosomes):
  • Cystic Fibrosis (CF)
  • Huntington's Disease (HD)
  • Sickle Cell Disease (SCD)
  • Sex-linked disorders occur on sex chromosomes, such as hemophilia.
  • In autosomal recessive inheritance, sufferers must inherit two alleles to have the disorder, with healthy being dominant and the disorder being recessive.
    • Examples of autosomal recessive disorders include sickle cell disease, phenylketonuria (PKU), cystic fibrosis, and albinism.
  • In autosomal dominant inheritance, sufferers only need to inherit one allele to have the disorder, with the disorder being dominant and healthy being recessive.
    • Examples of autosomal dominant disorders include Huntington's disease (HD) and familial hypercholesterolemia (FH).

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