Genetics Overview and Exceptions to Mendel's Laws

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Questions and Answers

What does incomplete dominance refer to in genetics?

  • The phenotype is a blend of the two alleles. (correct)
  • Both alleles are completely expressed.
  • Only one allele is active while the other is silent.
  • One allele masks the expression of another.

Which of the following is true about codominance?

  • Only one allele is expressed at a time.
  • Both alleles are expressed simultaneously. (correct)
  • It occurs only in lethal alleles.
  • It results in a completely different phenotype.

What is an example of lethal alleles?

  • Alleles that never show phenotypic expression.
  • Alleles that cause disease only when inherited from one parent.
  • Alleles that express a dominant trait only.
  • Alleles that result in offspring mortality when homozygous. (correct)

How do genes interact to create more complex phenotypes?

<p>By influencing each other's expression or function. (B)</p> Signup and view all the answers

What is genomic imprinting?

<p>The process where only one allele of a gene is expressed depending on the parent of origin. (B)</p> Signup and view all the answers

Epigenetics primarily studies what aspect of genetics?

<p>Changes in gene expression that do not involve alterations to the underlying DNA sequence. (A)</p> Signup and view all the answers

What is the double helix structure of DNA formed from?

<p>Nucleotide bases with a sugar-phosphate backbone. (D)</p> Signup and view all the answers

Which component is NOT part of the DNA structure?

<p>Amino acids. (D)</p> Signup and view all the answers

What is the primary goal of pharmacogenetic testing?

<p>To tailor drug treatments based on genetic profiles (B)</p> Signup and view all the answers

Which of the following is a method used for delivering genes in gene therapy?

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

What is the focus of preimplantation genetic diagnosis?

<p>To screen embryos for genetic conditions before implantation (C)</p> Signup and view all the answers

How does cytochrome P450 contribute to pharmacogenomics?

<p>It metabolizes drugs, affecting their effectiveness and side effects (C)</p> Signup and view all the answers

What is one of the aims of utilizing genetic information in precision medicine?

<p>To customize treatment plans for individual patients (C)</p> Signup and view all the answers

What is the first step in the transcription process?

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

Which sugar is used in RNA that differs from DNA?

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

What base is found in RNA that is not present in DNA?

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

During which phase of transcription does RNA polymerase synthesize RNA?

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

What is added to the RNA during post-transcription processing?

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

Which term refers to the final step of transcription?

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

What does the process of translation involve?

<p>Converting RNA into proteins (B)</p> Signup and view all the answers

Which part of the process is responsible for reading the genetic code?

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

What is the typical size comparison of prokaryotic cells to eukaryotic cells?

<p>Prokaryotic cells are 10–100 times smaller than eukaryotic cells. (B)</p> Signup and view all the answers

What is the function of the plasma membrane in a cell?

<p>It acts as a barrier and regulates exchange with the environment. (D)</p> Signup and view all the answers

What is the term for alternative versions of a gene?

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

Which structure primarily protects prokaryotic cells from pressure changes?

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

How many copies of each gene do most individuals inherit from their parents?

<p>Two copies from each parent (D)</p> Signup and view all the answers

What is the difference between genes on sex chromosomes in males compared to females?

<p>Males have one copy of most X and Y genes (A)</p> Signup and view all the answers

What term describes the liquid interior of a cell?

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

What is a locus?

<p>The location of a gene on a chromosome (D)</p> Signup and view all the answers

What distinguishes eukaryotic cells from prokaryotic cells?

<p>Eukaryotic cells have a nucleus. (A)</p> Signup and view all the answers

How is the DNA organized in prokaryotic cells?

<p>In a single hoop-shaped piece. (B)</p> Signup and view all the answers

Human eye color is determined by how many genes?

<p>At least three genes on different chromosomes (A)</p> Signup and view all the answers

Which of the following statements about eukaryotic cells is correct?

<p>They can be either single-celled or multicellular organisms. (B)</p> Signup and view all the answers

What do phenotypes refer to?

<p>The physical traits expressed in an organism (D)</p> Signup and view all the answers

In which phase do most cells typically grow and prepare for division?

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

What is the role of the nucleus in eukaryotic cells?

<p>To house and protect the DNA. (A)</p> Signup and view all the answers

What term describes the life cycle of a typical somatic cell?

<p>Cell cycle (C)</p> Signup and view all the answers

Which of the following statements about the publication rights of the book is true?

<p>Reproduction is allowed only under specific sections of U.S. Copyright Act. (D)</p> Signup and view all the answers

What year was this edition of the book published?

<p>2024 (B)</p> Signup and view all the answers

What must one do to gain permission to reproduce parts of the book?

<p>Request permission from the Permissions Department of the publisher. (D)</p> Signup and view all the answers

Which entity is not mentioned as a trademark associated with the book?

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

Which of the following best describes the liability disclaimer presented by the publisher?

<p>No warranties are made regarding the completeness of the work. (C)</p> Signup and view all the answers

What is the main purpose of the disclaimer in this publication?

<p>To limit the publisher and authors' liability regarding the information. (A)</p> Signup and view all the answers

Which publication format is mentioned in the copyright statement?

<p>Multiple formats including electronic and print (C)</p> Signup and view all the answers

Who are the authors of the book?

<p>René Fester Kratz and Lisa J. Spock (C)</p> Signup and view all the answers

Flashcards

Genetics

The study of genes, heredity, and variation in living organisms.

Gene

A specific location on a chromosome that contains the genetic instructions for a trait.

Genome

The complete set of genetic instructions for an organism, encoded in DNA.

Alleles

Different forms of a gene, each carrying slightly different instructions for a trait.

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Genotype

The genetic makeup of an individual, the combination of alleles they possess.

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Phenotype

The observable physical characteristics of an individual, determined by their genotype and environmental influences.

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Heredity

The transfer of genetic information from parents to offspring.

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Mutations

Changes in the DNA sequence that can lead to variations in traits.

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Predictive testing

Using genetic testing to predict the likelihood of developing a disease or the risk of a particular condition based on family history and personal genetic makeup.

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Susceptibility testing

Testing for the presence of genes that increase the likelihood of developing a specific disease, even if the individual does not yet show symptoms.

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Preimplantation genetic diagnosis (PGD)

Genetic testing performed on embryos before implantation in in vitro fertilization (IVF), allowing parents to select embryos free from specific genetic disorders.

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Pharmacogenetic testing

The study of how a person's genes influence their response to medications, helping doctors personalize drug therapy.

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Gene therapy

A therapy that aims to cure or alleviate genetic disorders by replacing, modifying, or inactivating genes.

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Incomplete Dominance

A type of inheritance where neither allele is dominant, and the heterozygous phenotype is a blend of the two homozygous phenotypes.

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Codominance

A type of inheritance where both alleles are expressed equally in the heterozygote, resulting in a phenotype that shows both traits.

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Incomplete Penetrance

A situation where an allele is present but doesn't always produce its expected phenotype.

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Multiple Alleles

A gene having more than two possible alleles in a population.

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Lethal Allele

An allele that causes death when present in a homozygous state.

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Gene Interaction

Interactions between multiple genes influencing a single trait.

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Pleiotropy

A gene that influences multiple, seemingly unrelated traits.

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Linked Genes

Genes located close together on the same chromosome tend to be inherited together.

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Messenger RNA (mRNA)

A type of RNA that serves as a template for protein synthesis, carrying genetic information from DNA to ribosomes.

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Transcription

A process that involves copying genetic information from DNA into mRNA. This is the first step in gene expression.

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Ribonucleic Acid (RNA)

A single-stranded nucleic acid that plays a key role in gene expression.

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Uracil (U)

A nitrogenous base found in RNA, replacing thymine (T) in DNA. It pairs with adenine (A) during transcription.

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Promoter

A region of DNA that signals the start of a gene and where transcription begins.

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Terminator

A region of DNA that signals the end of a gene, where transcription ends.

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5' Cap

A modified guanine nucleotide added to the 5' end of mRNA during post-transcriptional processing. It protects the mRNA from degradation.

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Poly-A Tail

A sequence of adenine nucleotides added to the 3' end of mRNA during post-transcriptional processing. It helps with mRNA stability and translation.

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Plasma membrane

The boundary that separates a cell from its environment. It's a thin, flexible sheet of molecules that acts as a barrier, regulating the exchange of nutrients, water, and gases.

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Cell wall

A rigid outer layer that surrounds the plasma membrane of many prokaryotic cells, providing protection from pressure changes caused by water movement.

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Cytoplasm

The watery interior of a cell where the DNA and other cell machinery reside.

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Prokaryotic DNA

A single, circular piece of DNA found in the cytoplasm of prokaryotes.

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Eukaryotes

Organisms whose cells have a nucleus, which houses the DNA.

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Nucleus

The membrane-bound compartment in eukaryotic cells that safeguards the DNA.

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Chromosomes

Separate pieces of DNA found within the nucleus of eukaryotic cells.

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Homeostasis

The process by which organisms maintain a stable internal environment despite changes in the external environment.

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Locus

A specific location on a chromosome where a gene resides.

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Homologous chromosomes

A pair of chromosomes that carry the same genes but can have different alleles for those genes.

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Mitosis

The process of cell division that produces two identical daughter cells from a single parent cell.

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Somatic cell

A cell that is not a sex cell (sperm or egg); these cells make up your body's tissues and organs.

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Study Notes

Genetics Overview

  • Genetics, 4th edition, by René Fester Kratz and Lisa J. Spock, is published by John Wiley & Sons.
  • The book covers various aspects of genetics, including DNA structure, gene expression, genetic disorders, and applications of genetics in medicine.

Exceptions to Mendel's Laws

  • Incomplete dominance: Blending of traits (e.g., red and white flowers producing pink)
  • Codominance: Both traits expressed equally (e.g., AB blood type)
  • Incomplete penetrance: A genotype may not always produce its associated phenotype.
  • More than two alleles: Some genes have multiple different versions.
  • Lethal alleles: Alleles causing death before reproduction.
  • Gene interactions: Multiple genes influencing a single trait.
  • Genes in hiding: Certain genes only express a trait under specific conditions.
  • One gene with many phenotypes: A single gene can influence multiple traits.
  • Linked genes: Genes located close together on the same chromosome.
    • These are inherited together more often than expected by chance.
  • Epigenetics: Changes in gene expression without alterations to the DNA sequence.
  • Genomic imprinting: Expression of a gene depending on which parent it inherited from.
  • Anticipation: A genetic trait becoming more severe or appearing earlier in subsequent generations.
  • Environmental effects: Environmental factors influencing gene expression.

DNA Structure and Function

  • DNA structure: Double helix composed of nucleotides.
  • Nucleotides: Sugar, phosphate, and nitrogenous base (adenine, thymine, guanine, cytosine).
  • Different DNA varieties: Rolling circle and D-loop are examples.

Transcription: DNA to RNA

  • RNA structure: Similar to DNA except for a different sugar and uracil replacing thymine.
  • Transcription steps: Initiation, elongation, termination.
  • Post-transcription processing: Adding a cap and tail, editing the message.

Translation: RNA to Protein

  • Genetic code: Three-nucleotide codons specify amino acids.
  • Degenerate code: Multiple codons can code for the same amino acid.
  • Translation steps: Initiation, elongation, termination.

Protein Function

  • Proteins: Perform various functions in the body.
  • Protein structure: Determined by the sequence of amino acids.

Genetic Testing and Applications

  • Predictive testing: Identifies individuals at risk for developing genetic diseases.
  • Susceptibility testing: Determines an individual's predisposition to developing a particular disease.
  • Preimplantation genetic diagnosis (PGD): Testing embryos before implantation to identify genetic abnormalities.
  • Pharmacogenetic testing: Testing to determine how a person's genes affect their response to drugs.

Treating Genetic Disorders

  • Gene therapy: Introducing healthy genes to treat genetic diseases.
  • Gene therapy methods: Using vectors like viruses to deliver healthy genes into cells.
  • Precision medicine: Utilizing genetic information to tailor treatment to individual needs.
  • Pharmacogenomics: Studying how a person's genes influence their response to drugs.
    • Drug metabolism: How cytochrome P450 enzymes affect drug processing.
    • Reducing treatment side effects.
    • Increasing treatment effectiveness.

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