Mutation Classification and Types

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to Lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is a spontaneous mutation?

  • A mutation that occurs randomly and naturally (correct)
  • A mutation caused by chemical mutagens
  • A mutation induced by radiation
  • A mutation that always results in a new function

Induced mutations can result from exposure to environmental factors known as mutagens.

True (A)

Name one type of mutagen that can induce mutations.

Ultraviolet radiation or chemical mutagens (such as mustard gas, etc.)

A mutation that occurs in a gamete may produce a new characteristic that can be ______.

<p>inherited</p> Signup and view all the answers

Match the type of mutation with its description:

<p>Point mutation = A change in a single nucleotide Chromosomal mutation = A change involving larger segments of DNA Spontaneous mutation = A mutation that occurs naturally Induced mutation = A mutation caused by external factors</p> Signup and view all the answers

Which type of radiation can act as a mutagen?

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

Most mutations are beneficial and enhance the organism's function.

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

How often does a human exhibit a spontaneous gene mutation per gamete per gene?

<p>10^-10 to 10^-8 mutations</p> Signup and view all the answers

Which of the following is an example of a transition mutation?

<p>A to G (C), T to C (D)</p> Signup and view all the answers

Transversions occur when a purine is converted into another purine.

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

Name one type of chemical mutagen.

<p>Alkylating agent or base analogue</p> Signup and view all the answers

The mutation that results from a single base being exchanged with another is called a ______ mutation.

<p>point</p> Signup and view all the answers

Which of the following correctly describes a missense mutation?

<p>Alters one amino acid in the resulting polypeptide (C)</p> Signup and view all the answers

Base analogues like 5-bromouracil can mutate DNA only when incorporated into replicating DNA.

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

What type of mutation results in a codon being changed to a stop codon?

<p>Nonsense mutation</p> Signup and view all the answers

What is an example of a condition related to gene duplication that can result in abnormal hemoglobin?

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

Aneuploidy occurs when one or more chromosomes are added or missing from a normal set.

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

What is the term for the phenomenon when homologous chromosomes fail to segregate during meiosis?

<p>non-disjunction</p> Signup and view all the answers

Wheat is an example of a ________ organism because it has multiple copies of its genome.

<p>hexaploid</p> Signup and view all the answers

Match the following terms with their definitions:

<p>Aneuploidy = Missing or having an unusual number of chromosomes Euploidy = A condition with a complete set of chromosomes Polyploidy = Organisms with more than two sets of chromosomes Pseudogene = Non-functional gene related to a functional gene</p> Signup and view all the answers

Which of the following statements about gametes produced during aneuploidy is true?

<p>They can have too many or too few chromosomes. (D)</p> Signup and view all the answers

Zygotes with less than the usual diploid number of chromosomes usually develop normally.

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

What is the common outcome of gametes produced by non-disjunction?

<p>They may have too few or too many chromosomes.</p> Signup and view all the answers

What is the genotype for Turner's syndrome?

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

Klinefelter's syndrome is characterized by females having two X and one Y chromosomes.

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

What is one characteristic of individuals with Klinefelter's syndrome?

<p>Gynecomastia</p> Signup and view all the answers

In XYY syndrome, the genotype of the individual is ______.

<p>XYY</p> Signup and view all the answers

Match the following syndromes with their characteristics:

<p>Turner's syndrome = Short stature and underdeveloped secondary sexual characteristics Klinefelter's syndrome = Two X and one Y chromosomes XYY syndrome = Referred to as 'super-male' XXX syndrome = Generally taller than average females</p> Signup and view all the answers

Which syndrome is most commonly characterized by a lack of menstruation in females?

<p>Turner's syndrome (B)</p> Signup and view all the answers

Individuals with XXX syndrome are referred to as 'super-females'.

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

The frequency of Klinefelter's syndrome has been reported to be between 1 in ______ and 1 in 1000 male births.

<p>500</p> Signup and view all the answers

What is the primary consequence of non-disjunction in polyploidy?

<p>It results in gametes with two sets of chromosomes. (C)</p> Signup and view all the answers

Polyploid animals are often found to be fertile.

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

What is the chromosome number in a tetraploid organism?

<p>4n</p> Signup and view all the answers

The chemical ___ is known for inducing polyploidy by inhibiting chromosome segregation during meiosis.

<p>colchicine</p> Signup and view all the answers

Which of the following is NOT a type of polyploidy?

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

Match the following organisms with their corresponding polyploid chromosome number:

<p>Common wheat = Hexaploid (6n) Macaroni wheat = Tetraploid (4n) Salmon = Triploid (3n) Brassica species = Tetraploid (4n)</p> Signup and view all the answers

Polyploidy is more frequent in animals compared to plants.

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

What is the usual frequency of birth for female infants affected by certain chromosomal variations?

<p>1 in 1000</p> Signup and view all the answers

What is an example of an autopolyploid plant?

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

Allopolyploids originate from a single species.

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

What are the two types of polyploids?

<p>Autopolyploid and Allopolyploid</p> Signup and view all the answers

An autotriploid plant has a chromosomal composition of ________.

<p>AAA</p> Signup and view all the answers

Match the following plants with their ploidy type:

<p>Wild Potato = Autopolyploid Cabbage = Allopolyploid Sugar Beet = Autopolyploid Tomatoes = Autopolyploid</p> Signup and view all the answers

Which of the following statements is true regarding autopolyploid plants?

<p>Triploid plants usually have bigger flowers and are often sterile. (D)</p> Signup and view all the answers

Autopolyploid plants typically exhibit reduced economic value.

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

What occurs when a diploid gamete is fertilized by a normal haploid gamete?

<p>A triploid zygote is formed.</p> Signup and view all the answers

Flashcards

Transition Mutation

A purine base (A or G) is replaced with another purine or a pyrimidine base (C or T) is replaced with another pyrimidine.

Transversion Mutation

A purine base (A or G) is replaced with a pyrimidine base (C or T) or vice versa.

Gene Mutation

A change in the nucleotide sequence of a gene.

Point Mutation

A single base change within a gene.

Signup and view all the flashcards

Base Substitution

One nucleotide is replaced with another, altering the DNA sequence.

Signup and view all the flashcards

Missense Mutation

A base substitution that alters the encoded amino acid, potentially affecting protein function.

Signup and view all the flashcards

Nonsense Mutation

A base substitution that changes a codon to a stop codon, prematurely terminating protein synthesis.

Signup and view all the flashcards

Silent Mutation

A base substitution that changes a codon but still encodes the same amino acid.

Signup and view all the flashcards

Mutation

Any change in the amount or arrangement of genes, nucleotide sequence, or chromosomes in a cell.

Signup and view all the flashcards

Spontaneous Mutation

Mutations that occur randomly without any known external cause.

Signup and view all the flashcards

Induced Mutation

Mutations caused by external factors called mutagens, like chemicals or radiation.

Signup and view all the flashcards

Mutagens

Substances or agents that increase the rate of mutation in organisms.

Signup and view all the flashcards

Physical Mutagens

Physical mutagens include radiation like UV and X-rays.

Signup and view all the flashcards

Chemical Mutagens

Chemical mutagens are substances that can cause DNA mutations, like mustard gas or nitrous acid.

Signup and view all the flashcards

Base Substitution (Point Mutation)

A change within a gene where one nucleotide base is substituted for another.

Signup and view all the flashcards

Turner's Syndrome

A genetic condition in females where they have only one X chromosome, resulting in the genotype 45, XO.

Signup and view all the flashcards

Klinefelter's Syndrome

A chromosomal condition in males with an extra X chromosome, making their genotype 47, XXY.

Signup and view all the flashcards

XYY Syndrome

A genetic condition in males with an extra Y chromosome, resulting in the genotype 47, XYY.

Signup and view all the flashcards

Triple X Syndrome

A genetic condition in females with an extra X chromosome, resulting in the genotype 47, XXX.

Signup and view all the flashcards

Non-disjunction

The failure of chromosomes to separate properly during cell division, leading to an abnormal number of chromosomes in the resulting cells.

Signup and view all the flashcards

Aneuploidy

A condition where an individual has an abnormal number of chromosomes.

Signup and view all the flashcards

Amenorrhea

The lack of menstruation in females.

Signup and view all the flashcards

Gynecomastia

The enlargement of breast tissue in males.

Signup and view all the flashcards

Pseudogene

The process by which a duplicated gene accumulates mutations, leading to it no longer being functional as a gene.

Signup and view all the flashcards

Polyploidy

An organism has more than two sets of chromosomes. This can happen through the duplication of an entire genome. Examples include wheat with six sets of chromosomes.

Signup and view all the flashcards

Gene Duplication

A duplication of an entire chromosome can occur during gamete formation, leading to extra copies of genes. These duplicated genes might acquire mutations that lead to new functions or become inactive pseudogenes.

Signup and view all the flashcards

Trisomy

A type of aneuploidy where a cell has one extra chromosome, resulting in a total of 2n+1 chromosomes.

Signup and view all the flashcards

Evolutionary Significance of Chromosome Duplication

The process of chromosome duplication can be a source of genetic diversity. Duplicated genes can evolve new functions or become inactive. These changes can lead to new traits and ultimately species diversification.

Signup and view all the flashcards

Monosomy

A condition where a cell has one fewer chromosome than usual, resulting in a total of 2n-1 chromosomes.

Signup and view all the flashcards

Triploid

An organism with three sets of chromosomes (3n).

Signup and view all the flashcards

Tetraploid

An organism with four sets of chromosomes (4n).

Signup and view all the flashcards

Parthenogenesis

A type of reproduction where offspring develop from unfertilized eggs.

Signup and view all the flashcards

Induction of Polyploids

A common technique used in plant breeding that aims to induce polyploidy by using chemicals to inhibit chromosome segregation.

Signup and view all the flashcards

Triticale

A hybrid plant species created by combining wheat and rye.

Signup and view all the flashcards

Colchicine

A chemical that inhibits chromosome segregation during meiosis, leading to polyploidy.

Signup and view all the flashcards

Autopolyploid

A type of polyploid where the additional sets of chromosomes are identical to the parent species. It usually arises from a single species and can occur through genome doubling.

Signup and view all the flashcards

Allopolyploid

A type of polyploid where the organism has two or more diploid genomes from different species. It often arises from hybridization and doubling of genomes.

Signup and view all the flashcards

Autotriploid

An autopolyploid with three sets of chromosomes (AAA).

Signup and view all the flashcards

Autotetraploid

An autopolyploid with four sets of chromosomes (AAAA).

Signup and view all the flashcards

Polyploidisation

The process of creating new plant forms by manipulating chromosome numbers, often resulting in increased vigor, larger size, and altered characteristics.

Signup and view all the flashcards

Meiosis

The process of cell division that results in the production of gametes (sperm and egg cells).

Signup and view all the flashcards

Haploid

A cell with a single set of chromosomes (n).

Signup and view all the flashcards

Study Notes

Mutation Classification and Types

  • Mutations are changes in the amount or arrangement of genes or the nucleotide sequence of DNA in an organism's cells.
  • Mutations can occur in any cell.
  • Inherited mutations occur in gametes.
  • Mutations can either lose gene function or create a new function.
  • Most mutations lead to changes in the organism's phenotype (observable characteristics).
  • Mutations can be classified as gene/point mutations or chromosomal mutations.

Spontaneous Mutations

  • Spontaneous mutations occur naturally.
  • The specific environmental factors causing them are unknown.
  • Many spontaneous mutations are point mutations (gene mutations).
  • The average spontaneous gene mutation rate in humans is 10⁻⁵ to 10⁻¹⁰ mutations per gamete per gene.

Induced Mutations

  • Induced mutations are caused by mutagens, which include chemicals and radiation.
  • Scientists can induce mutations by treating organisms with mutagenic agents.

Mutagens

  • Mutagens are substances or agents causing a higher rate of mutation.
  • Mutagenesis is the process of inducing mutations.
  • Two types of mutagens are physical and chemical mutagens.

Gene/Point Mutations

  • These are changes in the nucleotide base sequence of a gene.
  • Base substitution involves exchanging one nucleotide for another.
  • Base insertion involves adding nucleotides.
  • Base deletion involves removing nucleotides.
  • Base inversion involves reversing a segment of nucleotides.
  • Frameshift mutations result from insertions or deletions affecting the reading frame of the gene's base sequence.

Chromosomal Mutations

  • These alter the overall chromosome structure or number.
  • Chromosomal aberrations describe structural changes that occur during meiosis, resulting in abnormalities in the affected chromosome.
  • Translocation is the movement of a chromosomal segment to another location within the same or a different chromosome.
  • Deletion is the loss of a chromosomal fragment.
  • Inversion is the reversal of a chromosomal segment.
  • Duplication is the doubling of a chromosomal segment.

Chromosomal Number Alteration

  • Euploidy (Polyploidy) involves having entire sets of homologous chromosomes duplicated.
  • Aneuploidy involves an abnormal number of chromosomes resulting from the loss or gain of one or more individual chromosomes.
  • Monosomy is having one less chromosome.
  • Trisomy is having one more chromosome.

Autosomal Abnormalities

  • Autosomal abnormalities affect non-sex chromosomes.
  • Monosomy and trisomy are examples of aneuploidy involving autosomes.
  • Down's syndrome (trisomy 21) is a common autosomal abnormality.

Sex Chromosomal Abnormalities

  • Sex chromosomal abnormalities involve abnormal numbers of sex chromosomes (X and Y).
  • Examples are Klinefelter syndrome (XXY) and Turner syndrome (XO).

Studying That Suits You

Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

Quiz Team

Related Documents

More Like This

Gene Mutations and DNA Repair Quiz
5 questions

Gene Mutations and DNA Repair Quiz

BelievableConnemara1086 avatar
BelievableConnemara1086
Gene Mutations and DNA Repair Quiz
5 questions

Gene Mutations and DNA Repair Quiz

BelievableConnemara1086 avatar
BelievableConnemara1086
Understanding Gene Mutations
12 questions
Use Quizgecko on...
Browser
Browser