Chromosome Mutations: Rearrangements & Aneuploidy

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Questions and Answers

Which of the following best describes a metacentric chromosome?

  • The centromere is located in the middle of the chromosome. (correct)
  • The centromere is located very close to one end of the chromosome.
  • The centromere is located somewhere between the middle and the end of the chromosome.
  • The centromere is located at the end of the chromosome.

What is the primary purpose of karyotyping?

  • To analyze the base sequence of DNA.
  • To examine the arrangement and number of chromosomes in a cell. (correct)
  • To observe the metabolic activity within cells.
  • To measure the rate of cell division.

Which of the following is true regarding chromosome G bands?

  • They represent regions of centromeric heterochromatin.
  • They are regions rich in cytosine-guanine base pairs.
  • They are obtained using Giemsa stain. (correct)
  • They indicate regions rich in quinacrine mustard.

Which type of chromosome mutation results in an increase in the number of copies of a particular chromosomal region?

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

A chromosome rearrangement occurs where a segment of a chromosome is flipped 180 degrees. What kind of rearrangement is this?

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

During meiosis, a duplicated chromosome segment must loop out to allow for the homologous sequences of the chromosomes to align. What effect is this an example of?

<p>Effects of chromosome duplication. (C)</p> Signup and view all the answers

What is the outcome of unequal crossing over between misaligned homologs?

<p>One chromosome with a duplication and another with a deletion. (B)</p> Signup and view all the answers

Why do chromosome duplications often result in abnormal phenotypes?

<p>Developmental processes rely on balanced gene dosage. (D)</p> Signup and view all the answers

What is the most likely effect of a large deletion in a chromosome?

<p>A recessive allele on the homologous chromosome being expressed. (A)</p> Signup and view all the answers

What is pseudodominance, and how does a chromosomal deletion cause it?

<p>The expression of a recessive allele when the dominant allele has been deleted. (D)</p> Signup and view all the answers

How do paracentric and pericentric inversions differ from each other?

<p>Pericentric inversions include the centromere, while paracentric inversions do not. (B)</p> Signup and view all the answers

In an individual heterozygous for a paracentric inversion, what typically results from a single crossover event within the inverted region during meiosis?

<p>A dicentric chromosome and an acentric fragment. (B)</p> Signup and view all the answers

A dicentric chromosome is formed during meiosis in an individual heterozygous for a chromosomal rearrangement. Which type of rearrangement is most likely responsible for this?

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

What is a Robertsonian translocation?

<p>Fusion of two acrocentric chromosomes at the centromere. (D)</p> Signup and view all the answers

What is the most likely result of adjacent-1 or adjacent-2 segregation?

<p>Unbalanced gametes and nonviable offspring. (B)</p> Signup and view all the answers

What is the outcome of a Robertsonian translocation?

<p>One metacentric chromosome and one chromosome with two very short arms (D)</p> Signup and view all the answers

What term describes chromosomal regions that are prone to breakage?

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

Which cellular event can lead to aneuploidy?

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

Which of the following is the correct notation to show a nullisomy?

<p>2n - 2 (C)</p> Signup and view all the answers

If a diploid species has 24 chromosomes, how many chromosomes would be found in a tetrasomic individual of the same species?

<p>26 (D)</p> Signup and view all the answers

A diploid organism has a chromosome number of $2n = 36$. How many chromosomes will be found in a trisomic member of this species?

<p>37 (C)</p> Signup and view all the answers

What is the genetic basis of familial Down syndrome?

<p>Robertsonian translocation involving chromosome 21. (D)</p> Signup and view all the answers

Which of the following statements accurately compares autosomal and sex chromosome aneuploidies in mammals?

<p>Autosomal aneuploidies are generally less tolerated than sex chromosome aneuploidies. (A)</p> Signup and view all the answers

Which of the following is generally true of autopolyploidy?

<p>It involves chromosome doubling via nondisjunction. (A)</p> Signup and view all the answers

What event typically leads to autopolyploidy?

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

How does allopolyploidy typically arise?

<p>From chromosome doubling after hybridization between two species. (B)</p> Signup and view all the answers

Species A has $2n = 16$ chromosomes, and species B has $2n = 14$. How many chromosomes would be found in an allotriploid of these two species?

<p>22 or 23 (A)</p> Signup and view all the answers

Which statement best explains why polyploidy is more common in plants than in animals?

<p>Many plants can reproduce asexually, tolerating chromosome changes more readily. (A)</p> Signup and view all the answers

Which of the following best describes the significance of polyploidy in plants?

<p>Increased cell size, larger plant attributes, and potential for new species. (D)</p> Signup and view all the answers

If a region of a chromosome is rich with cytosine-guanine base pairs, what kind of banding pattern would this region have?

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

If a chromosome mutation alters just the structure of chromosomes, but not the number of chromosomes, what kind of mutation is this?

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

Which of these options is a type of chromosome mutation?

<p>All of the above (D)</p> Signup and view all the answers

A type of chromosome mutation alters just the number of chromosomes, but not the structure of chromosomes. What kind of mutation is this?

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

A type of chromosome mutation adds one or more complete sets of chromosomes. What kind of mutation is this?

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

What is the term used when there is a loss of a chromosomal segment?

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

What is the term used to describe the chromosomal mutation where a chromosome segment moves from one chromosome to a nonhomologous chromosome?

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

What outcome is expected during meiosis within individuals that are homozygous for inversions?

<p>No problems will arise (B)</p> Signup and view all the answers

What typically results from a single crossover within a pericentric inversion?

<p>Gametes with recombinant chromosomes are nonviable because genes are either missing or overly represented (B)</p> Signup and view all the answers

A type of chromosome aberration happens when two acrocentric chromosomes fuse. What is the name of this type of aberration?

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

Which of the following describes a nonreciprocal translocation?

<p>Movement of a chromosome segment to a nonhomologous chromosome or to another region of the same chromosome without reciprocal exchange. (A)</p> Signup and view all the answers

Which of the following is an example of sex-chromosome aneuploidy?

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

What is the expected outcome in an individual that is homozygous for an inversion during meiosis?

<p>No significant issues arise during meiosis. (B)</p> Signup and view all the answers

What is the most likely consequence of a crossover event occurring within the inverted region of a heterozygote with a pericentric inversion?

<p>Nonviable recombinant gametes with duplications and deletions. (A)</p> Signup and view all the answers

A fusion of two acrocentric chromosomes is an example of what type of chromosomal aberration?

<p>A Robertsonian translocation. (A)</p> Signup and view all the answers

In what kind of translocation does a chromosome segment move from one chromosome to another without reciprocal exchange?

<p>Nonreciprocal translocation. (A)</p> Signup and view all the answers

Which situation exemplifies a sex-chromosome aneuploidy?

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

How do chromosome duplications commonly lead to abnormal phenotypes?

<p>By disrupting the balanced ratios of gene products. (D)</p> Signup and view all the answers

How does a chromosome deletion lead to pseudodominance?

<p>It removes the dominant allele, allowing the recessive allele to be expressed. (A)</p> Signup and view all the answers

An individual heterozygous for a paracentric inversion experiences a single crossover event within the inverted region during meiosis. Which outcome is most likely?

<p>Nonviable gametes due to missing genes. (C)</p> Signup and view all the answers

How does a dicentric chromosome form during meiosis in a heterozygous individual?

<p>Through crossover within a paracentric inversion. (B)</p> Signup and view all the answers

During meiosis, what is the probable result of adjacent-1 or adjacent-2 segregation?

<p>Unbalanced gametes, leading to nonviable offspring. (C)</p> Signup and view all the answers

What triggers aneuploidy?

<p>Errors in chromosome segregation. (B)</p> Signup and view all the answers

In a species where $2n = 24$, what is the expected number of chromosomes in a tetrasomic individual?

<p>26 (B)</p> Signup and view all the answers

In mammals, what distinguishes sex chromosome aneuploidies from autosomal aneuploidies?

<p>Sex chromosome aneuploidies are more common because of X-inactivation or mechanisms of dosage compensation. (A)</p> Signup and view all the answers

How are autopolyploids typically produced?

<p>Through nondisjunction in mitosis or meiosis. (D)</p> Signup and view all the answers

How does allopolyploidy usually originate?

<p>By chromosome doubling in a hybrid of two species. (C)</p> Signup and view all the answers

Species A has $2n = 16$ and species B has $2n = 14$. How many chromosomes would an allotriploid of these species have?

<p>23 (A)</p> Signup and view all the answers

What explains the higher prevalence of polyploidy in plants compared to animals?

<p>Plants can reproduce asexually, tolerating chromosome imbalances more readily. (A)</p> Signup and view all the answers

What is the primary significance of polyploidy in plants?

<p>It can lead to increased genetic diversity and adaptation. (C)</p> Signup and view all the answers

Which kind of chromosome mutation involves a change specifically affecting just chromosome numbers?

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

Which kind of chromosome mutation specifically duplicates one or more entire sets of chromosomes?

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

Which of the following leads to the loss of a chromosomal segment?

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

A chromosome segment moves from one chromosome to a nonhomologous chromosome. What type of chromosome mutation is this?

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

Suppose developmental processes depend on the relative amounts of proteins encoded by different genes, what chromosomal mutation would most likely negatively affect the phenotypes?

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

What is indicated if an individual possesses the dominant wild-type allele in a heterozygous individual is absent due to a deletion on one chromosome?

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

What is the outcome from the production of a dicentric chromosome when a cross over occurs in an individual heterozygous for a chromosome rearrangement?

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

What event is expected to occur when the short arm of one acrocentric chromosome is exchanged with the long arm of another?

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

Chromosomal number changes can be classified into what main categories?

<p>Aneuploidy, Polyploidy (A)</p> Signup and view all the answers

What notation is defined as loss of a single chromosome:

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

What notation is defined as gain of TWO homologous chromosomes:

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

Flashcards

Chromosome Morphology

The position of the centromere on the chromosome

Karyotyping

A procedure where chromosomes are prepared from actively dividing cells, halted in metaphase, and arranged according to size.

Banding

A technique where chromosomes are stained to reveal structural details.

Chromosome Rearrangements

Mutations that alter the arrangements of genes on chromosomes.

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Duplication (genetics)

A mutation involving the addition of one or more copies of a chromosomal segment.

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Deletion (genetics)

A chromosome mutation where a segment is lost.

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Pseudodominance

Appearance of a recessive trait due to the deletion of a dominant allele.

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Haploinsufficiency

When a single copy of a gene is not enough to produce a wild-type phenotype.

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Inversion (genetics)

A chromosome rearrangement in which a segment is flipped 180 degrees.

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Paracentric Inversion

Inversion that does NOT include the centromere.

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Pericentric Inversion

Inversion that includes the centromere.

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Translocation (genetics)

Chromosome rearrangement where a segment moves to a non-homologous chromosome or another region of the same chromosome.

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Nonreciprocal Translocation

Translocation without reciprocal exchange.

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Reciprocal Translocation

Exchange between segments of nonhomologous chromosomes

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Robertsonian Translocation

Fusion of two acrocentric chromosomes

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Fragile Sites

Chromosomal regions prone to breakage.

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Aneuploidy

Change in the # of individual chromosomes

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Nullisomy

Loss of both homologous chromosomes (2n-2).

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Monosomy

Loss of a single chromosome (2n-1).

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Trisomy

Gain of a single chromosome (2n+1).

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Tetrasomy

Gain of two homologous chromosomes (2n+2).

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Uniparental Disomy

Aneuploidy where both chromosomes are inherited by a single parent

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Mosaicism

Cells with different genetic constitutions

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Polyploidy

One or more extra sets of chromosomes.

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Autopolyploidy

Extra chromosome sets are derived from a single species.

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Allopolyploidy

Extra chromosome sets are derived from two or more species.

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Study Notes

  • Chromosome Mutations

    • Cover rearrangements, aneuploids, and polyploids
    • Chromosome morphology is determined by the position of the centromere
      • Metacentric: Centromere in the middle
      • Submetacentric: Centromere slightly off-center
      • Acrocentric: Centromere near one end
      • Telocentric: Centromere at the end

    Karyotyping

    • Chromosomes are prepared from actively dividing cells
    • Process is halted in metaphase
    • Chromosomes arranged according to size

    Banding

    • G bands are created using Giemsa stain
    • Q bands are created using quinacrine mustard
    • C bands indicate centromeric heterochromatin
    • R bands are rich in cytosine-guanine base pairs

    Types of Chromosome Mutations

    • Chromosome rearrangements alter the structure of chromosomes
    • Aneuploidy alters the number of chromosomes
    • Polyploidy adds one or more complete sets of chromosomes

    Chromosome Rearrangements

    • Four types of chromosomal rearrangements exist
      • Duplication
      • Deletion
      • Inversion
      • Translocation

    Chromosome Duplication

    • A segment of the chromosome is duplicated
    • The duplicated EF region loops out to allow homologous sequences to align

    Effects of Chromosome Duplications

    • Chromosome duplications can result in abnormal phenotypes
    • Imbalances in gene product can result
    • Extra copies of genes within the duplicated region do not pair in meiosis
    • A mutation can occur in which part of a chromosome is lost
    • Pseudodominance is when the dominant wild-type allele in a heterozygous individual is absent due to a deletion on one chromosome

    Inversion

    • Inversion depends on the involvement of the centromere
      • Paracentric inversion does not involve the centromere
      • Pericentric inversion involves the centromere
    • For individuals homozygous for inversions, no issues arise in meiosis
    • For individuals heterozygous for inversions:
      • Homologous sequences align only if the two chromosomes form an inversion loop
      • Demonstrate reduced recombination in a paracentric inversion, as gametes formed result in nonviable offspring
      • Have abnormal gametes formed in a pericentric inversion
    • A dicentric chromosome is produced when crossing over takes place in an individual heterozygous for paracentric inversion

    Translocations

    • Nonreciprocal translocation occurs
    • Reciprocal translocation occurs
    • Robertsonian translocation occurs

    Robertsonian Translocation

    • The short arm of one acrocentric chromosome is exchanged with the long arm of another
    • A large metacentric chromosome is created
    • A fragment often fails to segregate and is lost
    • The outcome is one metacentric chromosome and one chromosome with two very short arms

    Fragile Sites

    • Chromosomal regions susceptible to breakage

    Aneuploidy

    • An increase or decrease in the number of individual chromosomes
    • A variation in copy number
    • Causes:
      • Deletion of centromere during mitosis and meiosis
      • Robertsonian translocation
      • Nondisjunction during meiosis and mitosis

    Types of Aneuploidy

    • Nullisomy: Loss of both members of a homologous pair of chromosomes; 2n - 2
    • Monosomy: Loss of a single chromosome; 2n – 1
    • Trisomy: Gain of a single chromosome; 2n + 1
    • Tetrasomy: Gain of two homologous chromosomes; 2n + 2

    Effects of Aneuploidy

    • Mutants could actually be trisomics
    • Sex-chromosome aneuploids are more common than autosomal aneuploids in humans and mammals
    • Trisomy 21: Down syndrome is an autosomal aneuploid
      • 75% of cases are caused by random nondisjunction in egg formation
      • The other occurrences are caused by familial Down syndrome: Robertsonian translocation between chromosomes 14 and 21
    • Other autosomal aneuploids include
      • Trisomy 18: Edward syndrome, 1/8000 live births
      • Trisomy 13: Patau syndrome, 1/15,000 live births
      • Trisomy 8: 1/25,000 ~ 1/50,000 live births
    • Uniparental disomy occurs when both chromosomes are inherited from the same parent
      • Mosaicism and nondisjunction in mitotic division can cause this

    Polyploidy

    • The presence of more than two sets of chromosomes
    • Autopolyploidy occurs from single species
    • Allopolyploidy occurs from two species

    Autopolyploidy

    • Can arise though nondisjunction in mitosis or meiosis

    Significance of Polyploidy

    • Increase in cell size
    • Larger plant attributes
    • Evolution: may give rise to new species

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