Podcast
Questions and Answers
Which of the following best describes a metacentric chromosome?
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?
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?
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?
Which type of chromosome mutation results in an increase in the number of copies of a particular chromosomal region?
A chromosome rearrangement occurs where a segment of a chromosome is flipped 180 degrees. What kind of rearrangement is this?
A chromosome rearrangement occurs where a segment of a chromosome is flipped 180 degrees. What kind of rearrangement is this?
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?
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?
What is the outcome of unequal crossing over between misaligned homologs?
What is the outcome of unequal crossing over between misaligned homologs?
Why do chromosome duplications often result in abnormal phenotypes?
Why do chromosome duplications often result in abnormal phenotypes?
What is the most likely effect of a large deletion in a chromosome?
What is the most likely effect of a large deletion in a chromosome?
What is pseudodominance, and how does a chromosomal deletion cause it?
What is pseudodominance, and how does a chromosomal deletion cause it?
How do paracentric and pericentric inversions differ from each other?
How do paracentric and pericentric inversions differ from each other?
In an individual heterozygous for a paracentric inversion, what typically results from a single crossover event within the inverted region during meiosis?
In an individual heterozygous for a paracentric inversion, what typically results from a single crossover event within the inverted region during meiosis?
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?
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?
What is a Robertsonian translocation?
What is a Robertsonian translocation?
What is the most likely result of adjacent-1 or adjacent-2 segregation?
What is the most likely result of adjacent-1 or adjacent-2 segregation?
What is the outcome of a Robertsonian translocation?
What is the outcome of a Robertsonian translocation?
What term describes chromosomal regions that are prone to breakage?
What term describes chromosomal regions that are prone to breakage?
Which cellular event can lead to aneuploidy?
Which cellular event can lead to aneuploidy?
Which of the following is the correct notation to show a nullisomy?
Which of the following is the correct notation to show a nullisomy?
If a diploid species has 24 chromosomes, how many chromosomes would be found in a tetrasomic individual of the same species?
If a diploid species has 24 chromosomes, how many chromosomes would be found in a tetrasomic individual of the same species?
A diploid organism has a chromosome number of $2n = 36$. How many chromosomes will be found in a trisomic member of this species?
A diploid organism has a chromosome number of $2n = 36$. How many chromosomes will be found in a trisomic member of this species?
What is the genetic basis of familial Down syndrome?
What is the genetic basis of familial Down syndrome?
Which of the following statements accurately compares autosomal and sex chromosome aneuploidies in mammals?
Which of the following statements accurately compares autosomal and sex chromosome aneuploidies in mammals?
Which of the following is generally true of autopolyploidy?
Which of the following is generally true of autopolyploidy?
What event typically leads to autopolyploidy?
What event typically leads to autopolyploidy?
How does allopolyploidy typically arise?
How does allopolyploidy typically arise?
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?
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?
Which statement best explains why polyploidy is more common in plants than in animals?
Which statement best explains why polyploidy is more common in plants than in animals?
Which of the following best describes the significance of polyploidy in plants?
Which of the following best describes the significance of polyploidy in plants?
If a region of a chromosome is rich with cytosine-guanine base pairs, what kind of banding pattern would this region have?
If a region of a chromosome is rich with cytosine-guanine base pairs, what kind of banding pattern would this region have?
If a chromosome mutation alters just the structure of chromosomes, but not the number of chromosomes, what kind of mutation is this?
If a chromosome mutation alters just the structure of chromosomes, but not the number of chromosomes, what kind of mutation is this?
Which of these options is a type of chromosome mutation?
Which of these options is a type of chromosome mutation?
A type of chromosome mutation alters just the number of chromosomes, but not the structure of chromosomes. What kind of mutation is this?
A type of chromosome mutation alters just the number of chromosomes, but not the structure of chromosomes. What kind of mutation is this?
A type of chromosome mutation adds one or more complete sets of chromosomes. What kind of mutation is this?
A type of chromosome mutation adds one or more complete sets of chromosomes. What kind of mutation is this?
What is the term used when there is a loss of a chromosomal segment?
What is the term used when there is a loss of a chromosomal segment?
What is the term used to describe the chromosomal mutation where a chromosome segment moves from one chromosome to a nonhomologous chromosome?
What is the term used to describe the chromosomal mutation where a chromosome segment moves from one chromosome to a nonhomologous chromosome?
What outcome is expected during meiosis within individuals that are homozygous for inversions?
What outcome is expected during meiosis within individuals that are homozygous for inversions?
What typically results from a single crossover within a pericentric inversion?
What typically results from a single crossover within a pericentric inversion?
A type of chromosome aberration happens when two acrocentric chromosomes fuse. What is the name of this type of aberration?
A type of chromosome aberration happens when two acrocentric chromosomes fuse. What is the name of this type of aberration?
Which of the following describes a nonreciprocal translocation?
Which of the following describes a nonreciprocal translocation?
Which of the following is an example of sex-chromosome aneuploidy?
Which of the following is an example of sex-chromosome aneuploidy?
What is the expected outcome in an individual that is homozygous for an inversion during meiosis?
What is the expected outcome in an individual that is homozygous for an inversion during meiosis?
What is the most likely consequence of a crossover event occurring within the inverted region of a heterozygote with a pericentric inversion?
What is the most likely consequence of a crossover event occurring within the inverted region of a heterozygote with a pericentric inversion?
A fusion of two acrocentric chromosomes is an example of what type of chromosomal aberration?
A fusion of two acrocentric chromosomes is an example of what type of chromosomal aberration?
In what kind of translocation does a chromosome segment move from one chromosome to another without reciprocal exchange?
In what kind of translocation does a chromosome segment move from one chromosome to another without reciprocal exchange?
Which situation exemplifies a sex-chromosome aneuploidy?
Which situation exemplifies a sex-chromosome aneuploidy?
How do chromosome duplications commonly lead to abnormal phenotypes?
How do chromosome duplications commonly lead to abnormal phenotypes?
How does a chromosome deletion lead to pseudodominance?
How does a chromosome deletion lead to pseudodominance?
An individual heterozygous for a paracentric inversion experiences a single crossover event within the inverted region during meiosis. Which outcome is most likely?
An individual heterozygous for a paracentric inversion experiences a single crossover event within the inverted region during meiosis. Which outcome is most likely?
How does a dicentric chromosome form during meiosis in a heterozygous individual?
How does a dicentric chromosome form during meiosis in a heterozygous individual?
During meiosis, what is the probable result of adjacent-1 or adjacent-2 segregation?
During meiosis, what is the probable result of adjacent-1 or adjacent-2 segregation?
What triggers aneuploidy?
What triggers aneuploidy?
In a species where $2n = 24$, what is the expected number of chromosomes in a tetrasomic individual?
In a species where $2n = 24$, what is the expected number of chromosomes in a tetrasomic individual?
In mammals, what distinguishes sex chromosome aneuploidies from autosomal aneuploidies?
In mammals, what distinguishes sex chromosome aneuploidies from autosomal aneuploidies?
How are autopolyploids typically produced?
How are autopolyploids typically produced?
How does allopolyploidy usually originate?
How does allopolyploidy usually originate?
Species A has $2n = 16$ and species B has $2n = 14$. How many chromosomes would an allotriploid of these species have?
Species A has $2n = 16$ and species B has $2n = 14$. How many chromosomes would an allotriploid of these species have?
What explains the higher prevalence of polyploidy in plants compared to animals?
What explains the higher prevalence of polyploidy in plants compared to animals?
What is the primary significance of polyploidy in plants?
What is the primary significance of polyploidy in plants?
Which kind of chromosome mutation involves a change specifically affecting just chromosome numbers?
Which kind of chromosome mutation involves a change specifically affecting just chromosome numbers?
Which kind of chromosome mutation specifically duplicates one or more entire sets of chromosomes?
Which kind of chromosome mutation specifically duplicates one or more entire sets of chromosomes?
Which of the following leads to the loss of a chromosomal segment?
Which of the following leads to the loss of a chromosomal segment?
A chromosome segment moves from one chromosome to a nonhomologous chromosome. What type of chromosome mutation is this?
A chromosome segment moves from one chromosome to a nonhomologous chromosome. What type of chromosome mutation is this?
Suppose developmental processes depend on the relative amounts of proteins encoded by different genes, what chromosomal mutation would most likely negatively affect the phenotypes?
Suppose developmental processes depend on the relative amounts of proteins encoded by different genes, what chromosomal mutation would most likely negatively affect the phenotypes?
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?
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?
What is the outcome from the production of a dicentric chromosome when a cross over occurs in an individual heterozygous for a chromosome rearrangement?
What is the outcome from the production of a dicentric chromosome when a cross over occurs in an individual heterozygous for a chromosome rearrangement?
What event is expected to occur when the short arm of one acrocentric chromosome is exchanged with the long arm of another?
What event is expected to occur when the short arm of one acrocentric chromosome is exchanged with the long arm of another?
Chromosomal number changes can be classified into what main categories?
Chromosomal number changes can be classified into what main categories?
What notation is defined as loss of a single chromosome:
What notation is defined as loss of a single chromosome:
What notation is defined as gain of TWO homologous chromosomes:
What notation is defined as gain of TWO homologous chromosomes:
Flashcards
Chromosome Morphology
Chromosome Morphology
The position of the centromere on the chromosome
Karyotyping
Karyotyping
A procedure where chromosomes are prepared from actively dividing cells, halted in metaphase, and arranged according to size.
Banding
Banding
A technique where chromosomes are stained to reveal structural details.
Chromosome Rearrangements
Chromosome Rearrangements
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Duplication (genetics)
Duplication (genetics)
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Deletion (genetics)
Deletion (genetics)
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Pseudodominance
Pseudodominance
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Haploinsufficiency
Haploinsufficiency
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Inversion (genetics)
Inversion (genetics)
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Paracentric Inversion
Paracentric Inversion
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Pericentric Inversion
Pericentric Inversion
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Translocation (genetics)
Translocation (genetics)
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Nonreciprocal Translocation
Nonreciprocal Translocation
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Reciprocal Translocation
Reciprocal Translocation
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Robertsonian Translocation
Robertsonian Translocation
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Fragile Sites
Fragile Sites
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Aneuploidy
Aneuploidy
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Nullisomy
Nullisomy
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Monosomy
Monosomy
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Trisomy
Trisomy
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Tetrasomy
Tetrasomy
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Uniparental Disomy
Uniparental Disomy
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Mosaicism
Mosaicism
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Polyploidy
Polyploidy
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Autopolyploidy
Autopolyploidy
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Allopolyploidy
Allopolyploidy
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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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