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Questions and Answers
How does an inversion mutation alter chromosome structure?
How does an inversion mutation alter chromosome structure?
- A segment of the chromosome is flipped and reinserted in reverse order. (correct)
- A part of the chromosome is completely lost.
- A segment of the chromosome is copied and appears multiple times.
- A segment of one chromosome moves to another chromosome.
Which type of chromosomal mutation results in a cell having 47 chromosomes instead of the normal 46?
Which type of chromosomal mutation results in a cell having 47 chromosomes instead of the normal 46?
- Deletion
- Inversion
- Monosomy
- Trisomy (correct)
What is the most likely cause of numerical chromosomal mutations such as monosomy and trisomy?
What is the most likely cause of numerical chromosomal mutations such as monosomy and trisomy?
- Exposure to radiation during DNA synthesis.
- Translocation events during chromosome breakage.
- Errors in DNA replication during mitosis.
- Nondisjunction during meiosis. (correct)
Chronic Myelogenous Leukemia (CML) is associated with a specific type of chromosomal mutation. Which type of mutation is it?
Chronic Myelogenous Leukemia (CML) is associated with a specific type of chromosomal mutation. Which type of mutation is it?
A plant breeder discovers a new variety of wheat with larger grains and increased yield. Which type of chromosomal mutation is most likely responsible for these traits?
A plant breeder discovers a new variety of wheat with larger grains and increased yield. Which type of chromosomal mutation is most likely responsible for these traits?
A researcher identifies a new genetic disorder in which a segment of chromosome 15 is missing. What type of chromosomal mutation is this?
A researcher identifies a new genetic disorder in which a segment of chromosome 15 is missing. What type of chromosomal mutation is this?
Turner Syndrome, characterized by the genotype 45, X in females, is an example of which type of chromosomal mutation?
Turner Syndrome, characterized by the genotype 45, X in females, is an example of which type of chromosomal mutation?
Exposure to certain chemicals and radiation can increase the rate of chromosomal mutations. What are these factors called?
Exposure to certain chemicals and radiation can increase the rate of chromosomal mutations. What are these factors called?
Fragile X Syndrome is caused by a specific type of chromosomal mutation involving the FMR1 gene. What is this mutation?
Fragile X Syndrome is caused by a specific type of chromosomal mutation involving the FMR1 gene. What is this mutation?
Which of the following outcomes is LEAST likely to result from a chromosomal mutation?
Which of the following outcomes is LEAST likely to result from a chromosomal mutation?
Flashcards
Chromosomal Mutations
Chromosomal Mutations
Changes in the structure or number of chromosomes, leading to genetic disorders or trait variations, often due to errors in DNA replication or cell division.
Structural Mutations
Structural Mutations
Alterations in a chromosome's shape or size, including deletion, duplication, inversion, and translocation.
Deletion (Chromosomal)
Deletion (Chromosomal)
The loss of a segment of a chromosome.
Duplication (Chromosomal)
Duplication (Chromosomal)
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Inversion (Chromosomal)
Inversion (Chromosomal)
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Translocation (Chromosomal)
Translocation (Chromosomal)
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Numerical Mutations
Numerical Mutations
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Monosomy
Monosomy
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Trisomy
Trisomy
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Polyploidy
Polyploidy
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Study Notes
- Chromosomal mutations involve changes in chromosome structure or number.
- Errors in DNA replication, recombination, or cell division (meiosis/mitosis) cause these mutations.
Structural Mutations
- Structural mutations alter a chromosome's shape or size.
- These alterations involve deletion, duplication, inversion, or translocation.
Deletion
- Part of a chromosome is missing or lost entirely.
- Cri-du-chat Syndrome is an example, resulting from a deletion in chromosome 5.
Duplication
- A segment of a chromosome is copied, appearing twice.
- Fragile X Syndrome exemplifies this, with duplication in the FMR1 gene.
Inversion
- A segment of the chromosome is flipped and reinserted.
- Inversions often occur without major effects, but can lead to infertility or miscarriage.
Translocation
- A segment of one chromosome moves to another chromosome.
- Chronic Myelogenous Leukemia (CML) is associated with the Philadelphia chromosome, a translocation between chromosomes 9 and 22.
Numerical Mutations
- Numerical mutations result from nondisjunction, where chromosomes fail to separate properly during meiosis.
Monosomy
- One chromosome is missing (2n - 1).
- Turner Syndrome (45, X) is an example, marked by a missing X chromosome in females.
Trisomy
- An extra chromosome is present (2n + 1).
- Trisomy 21 (Down Syndrome) involves an extra chromosome 21.
- Trisomy 18 (Edwards Syndrome) involves an extra chromosome 18.
- Trisomy 13 (Patau Syndrome) involves an extra chromosome 13.
Polyploidy
- Polyploidy refers to extra full sets of chromosomes (3n, 4n, etc.).
- This is common in plants, leading to larger fruits or flowers, for example, in wheat and bananas.
Causes of Chromosomal Mutations
- Errors in meiosis, including mistakes during crossing over, nondisjunction, or chromosome breakage, can lead to mutations.
- Exposure to mutagens like radiation, chemicals, or viruses that damage DNA causes mutations.
- Inherited conditions: Some mutations are passed down from parents.
Effects of Chromosomal Mutations
- Harmful mutations cause genetic disorders like Down Syndrome and Turner Syndrome.
- Beneficial mutations lead to genetic variation and evolution.
- Neutral mutations have no significant effect on health or survival.
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