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Questions and Answers
A researcher observes a cell with 69 chromosomes. Which type of chromosomal mutation is most likely present?
A researcher observes a cell with 69 chromosomes. Which type of chromosomal mutation is most likely present?
- Monosomy
- Inversion
- Polyploidy (correct)
- Trisomy
Which of the following is an example of a structural chromosomal mutation?
Which of the following is an example of a structural chromosomal mutation?
- Deletion of a chromosome segment (correct)
- Monosomy X
- 47, XXY
- Trisomy 21
A geneticist is studying a family with a history of a particular genetic disorder. Karyotyping reveals that some family members have an abnormal chromosome arrangement where a segment of one chromosome has been moved to a non-homologous chromosome. Which type of mutation is most likely responsible for the disorder in this family?
A geneticist is studying a family with a history of a particular genetic disorder. Karyotyping reveals that some family members have an abnormal chromosome arrangement where a segment of one chromosome has been moved to a non-homologous chromosome. Which type of mutation is most likely responsible for the disorder in this family?
- Inversion
- Translocation (correct)
- Monosomy
- Duplication
A researcher is analyzing a cell line and finds that a specific gene, normally located on chromosome 14, is now found on chromosome 8. What type of chromosomal mutation is most likely responsible for this change?
A researcher is analyzing a cell line and finds that a specific gene, normally located on chromosome 14, is now found on chromosome 8. What type of chromosomal mutation is most likely responsible for this change?
A plant breeder discovers that a new variety of wheat has four sets of chromosomes instead of the usual two. What type of chromosomal mutation has occurred in this wheat variety?
A plant breeder discovers that a new variety of wheat has four sets of chromosomes instead of the usual two. What type of chromosomal mutation has occurred in this wheat variety?
Flashcards
Chromosomal Mutation
Chromosomal Mutation
Changes in chromosome structure or number, leading to genetic abnormalities.
Deletion (Chromosomal)
Deletion (Chromosomal)
Loss of a chromosome segment, removing certain genes.
Duplication (Chromosomal)
Duplication (Chromosomal)
Presence of an extra copy of a chromosome segment.
Inversion (Chromosomal)
Inversion (Chromosomal)
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Aneuploidy
Aneuploidy
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Study Notes
- Chromosomal mutations are changes in chromosome structure or number, resulting in genetic abnormalities
Types of Chromosomal Mutations
- Structural mutations affect chromosome structure
- Deletion involves the loss of a chromosome segment
- Duplication is an extra copy of a chromosome segment
- Inversion is the reversal of a chromosome segment
- Translocation is the exchange of segments between non-homologous chromosomes
- Numerical mutations (Aneuploidy) change chromosome number
- Monosomy (2n-1) is the loss of one chromosome, such as in Turner syndrome (45,X)
- Trisomy (2n+1) is an extra chromosome, like in Down syndrome (47,XX,+21)
- Polyploidy involves extra sets of chromosomes and is common in plants, but rare in animals
Causes
- Errors in meiosis (nondisjunction)
- Exposure to mutagens, like radiation or chemicals
- Viral infections
Effects
- Can be lethal or cause genetic disorders
- Some mutations may be neutral or even beneficial, and have evolutionary significance
Examples of Genetic Disorders
- Down syndrome (Trisomy 21)
- Turner syndrome (45,X)
- Klinefelter syndrome (47,XXY)
- Cri-du-chat syndrome (deletion on chromosome 5)
Detection and Diagnosis
- Karyotyping
- Fluorescence in situ hybridization (FISH)
- Genetic testing (e.g., PCR, microarrays)
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