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Questions and Answers
What is the result of a nonsense mutation?
Which type of mutation involves the addition, deletion, or alteration of a single nucleotide base?
What is the impact of a missense mutation on the genetic code?
Which mutation type involves changes in the number or structure of chromosomes?
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In which type of mutation does only a single gene get affected during DNA replication?
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What causes a conservative mutation?
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Which mutation type results in a genetic alteration where one single base pair is altered?
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What is the characteristic feature of an inversion mutation?
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Which type of mutation involves the repetition of a segment of genetic material?
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What effect does a deletion mutation have on the DNA sequence?
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Study Notes
Chromosomal Mutations
- Inversion: a segment of a chromosome is removed and then replaced within the chromosome in reverse order, e.g., Hemophilia A, where an inversion mutation inhibits the ability to blood clot.
- Insertion: a larger segment of a chromosome is inserted into a smaller segment, e.g., Fragile X Syndrome, where CGG nucleotides are inserted over 200 times in the DNA segment, causing learning disabilities and social and behavior problems.
Translocation
- A part of a chromosome breaks off and relocates to a completely different chromosome, e.g., Trisomy 21, which causes Down syndrome, a condition characterized by a mildly-to-moderately low IQ, delayed speech, and distinct physical features such as a flattened face and almond-shaped eyes.
Point Mutations
- Silent mutation: an alteration in a nitrogenous base that produces the same amino acid.
- Frameshift mutation: a disruption in the normal sequence of codons due to the insertion or deletion of one or more nitrogenous bases, e.g., Cystic fibrosis, a recessive disease caused by mutations in the CFTR gene, leading to a buildup of thick mucus and complications in various organs.
Chromosomes and Genes
- Chromosomes are threadlike structures made of a DNA molecule and protein.
- Humans have 22 pairs of autosomes and 1 pair of sex chromosomes.
- Autosomal traits are controlled by the 22 pairs of autosomes and are inherited in the same way regardless of the sex of the parent or offspring.
- Sex chromosomes determine the sex of offspring.
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Description
Test your knowledge on chromosomal mutations including inversion and insertion mutations. Learn about how changes in chromosome structure can lead to genetic disorders like Hemophilia A and Fragile X Syndrome.
