Part I (Molecular Biology) - 4 Type of Genetic Vatiation
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4 Terms
What is a single nucleotide polymorphism (SNP), and why is it important?
A SNP is a one-base pair change in DNA. It’s a common source of genetic variation that can affect gene function, traits, or disease risk (e.g., sickle cell anemia).
What is a copy number variation (CNV), and how can it affect phenotype?
A CNV is a duplication or deletion of a large DNA segment. It can change gene dosage and influence traits like immunity or digestion (e.g., more AMY1 → better starch digestion).
What are tandem repeats, and how are they medically relevant?
Tandem repeats are short DNA sequences repeated in a row. Expansions can cause disease (e.g., CAG repeats in Huntington's disease). Also used in DNA fingerprinting.
What is a transposon, and how does it contribute to genetic variation?
A transposon is a mobile DNA sequence that can insert itself elsewhere in the genome, potentially disrupting gene function or regulation (“jumping genes”).