Experiment 2: DNA Sequence Polymorphism Flashcards
The DNA sequences of genomes is _____.
Dynamic
How will this experiment differ from the first experiment?
In this experiment, sequence differences among individuals of the SAME species will be investigated.
Define Polymorphism
If two individuals have sequence differences at the same place in the genome, it is called polymorphism.
What is a difference of one nucleotide in a polymorphism called?
A difference of one nucleotide is called a single nucleotide polymorphism (SNP).
What is an example of an SNP in humans? Go in detail.
The mutation that results in sickle cell anemia is due to SNP: the normal allele has a glutamic acid codon (GAG) whereas the mutant allele has a valine (GTG) codon at exactly the same place in the protein. This is an example of a non synonymous mutation and, in this case, it is detrimental to protein function.
Do SNPs usually change the protein sequence?
No (like TTT and TTC code for phenylalanine).
Define Non synonymous mutation.
A nucleotide mutation that alters the amino acid sequence of a protein. NA
Define Synonymous Mutation
A nucleotide mutation that does NOT alter the amino acid sequence of a protein.
Many synonymous mutations occur at the _____ of a codon
Third Position
What are the different types of Polymorphisms?
Single Nucleotide Polymorphism (SNP)-Insertion/Deletion-Transposable Elements (TEs)
Define Insertion/Deletion
Occurs when one or more nucleotide of DNA is present in one individual and absent in another.
SNPs and Indels are the results of errors during the _____ process.
DNA Replication
Define Transposable Elements
DNA sequences that move from one location on the genome to another. They are divided into autonomous and non-autonomous.
Explain everything important about Autonomous and Non-Autonomous Transposable Elements
The autonomous element contains the gene encoding transposase enzyme (TPase) necessary for movement of both the autonomous and non autonomous elements. The non-autonomous element lacks a functional TPase gene and depends on the autonomous element for movement.
What do the arrows at the ends of the autonomous and non-autonomous transposable elements represent?
Terminal Inverted Repeats