DNA POLYMORPHISM Flashcards
refers to the presence of genetic variations or differences in the DNA sequences among individuals of a species or within a population
DNA POLYMORPHISM
Why do polymorphism exist
Recombination
Mutation
Gene flow and drift
De novo variation
Types of dna polymorphism
Single nucleotide polymorphism
Insertions and deletions
Tandem repeats
Point mutations involving a single nucleotide
Single nucleotide polymorphism
Single nucleotide polymorphism application
genetic studies, association studies, & personalized medicine
How many basepairs for 1snp
300-1000 bp
Example of snp
rs4680 SNP or the COMT Val158Met polymorphism
Variations involving the insertion or deletion of nucleotide sequences
Insertion and Deletion (Indels)
can cause frameshift mutations and influence gene function
Insertion and deletion (indels)
Example of insertion and deletion (indels)
Huntington disease, a neurodegenerative disorder caused by expansion of CAG repeats
Variations in the number of repeated DNA sequences within a specific genomic region
Tandem repeats
Applications of tandem repeats
Forensic DNA analysis, paternity testing, and population studies.
Types of tandem repeats
Variable number tandem repeat
Short tandem repeat
repeats of 10-50 base sequences in tandem; found in minisatellite DNA regions
Variable number tandem repeats
repeats of 1-10 base sequences in tandem; found in microsatellite DNA regions
Short tandem repeats
