Restriction fragment length polymorphism

Restriction fragment length polymorphism (RFLP) is genetic variation detected as differences in DNA fragment lengths after DNA is cut with restriction enzymes. It can result from changes in restriction sites or from insertions and deletions between them.

Restriction enzyme: An enzyme that recognizes specific DNA sequences and cuts DNA at or near those sites. Its sequence-specific cuts create the fragments whose differing lengths define an RFLP.
Genetic linkage mapping: A method for locating genes by measuring how often genetic markers are inherited together. RFLP markers helped map disease genes before dense DNA sequencing was available.
Restriction mapping: The determination of restriction enzyme cut sites and their positions within a DNA molecule. Mapping DNA cuts supplied the experimental foundation for recognizing fragment-length differences.
Short tandem repeat: A DNA region containing a short sequence repeated consecutively, with repeat count varying among individuals. STR profiling replaced many RFLP applications with shorter assays and highly variable markers.
Restriction site: A DNA sequence recognized and cleaved by a particular restriction enzyme. A mutation that creates or removes one can change the number and lengths of fragments.
DNA profiling: The analysis of variable DNA features to distinguish individuals or biological samples. RFLP analysis was an early method for producing identifying DNA profiles.
Edwin Southern: A British molecular biologist who developed the DNA-transfer method known as Southern blotting. His blotting method enabled detection of particular fragments in early RFLP assays.
Single-nucleotide polymorphism: A variation at a single nucleotide position in a population’s DNA sequences. SNP genotyping detects sequence changes directly and supports far denser genome-wide analysis.
Agarose gel electrophoresis: A method that separates DNA molecules by size as they migrate through an agarose gel under an electric field. It separates restriction-digested DNA fragments into bands that can be compared.
Forensic science: The application of scientific methods to evidence used in legal investigations. RFLP profiles were used to compare biological evidence with reference samples.

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