Restriction fragment length polymorphisms (RFLPs) were the first type of molecular markers used in linkage studies. RFLPs arise because mutations can create or destroy the sites recognized by specific restriction enzymes, leading to variations between individuals in the length of restriction fragments produced from identical regions of the genome.
Differences in the sizes of restriction fragments between individuals can be detected by Southern blotting with a probe specific for a region of DNA known to contain an RFLP. The segregation and meiotic recombination of such DNA polymorphisms can be followed like typical genetic markers.RFLP analysis of a family can detect the segregation of an RFLP that can be used to test for statistically significant linkage to the allele for an inherited disease or some other human trait of interest.
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