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7 Cards in this Set

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SNP - single nucleotide polymorphisms

Single base-pair differences between individuals - many genetics disorders are due to a single base-pair change in the DNA of the related disease gene

RFLP - restriction fragment length polymorphism

Variation in the lengths of fragments generated by treatment of DNA with a particular restriction enzyme. They result from point mutations that create or destroy restriction enzymes cleavage sites.

PCR-RFLP Analysis

1) Design primers to PCR-amplify a region containing the point mutation


2) Digest the amplified fragment with the RE (BamHI)


3) Use gel to determine the sizes of fragments produced


4) Mutant DNA will give a different digestion pattern

STR - Short tandem repeats

Aka microsatellites


PCR detection; for forensics


A type of DNA polymorphism involving variation in the number of short, identical sequences that are tandemly repeated at a particular locus in the genome.

VNTR - variable number of tandem repeats

Aka minisatellites


RE digest and southern blotting; paternity testing


A type of DNA polymorphism involving variation in the number of identical sequences (7 bp+) that are tandemly repeated at a particular locus in the genome

Unique VNTR

Only one copy present in the genome (each person has 2 bands)

Multicopy VNTR

Many copies scattered around the genome


A probe that detects a family of this loci may reveal multiple bands in an autoradiogram