Human Genome Project has identified human genetic mutations, Using a DNA machine, a fragment of single stranded DNA with a complementary nucleotide sequence to the mutated allele is made. This is called a probe., PCR makes multiple copies of this DNA probe, This is then labelled with either a radioactive isotope or a fluorescent chemical, Patient's own DNA sample is denatured by heating it to break the Hydrogen bonds between the bases, The DNA is allowed to cool to allow the probe to anneal, if the mutation is present the probe will bind or anneal to its complementary nucleotide sequence, if the probe is radioactively labelled regions where the primer has bound will expose X ray film, If, on the other hand, the probe has a fluorescent tag, the primer will glow under UV light if it located the mutation.

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