In Search of Genomic Variation

The fairly nebulous term mutation detection addresses two fundamentally different questions: "Do any mutations-or, more broadly, polymorphisms or variations-exist in a given gene?" "How frequently does a specific mutation occur in a population?" Getting the answer to each question presents different challenges, and scientists must address each using different technologies. The first question is answered with mutation scanning or screening techniques, the second with mutation scoring, or genot

Laura Defrancesco
Oct 28, 2001
The fairly nebulous term mutation detection addresses two fundamentally different questions: "Do any mutations-or, more broadly, polymorphisms or variations-exist in a given gene?"

"How frequently does a specific mutation occur in a population?"

Getting the answer to each question presents different challenges, and scientists must address each using different technologies. The first question is answered with mutation scanning or screening techniques, the second with mutation scoring, or genotyping methods. Because mutation-scoring technologies were reviewed last year,1 screening techniques are addressed here.

A world of difference exists between mutation screening and mutation scoring, says Joe Rudolph, a senior applications scientist at Omaha, Neb.-based Transgenomic. Many companies offer products for "SNP (single nucleotide polymorphism) detection," which are really scoring technologies. To actually screen for polymorphisms requires a tremendous amount of time and resources. Such studies require genetic material from hundreds or thousands of individuals, especially when hunting for rare...