"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 variations. Cost is a key consideration. A reagent that costs $2 per sample is fine for routine lab work, but it becomes prohibitively expensive when that ...
