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If a large number of different point mutations are sought, as is often the case, the most appropriate technology may be microarray hybridization analysis, which can test for tens to hundreds of thousands of different point mutations in the same sample simultaneously.
The differences are even more dramatic when dominant mutations are sought.
However, in most schemes, as illustrated in Figure 1A, recessive mutations are sought, whose presence cannot be discerned in the F1 generation.
It then seems incongruous that when considering why a breast cancer cell has a difference in phenotype from a normal breast epithelial cell (differences that in comparison are relatively small) explanations seem to require solely a genetic basis and a series of mutations are sought to explain every change in phenotype that is required to acquire the hallmarks of a cancer cell (Fig. 3).
Both of these potential selection biases may be avoided through the use of a retrospective design in which BRCA1/ BRCA2 mutations are sought in archival tissue from women who have undergone treatment for cancer, and in whom the clinical outcomes are known.
Similar(55)
In order to determine the role of germline p53 mutations in genetic predisposition to childhood cancer, germline p53 mutations were sought in individuals with at least one relative (first- or second-degree relative or first cousin) affected by any cancer before 46 years of age, or affected by multiple cancers.
Under these conditions, nact≈m(1−p), and progress is determined by the type of mutation being sought (e.g. recessive, dominant), and by the number of F2 animals screened.
If the mutation being sought is predicted to behave in a simple dominant fashion, then counting how many F1 animals were examined is trivial, and is precisely equal to the number of F1 animals picked, that is, nact = n (e.g. Table 1).
First, we have shown that the optimal screening strategy does not depend on the total amount of effort expended in a screen, but only depends on the ratio of the work involved in picking F1 animals to the work expended in picking and scoring F2 animals, and on the type of mutation being sought.
For such a screen, only mutations induced on the marked, non-balancer chromosome are sought, and a = 1.
There are, of course, occasional mutations that may greatly improve a variety and these are sought, selected, and propagated.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com