20 To summarise

The human genome contains many gene variants that can, in some cases, lead to different amounts of functional CYP2D6 protein. This is also true for the many of the 20 000 protein-coding genes in the human genome. The relative frequency of genetic variants, however, differs between world populations, meaning that extrapolating the findings of genetic investigations from one population to another may not be appropriate.

We can use quantitative polymerase chain reaction as a sensitive analytical technique to detect gene variants and to determine gene copy number. There are limitations, however, to how data from single genetic tests are interpreted as other genetic variants might be present that have not been scored.

Experiment complete

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