Currently, there isn't any way of certainly concluding that a person is a carrier of this disease aside from DNA sequencing. However, one can conclude that an individual is a carrier when he/she has produced symptomatic offspring. However, mutations can also arise spontaneously, such as during recombination. Therefore, if ever I would include the parents of symptomatic individuals in my sampling population, there is no certainty that they have a mutation at all, which will be a waste of resources. The objective is to determine the frequency and prevalence of certain mutations (and not determine if there is a mutation at all) with the goal of using these certain mutations in making a diagnostic kit or carrier test panels. Should I just sample from a pool of symptomatic patients? Or should I look for carriers as well?
it is not strictly true that producing an affected child makes the parent a carrier. The father is not a carrier in mitochondrial disorders and either parent may not be a carrier in dominant transmission disorders. It would help to get an answer if we knew what the disorder in question is as this may help knowing dominant or recessive transmission and even if dominant transmission the penetrance will have an effect
Mutations that arise spontaneously is negligible when it comes to prevalence studies. Therefore, it is important to include carriers in case of alpha thalassemia.
Prevalence is difficult in disorders which are selected for or against. Geographical and social factors will give hotspots of local mutations so often such data are only applicable to selected groups within a larger population. It seems to me that nature has done much of your work in selecting 2 mutations if you only look at affected patients and if you have a large affected group then the incidence of individual mutations will reflect the incidence in the overall population. Using patients also gets around the possibility of non-paternity in some populations
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