Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1families

Table 3 Estimation of proportion of population sampled and corresponding prevalence estimates for the p.R518X founder mutation

Probands sharing haplotype	Mutation age-span^a	Population growth rates,%	Proportion sampled	Best fit	Estimated probands	Estimated prevalence^b
17	26-29	25-27	0.02-0.04	0.03	425-850	~1:2-4000

Estimates calculated using the DMLE computer software (http://www.dmle.org).
^a In generations.
^b Calculated as: the Swedish population size/(estimated probands × [identified mutation-carriers in founder families/probands]), i.e.:
(lower bound) 9.5 × 10⁶/ (425 × [99/17]) = 1:3838.
(upper bound) 9.5 × 10⁶/ (850 × [99/17]) = 1:1919.

ISSN: 1471-2261