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In the article “Distribution of CFTR mutations in Saguenay–Lac-Saint-Jean: proposal of a panel of mutations for population screening” which appeared in the March 2008 issue, an error appeared in Figure 2. The corrected figure and legend appear below.
Fig. 2Distribution of the CFTR alleles in the Saguenay–Lac-Saint-Jean population in comparison with three other populations of the Province of Quebec. This figure illustrates the percentage of six cystic fibrosis transmembrane conductance regulator (CFTR) alleles in four populations; subjects from A) the Chicoutimi CF clinic in the Saguenay–Lac-Saint-Jean (SLSJ) region, B) the Sherbrooke CF clinic, C) the two CF clinics representing the Francophone population of Montreal, and D) the two CF clinics representing the Anglophone and multi-ethnic population of Montreal. The three most common alleles in the SLSJ population are the ΔF508, 621+1G>T and A455E mutations. The frequency of the ΔF508 mutation is lower in the SLSJ population than in the others Francophones population (p = 0.011) but the frequency of the 621+1G>T and A455E mutation is greater in this region than in any other region described here (p < 10−12 and p = 0.004 for the Francophone populations and p < 10−7 and p = 0.013 for the Anglophone and multi-ethnic population respectively). Moreover, the percentage of unknown alleles is only of 0.59% in the SLSJ region. It is lower than any other regions described in this study (p = 0.027 in Francophone and p ≤ 10−8 in Anglophone and multi-ethnic populations).
Madore A-M, Prévost C, Dorfman R, Taylor C, Durie P, Zielenski J, Laprise C. Distribution of CFTR mutations in Saguenay–Lac-Saint-Jean: proposal of a panel of mutations for population screening. Genet Med 2008;10:201–216.
In the article “A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study” which appeared in the July 2008 issue, an author's name was misspelled. It should have appeared as Alice Jaques.
Metcalfe S, Jacques A, Archibald A, et al. A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study. Genet Med 2008;10:525–535.
Saguenay–Lac-Saint-Jean is a region located in the northeastern part of the Province of Quebec, Canada, and is characterized by a founder effect. In this region, it has been documented that the incidence of cystic fibrosis reached 1/902 live births between 1975 and 1988, three times higher than the average incidence of 1/2500 live births reported in other Caucasian populations. This corresponds to a carrier rate of 1/15.
To develop a model of offering population carrier screening for fragile X syndrome to nonpregnant women in primary care, using a program evaluation framework.