TY - JOUR T1 - Correlation between mutations and age in cystic fibrosis in a French Canadian population JF - Journal of Medical Genetics JO - J Med Genet SP - 225 LP - 227 DO - 10.1136/jmg.37.3.225 VL - 37 IS - 3 AU - SYLVAIN R RIVARD AU - CHRISTIAN ALLARD AU - JEAN-PIERRE LEBLANC AU - MARCEL MILOT AU - GERVAIS AUBIN AU - FERNAND SIMARD AU - CLAUDE FÉREC AU - MARC DE BRAEKELEER Y1 - 2000/03/01 UR - http://jmg.bmj.com/content/37/3/225.abstract N2 - Editor—Cystic fibrosis (CF) is the most common, lethal, autosomal recessive childhood disorder in the white population, occurring in about 1 in 2500 live births.1 The incidence (1975-1995) is 1 in 936 live births, with a carrier rate of 1 in 15 in inhabitants of Saguenay-Lac-Saint-Jean (SLSJ), a geographically isolated region in north eastern Quebec.2 One hundred and sixty three patients in 143 families are known at the “Clinique de la Fibrose Kystique” in Chicoutimi (Saguenay), which is the referral centre for the whole region (285 000 inhabitants) and has followed all the CF patients but one since 1973. Molecular characterisation has been performed on all identified living CF patients.3 Three mutations account for 94.4% of the CF chromosomes; these are the ΔF508 (64.1%), 621+1G→T (22.6%), and A455E (7.7%) mutations.SLSJ offers a unique opportunity to investigate whether there is a relationship between CFTR genotype, mutation, and survival. Indeed, all the CF patients are followed by the same multidisciplinary team, one of the paediatricians having been affiliated with the clinic … ER -