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G Aubin

Publications and source records attributed to G Aubin.

40 records · Page 3Linked to original sources
PubMedDate not supplied

Genealogy and geographical distribution of CFTR mutations in Saguenay Lac-Saint-Jean (Quebec, Canada).

Saguenay Lac-Saint-Jean (SLSJ), a region located in northeastern Quebec, has a high incidence of cystic fibrosis (CF). During the past few years the majority of the CF patients have been genotyped. The geographical distribution of the birth places of the patients and obligate carriers of the 621 + 1G-->T, the A455E and the delta F508 mutations (which accounted for 89% of the CF chromosomes) showed differences that can be explained by some degree of isolation but also by differential migration. The mean inbreeding and kinship coefficients were higher among the various CFTR mutation groups than in the general population. An ancestor couple common to most of the A455E carriers was identified. These data further substantiate the role of founder effect in the CF population of SLSJ.

Cystic Fibrosis↗
PubMedDate not supplied

Phenotypic variability in five cystic fibrosis patients compound heterozygous for the Y1092X mutation.

Five cystic fibrosis (CF) patients distributed in three families and compound heterozygotes for the Y1092X mutation have been followed for a period ranging from 5 to 20 years. The genealogical reconstruction identified a common ancestor couple to all 3 families at the 5th generation. All 5 patients were pancreatic insufficient. A high variability in the clinical aspects and pulmonary function was seen between the families, but not within. Based on our observations, it will be very difficult to predict the course of disease for CF patients with the Y1092X mutation, even if they are closely related (first-degree cousins).

Adolescent↗