ABCMdb

PMID: 9550360

De Braekeleer M, Mari C, Verlingue C, Allard C, Leblanc JP, Simard F, Aubin G, Ferec C
Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada).
Clin Genet. 1998 Jan;53(1):44-6., [PubMed]

Sentences

No. Mutations Sentence Comment

18 ABCC7 p.Ala455Glu CFTR mutations in Saguenay LacSaint-Jean We previously reported, based on 91 families, that three mutations (AF508,621 +1G+T, and A455E) accounted for 90% of the CF chromosomes while eight mutations represented 93% of the mutations (6, 7). Login to comment 31 ABCC7 p.Ala455Glu ABCC7 p.Asn1303Lys ABCC7 p.Ile148Thr There were 11 patients with a AF508/AF508 genotype, two with AF508/621 +l G + T and one with AF508/A455E and N1303K/I148T genotype each. Login to comment 33 ABCC7 p.Ala455Glu ABCC7 p.Gly85Glu ABCC7 p.Arg1158* ABCC7 p.Tyr1092* ABCC7 p.Arg117Cys ABCC7 p.Gln890* Distributon of CFTR mutations in CF patients born in SLSJ Mutations No. CF chromosomes Proportion(%) AF508 120 621tlG-T 51 A455E 17 Y1092X 3 1148T 2 711+1G+T 2 G85E 1 Q890X 1 s489x 1 R117C 1 R1158X 1 60 25.5 8.5 1.5 1 1 0.5 0.5 0.5 0.5 0.5 Table 1 gives the distribution of the mutations found on the C F chromosomes from patients born in the SLSJ region. Login to comment 34 ABCC7 p.Ala455Glu Ninety four percent of the CF chromosomes were accounted for by only three mutations: AF508, 621 +1G+T and A455E. Login to comment 43 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Gly85Glu ABCC7 p.Arg1158* ABCC7 p.Arg117Cys ABCC7 p.Gln890* Distributionof CFtR genotypes in CF patients born in SLSJ Genotypes No. CF patients AFS08/AF508 AF5@/621+lG-T AF508/A455E 621t 1G+T/A455E 621t 1G+T/621 t 1G-T AF508,N109W AF508/1148T 621t1G+T/711 t1G+T 621t 1G+T/G85E 621t1G+T/YlO92X A455E/R117C 621+1G+TjS489X AF508/Q890X AF508/R1158X 37 30 6 5 2 2 2 1 1 1 1 1 1 45 De Braekeleer et al. identify 100% of the CFTR mutations in the CF population born in SLSJ. Login to comment 49 ABCC7 p.Arg1162* Two mutations accounted for all the CF chromosomes among the Pueblo Zuni population: R1162X was found on 11 chromosomesand 3849 +10kb C -,T was found on the sole remaining chromosome (15). Login to comment