ABCMdb

PMID: 14963811

Luzardo G, Aznarez I, Crispino B, Mimbacas A, Martinez L, Poggio R, Zielenski J, Tsui LC, Cardoso H
Cystic fibrosis in Uruguay.
Genet Mol Res. 2002 Mar 31;1(1):32-8., [PubMed]

Sentences

No. Mutations Sentence Comment

36 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The CFTR mutations were detected by using one or more of the following methods: a) Reverse hybridization technique for eight mutations frequent in Europe (∆F508, G542X, N1303K, 1717-1G→A, W1282X, G551D, R553X and ∆I507), using a commercial kit from Inno Lipa CF2, Innogenetics, Belgium. Login to comment 37 ABCC7 p.Arg334Trp ABCC7 p.Gly85Glu b) The G85E, R334W and 3120+1G→Amutations, common in the Spanish population, were analyzed by restriction enzyme analysis (Gasparini et al., 1991; Zielenski et al., 1991). Login to comment 42 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Asp1270Asn ABCC7 p.Arg74Trp ABCC7 p.Gly85Glu ABCC7 p.Arg75Gln ABCC7 p.Arg1066Cys RESULTS Genetic analysis led to the detection of 15 different mutations: ∆F508, G542X, R1162X, G85E, N1303K, R334W, R75Q, R74W, D1270N, W1282X, ∆I507, 2789+5G→A, R1066C, R553X and -816C/T. Login to comment 47 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Asp1270Asn ABCC7 p.Gly85Glu ABCC7 p.Arg75Gln ABCC7 p.Arg1066Cys Mutation Cumulative (%)%N ∆F508 G542X R1162X G85E N1303K R334W R75Q Other mutations* Unknown 42 6 3 3 3 2 2 13 30 40.4 5.7 2.9 2.9 2.9 1.9 1.9 12.5 28.9 40.4 46.1 49.0 51.9 54.9 56.7 58.6 71.1 99.9 *R74W, D1270N, W1282X, ∆I507, 2789+5G→A, R1066C, -816C/T, R553X, 5T (3 cases associated to other mutations, 2 cases without known second mutation). Login to comment 49 ABCC7 p.Gly542* The most prevalent mutation, ∆F508, was found in 42/104 CF chromosomes, with the second most common allele being the G542X (6/104). Login to comment 59 ABCC7 p.Trp1282* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Asp1270Asn ABCC7 p.Arg74Trp ABCC7 p.Gly85Glu ABCC7 p.Arg75Gln ABCC7 p.Arg1066Cys ABCC7 p.Arg553Lys Genotypes N Percent ∆F508/∆F508 ∆F508/R1162X ∆F508/G85E ∆F508/G542X ∆F508/5T ∆F508/R334W ∆F508/1303X ∆F508/R1066C ∆F508/Unknown ∆I507/2789+G-A R74W/D1270N N1303K/G542X N1303K/R553K -816C-T/5T 5T/Unknown G542X/Unknown R75Q/Unknown W1282X/Unknown Unknown/Unknown 8 3 3 3 2 2 1 1 11 1 1 1 1 1 2 2 2 1 6 15.4 5.8 5.8 5.8 3.9 3.9 1.9 1.9 21.2 1.9 1.9 1.9 1.9 1.9 3.9 3.9 3.9 1.9 11.5 All individuals had pulmonary symptoms.All those carrying the ∆F508/∆F508 genotype had pancreatic insufficiency. Login to comment 89 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* We have also observed differences in the distribution and frequencies of non-∆F508 mutations between Uruguayans and patients from other LatinAmerican countries, in particular compared to theArgentinean population.AmongArgentine CF patients, seven mutations (∆F508, G542X, W1282X, N1303K, 17171G→A, R553X, R1162X) constituted 67.5% of the observed alleles (Chertkoff et al., 1997), while in our population 15 mutations corresponded to a similar cumulative percentage (71%). Login to comment 90 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* There is an agreement between the most common Uruguayan CFTR mutations (∆F508, G542X, R1162X, N1303K, R334W, W1282X and R553X) and those reported in the geographical regions from where most Uruguayans`ancestors originated, namely, Spain, the Canary Islands, Italy and the Basque regions. Login to comment 98 ABCC7 p.Gly551Asp ABCC7 p.Gly542* In U.S. CF patients, only three mutations (∆F508, G542X, G551D) have gene frequencies higher than 2%, and altogether represent 72.5% of the CF chromosomes with a ∆F508 frequency of 68% (Cystic Fibrosis Foundation, 1997). Login to comment 99 ABCC7 p.Trp1282* ABCC7 p.Gly542* TheArgentine study shows similar proportions, with three mutations with a gene frequency exceeding 2% and covering 64% of the total number of chromosomes (∆F508 = 57.0%, G542X = 3.94%, W1282X = 3.07%; Chertkoff et al., 1997). Login to comment