ABCMdb

PMID: 17627383

Knezevic J, Tanackovic G, Matijevic T, Barisic I, Pavelic J
Analysis of cystic fibrosis gene mutations and associated haplotypes in the Croatian population.
Genet Test. 2007 Summer;11(2):133-8., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Glu585* ABCC7 p.Gly85Glu ABCC7 p.Tyr569Cys ABCC7 p.Ser466* Among 96 tested alleles, we found nine different mutations: ⌬F508, 58.33%; G542X, 3.12%; N1303K, 2.08%; R1162X; 621 ؉ 1G→T; G85E; Y569C; E585X; and S466X, 1.04%. Login to comment 5 ABCC7 p.Gly542* Both of these haplotypes also carried a CFTR gene mutation (⌬F508 or G542X) on 27 out of 32 chromosomes. Among 12 (of all together 29) CF alleles on which no mutations were found, we detected 10 different haplotypes. Login to comment 11 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Only four other mutations, G542X, G551D, N1303K, and W1282X, are relatively frequent in the European population (1-2.5%) (Morral et al., 1996). Login to comment 39 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser1251Asn ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr ABCC7 p.Gln552* ABCC7 p.Glu60* INNOGENETICS INNO-LIPA CFTR 12 and INNO-LIPA CFTR 7 ϩ Tn diagnostic kits were used to assess the presence of the 29 mutations in CF patients; ⌬F508, ⌬I507, G542X, N1303K, 1717-1G Ǟ A, W1282X, G551D, R553X, S1251N, R560T, 3905insT, Q552X, 394delTT, G85E, E60X, 621 ϩ 1G Ǟ T, R117H, 1078delT, R347P, R334W, 2143delT, 2183AA Ǟ G, 2184delA, 711 ϩ 5G Ǟ A, 2789 ϩ 5G Ǟ A, R1162X, 3659delC, 3849 ϩ 10kbC Ǟ T, and A455E. Login to comment 48 ABCC7 p.Glu585* ABCC7 p.Tyr569Cys ABCC7 p.Ser466* In this way, we detected three additional mutations, in exons 10 (S466X) and 12 (Y569C and E585X) (Fig. 1). Login to comment 50 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Glu585* ABCC7 p.Gly85Glu ABCC7 p.Tyr569Cys ABCC7 p.Ser466* Nine different mutations were found: ⌬F508 (58.33%), G542X (3.12%), N1303K (2.08%), R1162X, 621 ϩ 1G Ǟ T, G85E, Y569C, E585X, and S466X (1.04%). Login to comment 62 ABCC7 p.Ser466* A: Mutation S466X in exon 10, Ser to stop codon at 466. Login to comment 63 ABCC7 p.Tyr569Cys ABCC7 p.Tyr569Cys B: Mutation Y569C in exon 12, Tyr to Cys at 569. Login to comment 64 ABCC7 p.Glu585* C: Mutation E585X in exon 12, Glu to stop codon at 585. Login to comment 76 ABCC7 p.Gly542* Of three CFTR alleles with the G542X mutation, two had the 21-23-13 haplotype. Login to comment 77 ABCC7 p.Gly85Glu G85E was associated with haplotype 22-16-13 and 621 ϩ 1G Ǟ T was found on haplotype 21-2113 (Table 4). Login to comment 81 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Glu585* ABCC7 p.Glu585* ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Tyr569Cys ABCC7 p.Tyr569Cys ABCC7 p.Ser466* ABCC7 p.Ser466* MUTATIONS AND CORRESPONDING GENOTYPES OBSERVED IN A CROATION COHORT OF CF PATIENTS Number of affected Number of detected Mutation alleles (%) Genotype genotypes (%) ⌬F508 56 (58.33) ⌬F508/⌬F508 19 (39.58) G542X 3 (3.12)0 ⌬F508/Na 7 (14.58) N1303K 2 (2.08)0 ⌬F508/G542X 3 (6.25)0 R1162X 1 (1.04)0 ⌬F508/N1303K 2 (4.17)0 621ϩ1G→T 1 (1.04)0 ⌬F508/R1162X 1 (2.08)0 G85E 1 (1.04)0 ⌬F508/621ϩ1G→T 1 (2.08)0 Y569C 1 (1.04)0 ⌬F508/G85E 1 (2.08)0 E585X 1 (1.04)0 ⌬F508/Y569C 1 (2.08)0 S466X 1 (1.04)0 ⌬F508/E585X 1 (2.08)0 Na 29 (30.21) ⌬F508/S466X 1 (2.08) Na/Na 11 (22.92) Total 96b Total 48c aAlleles without mutation. Login to comment 89 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The most frequent was ⌬F508 (65%), followed by G542X (5%), N1303K, and 1717-1G Ǟ A (3.3%). Login to comment 100 ABCC7 p.Gly542* The two most often seen haplotypes (21-23-13 and 21-17-13) carried either ⌬F508 or G542X in 75% of tested chromosomes (27 out of 36). Login to comment 112 ABCC7 p.Gly542* ABCC7 p.Gly85Glu ASSOCIATION BETWEEN MICROSATELLITE HAPLOTYPES AND CFTR GENE MUTATIONS IN A CROATIAN COHORT OF CF PATIENTS Haplotype Number of haplotypesa (%) Mutationsb No mutationc 21-23-13 20 (40) ⌬F508 (15) 3 G542X (2) 21-17-13 12 (24) ⌬F508 (10) 2 21-25-13 3 (6)0 ⌬F508 (3) / 21-21-13 2 (4)0 ⌬F508 (1) / 621ϩ1G→T (1) / 20-23-13 2 (4)0 ⌬F508 (2) / 22-17-13 1 (2)0 ⌬F508 (1) / 22-16-13 1 (2)0 G85E (1) / 25-17-13 1 (2)0 1 25-16-14 1 (2)0 1 26-16-13 1 (2)0 1 21-16-13 2 (4)0 2 22-23-13 1 (2)0 1 23-23-13 1 (2)0 1 19-23-13 1 (2)0 1 22-16-17 1 (2)0 1 aNumber of alleles with the corresponding haplotype. Login to comment 118 ABCC7 p.Glu585* ABCC7 p.Tyr569Cys ABCC7 p.Ser466* Direct sequencing of the coding region slightly raised the sensitivity of mutation analysis by detection of three relatively rare mutations, in exons 10 (S466X) and 12 (Y569C, E585X), already described by others (Cremonesi et al., 1992; Deufel et al., 1994; Petreska et al., 1996). Login to comment