The Irish cystic fibrosis database.

Cashman, Siobhan M.; Patiño, Ana; Delgado, Melissa; Byrne, Lisa; Denham, B; Arce, M. De

doi:10.1136/jmg.32.12.972

Cited by 21 publications

(23 citation statements)

References 22 publications

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“…We noted similar high frequencies of the F508del and G551D mutations in the three cohorts studied. This last molecular anomaly is mainly found in Celtic populations (Cashman et al, 1995a;1995b;Hamosh et al, 1992). It has been associated with 5.5% of CF chromosomes in Scotland, 3.8% in Czech Republic and 3.7% in Northern Ireland (Bobadilla et al, 2002).…”

Section: Resultsmentioning

confidence: 93%

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland

et al. 2003

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This study aims to compare the spectrum of the mutations identified in the gene responsible for cystic fibrosis in three cohorts of patients of Celtic origin from Brittany and Ireland. It included 389 patients from Brittany, 631 from Dublin and 139 from Cork. The CFTR gene analysis relied on the detection of the most common mutations, followed by a complete gene scanning using DGGE or D-HPLC. High mutation detection rates were obtained in each cohort: 99.6%, 96.8%, and 96.0% respectively. A high frequency of the c.1652_1655 del3 mutation (F508del: 74.8% to 81.3%) and of the "Celtic" mutation (c.1784G>A (G551D): 3.7% to 9.7%) was observed in each population. Apart from this, the mutation spectrums differed. In Brittany, the most common abnormalities were: c.1078delT (3.6%), c.4041C>G (N1303K: 1.4%), c.2670G>A (W846X(2): 1.0%) and c.1717-1G>A (1.0%), whereas in the cohort of Dublin, the main mutations were: c.482G>A (R117H: 3.0%), c.1811G>C (R560T: 2.4%) and c.621+1G>T (1.7%). Finally, in the Cork area, only the c.482G>A mutation (R117H) reached a frequency of 1%. Two previously-unreported mutations were identified in the Dublin cohort: c.2623-2A>G and c.3446T>G (M1105R). This collaborative study highlights the similarities of the CFTR alleles in the Breton and Irish populations, but also the disparities that exist between these populations, despite their common origin. Each population has its own history, with its mixture of founder effects and genetic drifts, which are at the origin of the current mutation distribution. The molecular study of the CFTR gene provides new tools for retracing European populations' histories.

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Section: Resultsmentioning

confidence: 93%

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland

et al. 2003

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“…On the other hand, several mutations are associated with several microsatellite haplotypes, as a result of slippage (G85E, E585X, K710X and 2184delA) or recombination (1717-1G→A, R334W, L206W, R1162X and Y122X). Several mutations are associated with the same diallelic haplotypes, as described previously (Morral et al 1993;and in press;Cashman et al 1995;Russo et al 1995), but with microsatellites that differ at one of the microsatellite loci by one repeat (K710X and Y1092X, Morral et al in press;and1078delT, Russo et al 1995). Mutation 1717-1G→A is associated with the same haplotypes as described in Russo et al (1995) and Morral et al (in press), but is very different from that reported by Cashman et al (1995) (16/17-32-13 and XV-2c/KM.19 1-1 or 2-1, instead of 1-2), suggesting an independent origin of this mutation in Irish chromosomes.…”

Section: ∆F508 G542x and N1303kmentioning

confidence: 85%

CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France

et al. 1996

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In order to contribute to a better understanding of the dispersion of cystic fibrosis (CF) mutations in the South of France, seven diallelic and three multiallelic markers [three upstream of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (XV-2c, KM 19 and J44) and seven intragenic polymorphism (IVS6A, IVS8CA, M470V, T854T, IVS17BTA, IVS17BCA and TUB18)] were analyzed for 143 delta F508 chromosomes, 100 CF chromosomes carrying 85 non-delta F508 and 15 unknown mutations, and 198 normal CFTR alleles. The study provides haplotypic data for 39 different CF mutations, which should be useful in diagnosis by haplotypic analysis and detection of the associated mutations. A major haplotype [2-1-2-7-16-2-1-(30/31)-13-1] was found in normal chromosomes, which should be the most ancient in the Caucasoid population. The most frequent haplotypes in normal chromosomes were associated with 16 different non-delta F508 mutations, suggesting that there was no preferential haplotype on which these mutations arose. Several mutations were each associated with more than one haplotype, as the result of slippage at one or two of the three microsatellites (delta F508, G542X, N1303K, G85E, E585X, K710X and 2184delA) or recombination (1717-1G-->A, R334W, L206W, R1162X and Y122X). Haplotypes for the most common CFTR mutations (delta F508, G542X, N1303K) revealed that a large number of alleles were generated by slippage at the microsatellite loci, suggesting that they are the most ancient CF mutations. Other mutations were associated with haplotypes that were different either at several diallelic sites (R334W) or at both diallelic and microsatellite markers (R1162X and R1158X), which is more suggestive of recurrence. Twenty recombinations were detected among the CF mutant alleles analyzed, 75% of them occurring in the second half of the CFTR gene. The higher mutational heterogeneity and the haplotypic variability reported in this small population from the Mediterranean area are consistent with an earlier appearance of CFTR mutations in southern Europe than in central and northern Europe, and an earlier origin and expansion of this population.

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“…12 The frequency of CFTR mutations recorded for just over 1000 patients for the Irish CF Database include G551D in 7%, R117H in 2% and DF508 in 72% of patients. 13 In the white South African population, a paper based on 192 patients found that DF508 accounts for 76% of the mutations with 3272-26A?G (4%), 394delTT (3.6%) and G542X (1.3%) the other most common mutations. 14 It is suggested that the 3272-26A?G and 394delTT mutations are more common due to a founder effect in white South Africans of European descent.…”

Section: Cftr Mutations In Caucasiansmentioning

confidence: 99%

Demographics of the UK cystic fibrosis population: implications for neonatal screening

et al. 2002

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The Irish cystic fibrosis database.

Cited by 21 publications

References 22 publications

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland

CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France

Demographics of the UK cystic fibrosis population: implications for neonatal screening

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