Analysis of the Complete Coding Region of the CFTR Gene in Ten Algerian Cystic Fibrosis Families

Loumi, Ourida; Baghriche, M.; Delpech, Marc; Kaplan, Jean‐Claude; Bienvenu, T.

doi:10.1159/000022849

Cited by 12 publications

(14 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Two common mutations previously reported in Arab populations, including c.3601Ϫ111GϾC 52 and c.3120ϩ1kbdel8.6kb, 53 were not assayed in this study because they were outside the genomic regions amplified by PCR. Six additional mutations reported in at least two other Arab populations, including c.711ϩ1GϾA, p.R75X, c.1548delG, c.3120ϩ1GϾA, c.3199del6, and p.S549R, 30,42,[53][54][55][56] could have been detected in our assay but were not found in Iran.…”

Section: Discussionmentioning

confidence: 70%

A Haplotype Framework for Cystic Fibrosis Mutations in Iran

Elahi

Kazemi

Kupershmidt

et al. 2006

The Journal of Molecular Diagnostics

View full text Add to dashboard Cite

This is the first comprehensive profile of cystic fibrosis transmembrane conductance regulator (CFTR) mutations and their corresponding haplotypes in the Iranian population. All of the 27 CFTR exons of 60 unrelated Iranian CF patients were sequenced to identify diseasecausing mutations. Eleven core haplotypes of CFTR were identified by genotyping six high-frequency simple nucleotide polymorphisms. The carrier frequency of 2.5 in 100 (1 in 40) was estimated from the frequency of heterozygous patients and suggests that contrary to popular belief, cystic fibrosis may be a common, underdiagnosed disease in Iran. A heterogeneous mutation spectrum was observed at the CFTR locus in 60 cystic fibrosis (CF) patients from Iran. Twenty putative disease-causing mutations were identified on 64 (53%) of the 120 chromosomes. The five most common Iranian mutations together represented 37% of the expected mutated alleles. The most frequent mutation, ⌬F508 (p.F508del), represented only 16% of the expected mutated alleles. The next most frequent mutations were c.1677del2 (p.515fs) at 7.5%, c.4041C>G (p.N1303K) at 5.6%, c.2183AA>G (p.684fs) at 5%, and c.3661A>T (p.K1177X) at 2.5%. Three of the five most frequent Iranian mutations are not included in a commonly used panel of CF mutations, underscoring the importance of identifying geographic-specific mutations in this population.

show abstract

Section: Discussionmentioning

confidence: 70%

A Haplotype Framework for Cystic Fibrosis Mutations in Iran

Elahi

Kazemi

Kupershmidt

et al. 2006

The Journal of Molecular Diagnostics

View full text Add to dashboard Cite

show abstract

“…In Algeria, no information is available about the incidence of CF and, in general, there are few data on the molecular basis of CF in the Maghrib, probably due to underdiagnosis [3][4][5]. F508del is found on only 20% of the CF chromosomes in Algeria [6] and Tunisia. Up to now, about 30 other mutations have been reported, most of which were previously described in other populations.…”

Section: Introductionmentioning

confidence: 99%

CFTR mutations in the Algerian population

Loumi

Férec

Mercier

et al. 2008

Journal of Cystic Fibrosis

Self Cite

View full text Add to dashboard Cite

The nature and frequency of the major CFTR mutations in the North African population remain unclear, although a small number of CFTR mutation detection studies have been done in Algeria and Tunisia, showing largely European mutations such as F508del, G542X and N1303K, albeit at different frequencies, which presumably emerged via population admixture with Caucasians. Some unique mutations were identified in these populations. This is the first study that includes a genetic and clinical evaluation of CF patients living in Algeria. In order to offer an effective diagnostic service and to make accurate risk estimates, we decided to identify the CFTR mutations in 81 Algerian patients. We carried out D-HPLC, chemical-clamp denaturing gradient gel electrophoresis, multiplex amplification analysis of the CFTR gene and automated direct DNA sequencing. We identified 15 different mutations which account for 58.5% of the CF chromosomes. We used a quantitative PCR technique (quantitative multiplex PCR short fragment fluorescence analysis) to screen for deletion/duplication in the 27 exons of the gene. Taking advantage of the homogeneity of the sample, we report clinical features of homozygous CF patients. As CFTR mutations have been detected in males with infertility, 46 unrelated Algerian individuals with obstructive azoospermia were also investigated.

show abstract

“…Over 1500 CFTR sequence changes have been described, F508del being the most frequent mutation, along with geographic and ethnic variations in their distribution and frequency [1,2]. Little is known about the spectrum and frequency of CFTR gene mutations in North African populations: data are available on CF patients living in Algeria and Tunisia [3][4][5] and on CF Moroccan patients living in Europe [1,6]. To our knowledge, there is no data on the prevalence of CF mutations among the native Moroccan population.…”

Section: Introductionmentioning

confidence: 99%