Journal of Cystic Fibrosis
Volume 7, Issue 1 , Pages 54-59 , January 2008

CFTR mutations in the Algerian population

  • O. Loumi

      Affiliations

    • Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumediene, Bab-Ezzouar Alger, Algérie
    • Corresponding Author InformationCorresponding authors. O. Loumi is to be contacted at Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumediene, Bab-Ezzouar Alger, Algérie. C. Ferec, INSERM U613, Laboratoire de Génétique Moléculaire, 46 rue Félix Le Dantec–29200 Brest, France.
  • ,
  • C. Ferec

      Affiliations

    • INSERM U613, Laboratoire de Génétique Moléculaire, 46 rue Félix Le Dantec – 29200 Brest, France
    • Corresponding Author InformationCorresponding authors. O. Loumi is to be contacted at Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumediene, Bab-Ezzouar Alger, Algérie. C. Ferec, INSERM U613, Laboratoire de Génétique Moléculaire, 46 rue Félix Le Dantec–29200 Brest, France.
  • ,
  • B. Mercier

      Affiliations

    • INSERM U613, Laboratoire de Génétique Moléculaire, 46 rue Félix Le Dantec – 29200 Brest, France
  • ,
  • J. Creff

      Affiliations

    • INSERM U613, Laboratoire de Génétique Moléculaire, 46 rue Félix Le Dantec – 29200 Brest, France
  • ,
  • B. Fercot

      Affiliations

    • INSERM U613, Laboratoire de Génétique Moléculaire, 46 rue Félix Le Dantec – 29200 Brest, France
  • ,
  • R. Denine

      Affiliations

    • Hôpital ISSAD HASANI Beni-messous, Laboratoire de Biochimie, Algérie
  • ,
  • J.P. Grangaud

      Affiliations

    • Faculté de Médecine, Université d'Alger, Algérie

Received 22 March 2006 ,Revised 19 April 2007 ,Accepted 24 April 2007.

References 

  1. Kerem BS, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073–1080
  2. Rommens JM, Iannuzzi MC, Kerem BS, Drumm ML, Melmer G, Dean M, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989;245:1059–1064
  3. Cuppens H, Loumi O, Marynen P, Cassiman JJ. Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population. Hum Mol Genet. 1992 (Jul);1(4):283–284
  4. Loumi O, Cuppens H, Bakour R, Benabadji M, Baghriche M, Marynen P, et al. An Algerian child homozygous for the M470V polymorphism and for a deletion of two nucleotides in exon 10 of the CFTR gene, shows severe cystic fibrosis symptoms. Genet Couns. 1992;3(4):205–207
  5. Messaoud T, Verlingue C, Denamur E, Pascaud O, Quere I, Fattoum S, et al. Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet. 1996;4(1):20–24
  6. Loumi O, Baghriche M, Delpech M, Kaplan JC, Bienvenu T. Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families. Hum Hered. 1999;49(2):81–84
  7. Gouya L, Pascaud O, Munck A, Elion J, Denamur E. Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient. Hum Mutat. 1997;10(1):86–87
  8. Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C. Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide. Hum Mutat. 1995;6(1):23–29
  9. Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens JM, et al. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1991 (May);10(1):229–235
  10. Rommens J, Kerem BS, Greer W, Chang P, Tsui LC, Ray P. Rapid nonradioactive detection of the major cystic fibrosis mutation. Am J Hum Genet. 1990;46:395–396
  11. Oefner PJ, Underhill PA. DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC). Curr Prot Hum Genet. 1998;7:10.1–10.12
  12. Le Maréchal C, Audrézet MP, Quéré I, Raguénès O, Langonné S, Férec C. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum Genet. 2001;108:290–298
  13. Landegren U, Kaiser R, Sanders J, Hood L. A ligase-mediated gene detection technique. Science. 1998;214:1077–1080
  14. Don RH, Cox PT, Wainwright BJ, Baker K, Mattick JS. “Touchdown” PCR to circumvent spurious priming during gene amplification. Nucleic Acids Res. 1991;19:4008
  15. Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-lyonnet D, Frebourg T, et al. Rapid detection of novel BRCA1 rearrangements in high-risk breast–ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat. 2002;20:218–226
  16. Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Limacher JM, et al. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Res. 2000;60:2760–2763
  17. Duponchel C, Di Rocco C, Cicardi M, Tosi M. Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients. Hum Mutat. 2001;17:61–70
  18. Audrezet MP, Chen JM, Raguenes O, et al. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat. 2004;23:343–357
  19. Ferec C, Casals T, Chuzhanova N, Macek M, Bienvenu T, Holubova A, et al. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet. 2006 (Feb 22);[electronic publication ahead of print]
  20. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, et al. Analysis of any point mutation in DNA. The Amplification Refractory Mutation System (ARMS). Nucleic Acids Res. 1989;17:2503–2516
  21. Fulton RJ, McDade RL, Smitj PL, Kienker LJ, Kettman JR. Advanced multiplexed analysis with the FlowMetrix™ system. Clin Chem. 1997;43:1749–1756
  22. Johnson SC, Marshall DJ, Harms G, Benner SA, Farrell PM, Prudent JR. Multiplexed genetic analysis using an expanded genetic alphabet. Clin Chem. 2004;50:11
  23. Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med. 1995;332:1475–1480
  24. Verlingue C, David A, Audrezet MP, Le Roux MG, Mercier B, Moissan JP, et al. Asymptomatic carrier of two CFTR mutations: consequences for prenatal diagnosis?. Prenat Diagn. 1993;13:1143–1148
  25. Claustres M, Guittard C, Bozon D, Verlingue C, Ferec C, Girodon E, et al. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Human Mutat. 2000;16:143–156
  26. Kerem E, Corey M, Kerem BS, Rommens J, Markiewicz D, Levison H, et al. The relation between genotype and phenotype in cystic fibrosis – analysis of the most common mutation ΔF508. N Engl J Med. 1990;323:1517–1522
  27. Desgeorges M, Kjelleberg P, Demaille J. A healthy male with compound and double heterozygosities for ΔF508, F508C and M470V in exon 10 of the cystic fibrosis gene. Am J Hum Genet. 1994;54:384–385
  28. The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis population. Hum Mutat. 1994;4:167–177
  29. Estivill X, Bancells C, Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum Mutat. 1997;10(2):135–154
  30. Chevalier-Porst F, Bonardot AM, Gilly R, Chazalette JP, Mathieu M, Bozon D. Mutation analysis in 600 French cystic fibrosis patients. J Med Genet. 1994, Jul;31(7):541–544
  31. Rozen R, De Braekeleer M, Daigneault J, Ferreira-Rajabi L, Gerdes M, Lamoureux L, et al. Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. Am J Med Genet. 1992;1;42(3):360–364
  32. Dork T, Macek M, Mekus F, Tummler B, Tzountzouris J, Casals T, et al. Characterization of a novel 21-kb deletion, CFTRdele2,3 (21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet. 2000;106:259–268
  33. Fonknechten N, Chomel JC, Kitzis A, Kahn A, Kaplan JC. Skipping of exon 5 as a consequence of the 711+1 G→T mutation in the CFTR gene. Hum Mol Genet. 1993;1:281–282
  34. Zielenski J, Bozon D, Markiewicz D, Aubin G, Simard F, Rommens JM, et al. Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621+1G→T and 711+1G→T mutations. Hum Mol Genet. 1993, Jun;2(6):683–687
  35. Kabra M, Wallace AJ, Ghosh M, Kabra SK, Verma IC. Is the spectrum of mutations in Indian patients with cystic fibrosis different?. Am J Med Genet. 1995;11(4):410
  36. Quere C. Diagnostic de mucoviscidose: difficultés d'interprétation du test de la sueur à l'heure de la biologie moléculaire. Thèse 1996; p 45; 73.
  37. Miller PW. CFTR mutations and adult pulmonary disease. 8th Annual North American cystic fibrosis conference. Orlando 20–23/10/1994. Pediatr Pulmonol. 1994 (Sept);Suppl. 10:137–138

PII: S1569-1993(07)00059-8

doi: 10.1016/j.jcf.2007.04.004

Journal of Cystic Fibrosis
Volume 7, Issue 1 , Pages 54-59 , January 2008