Analysis of the CFTR gene in Turkish cystic fibrosis patients: Identification of three novel mutations (3172delAC, P1013L and M1028I)

Human Genetics

Volumn 102, Issue 2, 1998, Pages 224-230

  Onay, T ^a   Topaloglu, O ^a   Zielenski, J ^b   Gokgoz, N ^a   Kayserili, H ^c   Camcioglu, Y ^d   Cokugras, H ^d   Akcakaya, N ^d   Apak, M ^c   Tsui, L C ^b   Kirdar, B ^a  

^a BOGAZICI UNIVERSITY   (Turkey)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c ISTANBUL UNIVERSITY   (Turkey)

^d ISTANBUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

HETERODUPLEX; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; CYSTIC FIBROSIS; DENATURING GRADIENT GEL ELECTROPHORESIS; GENE FREQUENCY; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; POPULATION GENETICS; PRIORITY JOURNAL; TURKEY (REPUBLIC);

EID: 0031949654     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050683     Document Type: Article

References (46)

1. Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR (1992) Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 51:951-956
2. Angelicheva D, Calafell F, Savov A, Jordanova A, Kufardjieva A, Galeva I, Nedkova V, Ivanova T, Yankova P, Konstantinova D, Genev E, Kalaydjieva L (1997) Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study. Hum Genet 99:513-520
3. Augarten A, Hacham S, Kerem E, Kerem BS, Szeinberg A, Laufer J, Doolman R, Altshuler R, Blau H, Bentur L, Gazit E, Katznelson D, Yahav Y (1995) The significance of sweat Cl/Na ratio in patients with borderline sweat test. Pediatr Pulmonol 20:369-371
4. Bozon D, Zielenski J, Rininsland F, Tsui L-C (1994) Identification of four new mutations in the CFTR gene: I148T, L1077P, Y1092X, 2183AA→G. Hum Mutat 3:330-332
5. Cassals T, Nunes V, Palacio A, Gimenez J, Gaona A, Ibanez N, Morral N, Estivill X (1993) Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area. Hum Genet 91:66-70
6. Chevalier-Porst F, Bonardot AM, Gilly R, Chazalette JP, Mathieu M, Bozon D (1994) Mutation analysis in 600 French cystic fibrosis patients. J Med Genet 31:541-544
7. Chillon M, Nunes V, Estivill X (1991) SSCP-polymorphism in intron 12 of the CFTR gene recognized by Bell. Nucleic Acids Res 19:6343
8. Chillon M, Cassais T, Gimenez J, Ramos MD, Palacio A, Morral N, Estivill X, Nunes V (1994) Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum Genet 93:447-451
9. Cutting GR, Kasch LM, Rosenstein BJ, Tsui L-C, Kazazian HH Jr, Antonarakis SE (1990) Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med 323:1685-1689
10. Cystic Fibrosis Genetic Analysis Consortium (1994) Population variations of common cystic fibrosis mutations. Hum Mutat 4:167-177
11. Dean M, White MB, Amos J, Gerrard B, Stewart C, Khaw K-T, Leppert M (1990) Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 61:863-870
12. Dork T, Wulbrand U, Tummler B (1993) Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds. Genomics 15:688-691
13. Estivill X, Chillon M, Casals T, Bosch A, Morral N, Nunes V, Gasparini P, Seia A, Pignatti PF, Novelli G, Dallapiccola B, Fernandez E, Benitez J, Williamson R (1989) Delta-F508 gene deletion in cystic fibrosis in Southern Europe. Lancet II:1404-1405
14. Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M (1992) Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 13:770-776
15. Ferec C, Audrezet MP, Mercier B, Guillermit H, Mouiller P, Quere I, Verlingue C (1992) Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1:188-191
16. Ferrie RM, Schwarz MJ, Robertson NH, Vaudin S, Super M, Malone G, Little S (1992) Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet 51:251-262
17. Gasparini P, Marigo C, Bisceglia G, Nicolis E, Zelante L, Bombieri C, Borgo G, Pignatti PF, Cabrini G (1994) Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes. Hum Mutat 2:389-394
18. Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M (1994) Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 21:434-436
19. Gyllensten UB, Erlich HA (1988) Generation of ssDNA by the PCR and its application to direct sequencing of the HLADQA locus. Proc Natl Acad Sci USA 885:7652-7656
20. Highsmith EW, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorovoy JD, Quittell L, Friedman KJ, Silverman LM, Boucher RC, Knowles MR (1993) A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 331:974-980
21. Hundrieser J, Bremer S, Peinemann F, Stuhrmann M, Hoffknecht N, Wulf B, Smidtke J, Reiss J, Maab G, Tummler B (1990) Frequency of AF508 deletion in the CFTR gene in Turkish cystic fibrosis patients. Hum Genet 85:409-410
22. Ivaschenko TE, White MB, Dean M, Baranov BS (1991) A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death. Genomics 10:298-299
23. Ivaschenko TE, Baranov VS, Dean M (1993) Two new mutations detected by SSCP analysis in CF from Russia. Hum Genet 91:63-65
24. Jones CT, McIntosh I, Keston M, Ferguson A, Brock DJH (1992) Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation. Hum Mol Genet 1:11-17
25. Kerem BS, Rommens JM, Buchanan JA (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073-1080
26. Kerem B, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, Tsui L-C (1990) Identification of mutations in regions corresponding to the 2 putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 87:8447-8451
27. Kobayashi K, Knowles MR, Boucher RC, O'Brien WE, Beaudet AL (1990) Benign missense variations in the cystic fibrosis gene. Am J Hum Genet 47:611-615
28. Lemna WK, Feldman GL, Kerem BS, Fernbach SD, Zevkovich EP, O'Brien WE, Riordan JR, Collins FS, Tsui L-C, Beaudet AL (1990) Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med 322:291-296
29. Lerer I, Sagi M, Cutting GR, Abeliovich D (1991) Cystic fibrosis mutation G542X in Jewish patients. Am J Hum Genet 44:A397
30. Mercier B, Lissens W, Audrezet MP, Bonduelle M, Liebaers I, Ferec C (1993) Detection of more than 94% CF mutations in a sample of Belgian population and identification of 4 novel mutations. Hum Mutat 2:16-20
31. Messaoud T, Verlingue C, Denamur E, Pascaud O, Quere I, Fattoum S, Elion J, Ferec C (1996) Distribution of CFTR mutations in CF patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet 4:20-24
32. Novelli G, Gasparini P, Savonia A, Pignatti PF, Sanguido F, Dallapiccola B (1990) Polymorphic DNA haplotypes and AF508 deletion in 212 Italian CF families. Hum Genet 85:420-421
33. Nunes V, Gasparini P, Novelli G, Gaona A, Bonizzato A, Sangiuolo F, Balassopoulou A, Gimenez FJ, Dognini M, Ravnik-Glavac M, Cikuli M, Mokinini V, Komel R, Dallapiccola B, Pignatti PF, Loukopoulos D, Casals T, Estivill X (1991) Analysis of 14 cystic fibrosis mutations in five south European populations. Hum Genet 87:737-738
34. Osborne L, Santis G, Schwarz M, Klinger K, Dork T, McIntosh I, Schwartz M, Nunes V, Macek M Jr, Reiss J (1992) Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Hum Genet 89:653-658
35. Picci L, Anglani F, Scarpa M, Zacchello F (1992) Screening for cystic fibrosis gene mutations by multiplex DNA amplification. Hum Genet 88:552-556
36. Riordan JR, Rommens JM, Kerem BS, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plausic N, Chou J-L, Drumm ML, Iannuzzi MC, Collins FS, Tsui L-C (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245:1066-1073
37. Rommens JM, Kerem BS, Greer W, Chaning P, Tsui L-C, Ray P (1990) Rapid nonradioactive detection of the major CF mutation. Am J Hum Genet 46:395-396
38. Schwartz M, Johansen HK, Kock C, Brandt NJ (1990) Frequency of the ΔF508 mutation on cystic fibrosis chromosomes in Denmark. Hum Genet 85:427-428
39. Sheppard DN, Travis SM, Ishihara H, Welsh MJ (1996) Contribution of proline residues in the membrane-spanning domains of CFTR to chloride channel function. J Biol Chem 271:14 995-15 001
40. Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, Kerem BS (1992) Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet 50:222-228
41. Tucker SJ, Tannahill D, Higgins CF (1992) Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulatory gene. Hum Mol Genet 1:77-82
42. Vidaud M, Fanen P, Martin J, Ghanem N, Nicolas S, Goossens M (1990) Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. Hum Genet 85:446-449
43. Watson EK, Mayall ES, Simova L, Thompson EM, Warner JO, Willamson R, Willams C (1990) The incidence of ΔF508 CF mutation and associated haplotypes in a sample of English CF families. Hum Genet 85:435-436
44. Yilmaz E, Erdem H, Ozguc M, Coskun T, Ozcelik U, Gocmen A, Ozalp I (1995) Study of 12 mutations in Turkish CF patients. Hum Hered 45:175-177
45. Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui L-C, Morgan K (1993) Identification of the M1101K mutation in the CFTR gene and complete detection of CF mutations in the Hutterite population. Am J Hum Genet 52:609-615
46. Zielenski J, Tsui L-C (1994) Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 29:777-807