CFTR MUTATIONS IN NORTHERN GREECE. HIGH FREQUENCY OF MUTATION 621+1 (G->T)
Kalogeridis A1,2, Kouvatsi A1, Tsanakas I2
*Corresponding Author: Dr. Anastasia Kouvatsi, Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, 54006 Thessaloniki, Greece; Tel: +30310- 998361; Fax: +30310-998374; E-mail: akouvats@bio.auth.gr
page: 11

REFERENCES

1. Welsh MJ, Tsui LC, Boat TF, Beaudet AL: Cystic Fibrosis. In: The Metabolic and Molecular Basis of Inherited Diseases, Scriver CR, Beaudet AL, Sly WS, Valle D, eds. McGraw-Hill, New York, 1995, p 3799-3876.

2. Riordan JR, Rommens JM, Kerem BS, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plausic N, Chou J-L, Drumm ML, Iannuzi MC, Collins FS, Tsui L-C: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245: 1066-1073.

3. http://www.genet.sickkids.on.ca/cftr (Cystic Fibrosis mutation data base).

4. Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Gimenez J, Reis A, Varo-Mateeva R, Macek MJ, Kalaydjieva L, Angelicheva D, Dancheva R, Romeo G, Russo MP, Garnerone S, Restagno G, Ferrari M, Magnani C, Claustres M, Desgeorges M, Schwartz M, Swartz M, Dallapiccola B, Novelli G, Ferec C, De Arce M, Nemeti M, Kere J, Anvert M, Dahl N, Kadasi L: Tracing the origin of major cystic fibrosis mutation (DF508) in European populations. Nat Genet 1994; 7: 169-175.

5. Tzetis M, Kanavakis E, Antoniadi T, Doudounakis S, Adam G, Kattamis C: Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations. Hum Genet 1997; 99: 121-125.

6. Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui L-C, Antonarakis SE, Kazazian HH Jr: A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature 1990; 346: 366-369.

7. Vidaud M, Fanen P, Martin J, Ghanem N, Nicolas S, Goossens M: Three mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradi­ent gel electrophoresis. Hum Genet 1990; 85: 446-449.

8. Gasparini P, Pignatti PF, Novelli G, Dallapiccola B, Nunes V, Casals T, Estivill X, Fernandez E, Balassopoulou A, Loukopoulos D, Lavinha J, Sinova L, Komel R: Mutation analysis in cystic fibrosis. N Eng J Med 1990; 323: 62-63.

9. Kerem B, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, Tsui L-C: Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 1990; 87: 8447-8451.

10. Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M: 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 1992; 13: 770-776.

11. Osborne L, Santis G, Schwarz M, Klinger K, Dork T, McIntosh I, Nunes V, Macek MJ, Reiss J: Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Hum Genet 1992; 89: 653-658.

12. Tzetis M, Kanavakis E, Antoniadi T, Traeger-Synodinos J, Doudounakis S, Adam G, Matsaniotis N, Kattamis C: Mutation analysis of 10 exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation. Hum Genet 1995; 96: 364-366.

13. Dean M, White MB, Amos J, Gerrard B, Stewart C, Khaw KT, Leppert M: Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 1990; 61: 863-870.

14. Estivill X, Scambler PJ, Wainwright BJ, Hawley MF, Frederick PA, Baiget M, Kere J, Williamson R, Farral M: Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics 1987; 1: 257-263.

15. Horn GT, Richards B, Merrill JJ, Klinger P: Characterization and rapid diagnostic analysis of closely linked to the cystic fibrosis locus. J Clin Chem 1990; 36: 1614-1619.

16. Claustres M, Laussel M, Desgeorges M, Giansily M, Culard JF, Razakatsara G, Demaille J: Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France. Hum Mol Genet 1993; 2: 1209-1213.

17. Rendine S, Calafell F, Cappelo N, Gagliardini R, Caramia R, Rigillo N, Silvetti M, Zanda M, Miano A, Battistini F, Marianelli L, Tacceti G, Diana MC, Romano L, Romano C, Giunta A, Padoan R, et al: Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution. Ann Hum Genet 1997; 61: 411-424.

18. Collee JM, de Vries HG, Scheffer H, Haley DJJ, ten Kate LP: Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of signifi­cant regional variation in a small country. Hum Genet 1998; 102: 587-590.

19. Balassopoulou A, Arvanitakis S, Loutradi A, Loukopoulos D: Spectrum of cystic fibrosis in the Greek population. Application in prenatal diagnosis. Proceeding of the 1st Balkan Meeting of Human Genetics, Thessa­loniki, Greece 1994; p 50.

20. Rozen R, Braekeleer MD, Daigneault J, Ferreira-Rajabi L, Gerdes M, Lamoureux L, Aubin G, Simard F, Fujiwara M, Kenneth M: 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; 42: 360-364.




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