Molecular basis of cystic fibrosis in the Republic of Macedonia

Clinical Genetics

Volumn 54, Issue 3, 1998, Pages 203-209

  Petreska, L ^a   Koceva, S ^a   Plaseska, D ^a   Chernick, M ^b   Gordova Muratovska, A ^c   Fustic, S ^c   Nestorov, R ^d   Efremov, G D ^a  

^a MACEDONIAN ACADEMY OF SCIENCES AND ARTS   (Macedonia)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c Department of Pediatrics ^*  (Macedonia)

^d SS CYRIL AND METHODIUS UNIVERSITY OF SKOPJE   (Macedonia)

Author keywords

CFTR; Cystic fibrosis; Haplotypes; Mutations

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CYSTIC FIBROSIS; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA POLYMORPHISM; DOT HYBRIDIZATION; ETHNIC GROUP; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC MARKER; HAPLOTYPE; HUMAN; MACEDONIA (REPUBLIC); MAJOR CLINICAL STUDY; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031717196     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb04285.x     Document Type: Article

References (40)

1. Rommens J, Iannuzzi JLV, Kerem BS, Drumm ML, Melmer G, Dean M, Buchwald M, Riordan JR, Tsui LS, Collins FS. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989: 245: 1059-1065.
2. Riordan JR, Rommens JM, Kerem BS, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, Drumm ML, Iannuzzi MC, Collins FS, Tsui LC. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989: 245: 1066-1073.
3. Kerem BS, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science 1989: 245: 1073-1080.
4. CFGAC. Cystic Fibrosis Genetic Analysis Consortium Newsletters 1997.
5. CFGAC. The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutat 1994: 4: 167-177.
6. CFGAC. The Cystic Fibrosis Genetic Analysis Consortium. Worldwide survey of the ΔF508 mutation-report from the Cystic Fibrosis Genetic Analysis Consortium. Am J Hum Genet 1990: 47: 354-359.
7. Tsui L-C. The spectrum of cystic fibrosis mutations. Trends Genet 1992: 8: 392-398.
8. EWGCFG. European Working Group on CF Genetics. Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. Hum Genet 1990: 85: 436-445.
9. Zergollern L, Stavljenic-Rukavina A, Barisic I, Sertic J. F508 deletion in Croatian cystic fibrosis patients. Acta Med Croat 1992: 46: 181-184.
10. Dabovic BB, Radojkovic D, Minic P, Savic J, Savic A. Frequency of the ΔF508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients. Hum Genet 1992: 88: 699-700.
11. Kalaydjieva L, Antov J, Bronzova J, Vladimirova V, Horst J. Molecular data on cystic fibrosis in Bulgaria. Hum Genet 1990: 85: 412-413.
12. Balassopoulou A, Loukopoulos D, Kollia P, Devoto M, Adam G, Arvanitakis S, Hadjisevastou H. Cystic fibrosis in Greece: typing with DNA probes and identification of the common molecular defect. Hum Genet 1990: 85: 393-394.
13. Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, Camcioglu Y, Cokugras H, Akcakaya N, Apak M, Tsui L-C, Kirdar B. Analysis of the CFTR gene in Turkish cystic fibrosis patients identification of the three novel mutations (3172delAC, P1013L and M10281). Human Genet 1998: 102: 224-230.
14. Simova L, Williams C, Efremov GD, Gordova-Muratovska A, Fustic S, Watson EK, Williamson R. F508 frequency and associated haplotypes near the cystic fibrosis locus in the Yugoslav population. Hum Genet 1990: 85: 432-433.
15. Census 1995. In: The Statistical Year-book of Republic of Macedonia for 1995. Department of Statistics of Republic of Macedonia, Skopje.
16. Saiki RK, Gefland DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA. Primer directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988: 239: 487-491.
17. Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan J, Rommens J, Tsui L-C. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991: 10: 214-228.
18. Petreska L, Koceva S, Gordova-Muratovska A, Efremov GD. A new polymorphism in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene. Hum Genet 1995: 95: 465-466.
19. Petreska L, Koceva S, Efremov GD. A donor splice site mutation (1811 + 1G → C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin. Hum Mutat 1996: 7: 375.
20. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci USA 1977: 74: 5463-5467.
21. Dean M, White MB, Amos J, Gerrard B, Stewart C, Khaw K-T, Leppert M. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 1990: 61: 863-870.
22. Kerem B, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahaf J, Kennedy D, Riordan JR, Collins FS, Rommens JR, Tsui L-C. Identification of mutations in regions corresponding to the 2 putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 1990: 87: 8447-8451.
23. Osborne L, Knight RA, Santis G, Hodson M. A mutation in the second nucleotide binding fold of the cystic fibrosis gene. Am J Hum Genet 1991: 48: 608-612.
24. Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR. Severe deficiency of cystic fibrosistransmembrane conductance regulator mRNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J Clin Invest 1991: 88: 1880-1885.
25. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989: 5: 874-879.
26. Ganguly A, Rock MJ, Prockop DJ. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993: 90: 10325-10329.
27. Audrezet MP, Mercier B, Guillermit H, Quere I, Verlingue C, Rault G, Ferec C. Identification of 12 novel mutations in the CFTR gene. Hum Mol Genet 1993: 2: 51-54.
28. Rosenbloom CL, Kerem BS, Rommens JM, Tsui LS, Wainwright B, Williamson R, O'Brien WE, Beaudet AL. DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis. Nucl Acids Res 1989: 17: 7117.
29. Feldman GL, Williamson R, Beaudet AL, O'Brien WE. Pre-natal diagnosis of cystic fibrosis by DNA amplification for detection of KM19 polymorphism. Lancet 1988: II: 102.
30. Zielenski J, Bozon D, Kerem B, Markiewicz D, Rommens JM, Tsui L-C. Identification of mutations in exon 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991: 10: 229-235.
31. Petreska L, Koceva S, Gordova-Muratovska A, Nestorov R, Efremov GD. Identification of two new mutations (711 + 3A → G and V1397E) in CF chromosomes of Albanian and Macedonian origin. Hum Mol Genet 1994: 3: 999-1000.
32. Cutting GR, Curristan SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C. Analysis of four diverse population groups indicates that a subset of CF mutations occur in common among Caucasians. Am J Hum Genet 1992: 50: 1185-1194.
33. Ravnik-Glavac M, Glavac D, Komel R, Dean M. Single-strand conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations. Hum Mutat 1993: 2: 286-292.
34. Claustres M, Maguelone L, Desgeorges M, Giansily M, Culard JF, Razakatsara G, Gerrard B, 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.
35. 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 CFTR coding regions and splice junctions. Genomics 1992: 13: 770-776.
36. Chillón M, Palacio A, Nunes V, Estivill X. A rare DNA variant in exon 15 of the CFTR gene. Hum Genet 1992: 90: 474.
37. Dörk T, Mekus F, Schmidt K, Bosshammer J, Fislage R, Heuer T, Dziadek V, Neumann T, Kälin N, Wulbrand U, Wulf B, von der Hardt H, Maass G, Tümmler B. Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Hum Genet 1994: 94: 533-542.
38. Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Gimenez J, Reis A, Varon-Mateeva R, Macek Jr M, Kalaydjieva L, Angelicheva D, Dancheva R, Romeo G, Russo MP, Garneone S, Restagno G, Ferrari M, Magnani C, Claustres M, Desgeorges M, Schwartz M, Schwarz M, Dallapiccola B, Novelli G, Ferec C, de Arce M, Nemeti M, Kere J, Anvret M, Dehl N, Kadase L. The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nat Genet 1994: 7: 169-175.
39. Kristidis P, Bozon D, Corey M, Markiewicz D, Romens J, Tsui L-C, Durie P. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 1992: 50: 1178-1184.
40. Cystic Fibrosis Genotype - Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. New Engl J Med 1993: 329: 1308-13013