PCR-based analysis of cystic fibrosis mutations specific for Saudi patients

Saudi Medical Journal

Volumn 19, Issue 2, 1998, Pages 148-152

  El Harith, El Harith A ^a,c   Stuhrmann, Manfred ^a   Dork, Thilo ^a   Eskandarani, Hamza A ^b   Schmidtke, Jorg ^a  

^a Institute of Human Genetics   (Germany)

^b IMAM ABDULRAHMAN BIN FAISAL UNIVERSITY   (Saudi Arabia)

^c HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Cystic fibrosis; Molecular analysis; PCR; Saudi Arabia

Indexed keywords

EID: 0012173322     PISSN: 03795284     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Rommens J.M, Iannuzi M.C, Kerem B, et al. Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 1989; 245:1059-1065.
2. Riordan J.R, Rommens J.M, Kerem B.S, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245:1066-1073.
3. Kerem B.S, Rommens J.M, Buchanan J.A. et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245:1073-1080.
4. Welsh, M.J, Tsui, L.C, Boat T.F, et al. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Diseases, 7th edn. New York: McGraw Hill 1995:3799-3876.
5. 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.
6. Ballabio A, Gibbs R.A, Caskey C.T. PCR test for cystic fibrosis. Nature 1990; 343: 220.
7. Newton C.R, Schwarz M, Summers C, et al. Detection of ΔF508 deletion by amplification refractory mutation system. Lancet 1990; 1:1217-1219.
8. Wagner M, Schlösser M, Reiss J. Direct gene diagnosis of cystic fibrosis by allele-specific polymerase chain reaction. Mol Biol Med 1990;7:359-364.
9. Rommens J.M, Kerem B.S, Greer W, Chang P, Tsui L.C, Ray P. Rapid non-radioactivc detection of the major cystic fibrosis mutation. Am J Hum Genet 1990;46:395-396.
10. Stuhrmann M, Spangenberg A, Böhm I, Reis A, Schmidtke J. Application of PCR for prenatal diagnosis of cystic fibrosis (CF). In: Rolfs, A.: Schumacher, H.C, and Marx, P., eds. PCR topics - Usage of polymerase chain reaction in genetic and infectious diseases. Berlin: Springer-Verlag 1991; 89- 91.
11. Haliassos A, Chomel J.C, Teeson L, et al. Modification of enzymatically amplified DNA for the detection of point mutations. Nucl Acids Res 1989;17:3606.
12. Ng I.S.L. Pace R, Richard M.V, et al Methods for analysis of multiple cystic fibrosis mutations. Hum Genet 1991; 87:613- 617.
13. Gasparini P, Bonizzato A, Dognini M, Pignatti P.F. Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations. Mol Cell Probes 1992; 6:1-7.
14. Ferrie R.M, Schwarz, M.J, Robertson N.H, et al. Development, multiplexing and amplification of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet 1992 51:251-262.
15. Serre, J.L. Taillandier, A. Mornet, E., et al. Nearly 80% of cystic fibrosis heterozygotes and 64% of couples at risk may be detected through a unique screening of four mutations by ASO specific reverse dot blot. Genomics 1991;11:1149- 1151.
16. Eggerding F.A, Lovannisci D.M, Brinson E, Grossman P, Winn-Deen E.S. Fluorescence-based oligonucleotide ligation assay of cystic fibrosis transmembrane conductance regulator gene mutations. Hum Mut 1995; 5:153-165.
17. El-Harith E.A, Dörk T, Stuhrmann M, Abu-Srair H, Al- Shahri A, Keller KM, Lentze MJ, Schmidtke J. Novel and characteristic CFTR mutations in Saudi Arab children with severe presentation of cystic fibrosis. J Med Genet 1997; 34:996-999.
18. Zielenski J, Rozmahel R, Bozon D, et al. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991;10:214-228.
19. Nazer H, Rahbeeni Z. Cystic fibrosis and the liver - A Saudi experience. Annals Trop Paediatr 1994;14:189-194.
20. Mathew P.M. Hamdan J.A. Nazer H. Cystic fibrosis presenting with recurrent vomiting and metabolic alkalosis. Eur J Pediatr 1991;150:264-266.
21. Kambouris M, Meyer B.F, Banjar H, et al. Identification of two novel CFTR exonic deletions (425del42 & 1549delG) in cystic fibrosis (CF) patients by Mutation Detection Enhancement (MDE) heteroduplex analyses. Possible founder effect associated with the 1540A→G polymorphism. Am J Hum Genet 1996; 59 suppl (A 397, 2319.
22. El-Hazmi M.A.F. Warsy A.S. Genetic disorders among Arab populations. Saudi Med J 1996;17:109-123.