Abstract
Prenatal diagnosis of cystic fibrosis (CF) [1] is now performed by polymerase chain reaction (PCR) [8] to directly visualize the predominant mutation deltaF508 of the cystic fibrosis transmembrane regulator (CFTR) [5] gene and to analyze CF-linked marker polymorphisms: MetH/MspI [3], XV2c/TaqI [7], CS7/HhaI [9], KM19/PstI [2], Mp6-d9/MspI [4] and J3.11/MspI [3]. Diagnostic results can be obtained the same day [9] after processing the chorionic (placental) biopsy and the cultivated or uncultivated amniotic fluid cells (AFC).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Beaudet A L, Feldman G L, Fernbach S D, Buffone G J, O’Brien W E (1989) Linkage disequilibrium, cystic fibrosis, and genetic counselling. Am J Hum Genet 44:319–326
Feldman G L, Williamson R, Beaudet A L, O’Brien W E (1988) Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM 19 polymorphism. Lancet ii:102
Horn G T, Richards B, Wright G, Landes G M, Klinger K W (1989) Analysis and detection of genetic polymorphisms near the cystic fibrosis and Huntington’s disease loci. Cytogenet Cell Genet 51: 1015
Huth A, Estivill X, Grade K, Billwitz H, Speer A, Rosenthal A, Williamson R, Ramsay M, Coutelle C (1989) Polymerase chain reaction for detection of the MP6-d9/Msp I RFLP, a marker closely linked to the CF mutation. Nucleic Acids Research 17:7118
Kerem B-S, Rommens J M, Buchanan J A, Markiewicz D, Cox T, Chakravarti A, Buchwald M, Tsui L-C (1989) Identification of the cytic fibrosis gene: genetic analysis. Science 245:1073–1080
Krawczak M, Reiss J, Schmidtke J, Rössler U (1989) Polymerase chain reaction: replication errors and reliability of gene diagnosis. Nucleic Acids Research 17:2197–2201
Rosenbloom C L, Kerem B S, Rommens J M, Tsui L C, Wainwright B J, Williamson R, O’Brien W E, Beaudet A L (1989) DNA amplification for detection of the XV2c polymorphism linked to CF. Nucleic Acids Research 17:7117
Saiki R K, Gelfand D H, Stoffel S, Scharf S J, Higuchi R, Horn G T, Mullis K B, Erlich H A (1988) Primer directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487–491
Williams C, Williamson R, Coutelle C, Loeffler F, Smith J, Ivinson A (1988) Same-day, first trimester diagnosis for cystic fibrosis by gene amplification. Lancet ii:102–103
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1991 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Macek, M., Macek, M., Chudoba, D., Stuhrmann, M., Reis, A., Schmidtke, J. (1991). The Use of Non-Viable Cultured Amniotic Fluid Cells for Prenatal Diagnosis of Cystic Fibrosis by Polymerase Chain Reaction. In: Rolfs, A., Schumacher, H.C., Marx, P. (eds) PCR Topics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-75924-6_19
Download citation
DOI: https://doi.org/10.1007/978-3-642-75924-6_19
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-52934-7
Online ISBN: 978-3-642-75924-6
eBook Packages: Springer Book Archive