Abstract
The recent isolation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene [3,4] and the discovery of the predominant mutation causing the disease (delta-F508) [1] have greatly improved the accuracy of diagnosis in families at risk and the general feasibility of CF carrier detection. Based on the analysis of 662 CF chromosomes from the German population, we recently determined the frequency of the delta-F508 mutation to be 74.3% [6]. Since three out of four carriers in the population can therefore be detected directly, direct prenatal diagnosis can be applied to about 50% of the couples with a one in four risk for a CF child. An example of such a diagnosis is shown in figure 1a.
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
Kerem BS, Rommens JM, Buchanan JA, et al (1989) Identification of the cystic fibrosis gene: Genetic analysis. Science 245; 1073–1080
Macek M. jr., Macek M, Stuhrmann M, et al. (1990) The direct early diagnosis of cystic fibrosis (CF) by the detection of the deltaF508 CFTR gene mutation in a prematurely delivered boy: a case report. Clin Genet (submitted)
Riordan JR, Rommens JM, Kerem BS, et al (1989) Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 245; 1066–1073
Rommens JM, Iannuzzi MC, Kerem BS, et al (1989) Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 245; 1059–1065
Rommens JM, Kerem BS, Greer W, et al. (1990) Rapid non-radioactive detection of the major cystic fibrosis mutation. Am J Hum Genet 46:395–396
Stuhrmann M, Dörk T, Krawczak M, et al. (1990) Genotype phenotype correlations in cystic fibrosis patients. In: Tsui LC et al. (ed) The identification of the CF (Cystic Fibrosis) gene: recent progress and new research strategies in relation to pancreatic sufficiency. Plenum press (in press)
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1991 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Stuhrmann, M., Spangenberg, A., Böhm, I., Reis, A., Schmidtke, J. (1991). Application of PCR for Prenatal Diagnosis of Cystic Fibrosis (CF). In: Rolfs, A., Schumacher, H.C., Marx, P. (eds) PCR Topics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-75924-6_18
Download citation
DOI: https://doi.org/10.1007/978-3-642-75924-6_18
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-52934-7
Online ISBN: 978-3-642-75924-6
eBook Packages: Springer Book Archive