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JMD 2005, Vol. 7, No. 3
Copyright © 2005 American Society for Investigative Pathology & Association for Molecular Pathology

Genotyping Microarray for the Detection of More Than 200 CFTR Mutations in Ethnically Diverse Populations

Iris Schrijver^*, Eneli Oitmaa, Andres Metspalu and Phyllis Gardner

From the Department of Pathology, * Stanford University School of Medicine, Stanford, California; Asper Biotech, Ltd., Tartu, Estonia; the Institute of Molecular and Cell Biology, University of Tartu/Estonian Biocentre, Tartu, Estonia; and the Department of Medicine, Stanford University School of Medicine, Stanford, California

Cystic fibrosis (CF), which is due to mutations in the cystic fibrosis transmembrane conductance regulator gene, is a common life-shortening disease. Although CF occurs with the highest incidence in Caucasians, it also occurs in other ethnicities with variable frequency. Recent national guidelines suggest that all couples contemplating pregnancy should be informed of molecular screening for CF carrier status for purposes of genetic counseling. Commercially available CF carrier screening panels offer a limited panel of mutations, however, making them insufficiently sensitive for certain groups within an ethnically diverse population. This discrepancy is even more pronounced when such carrier screening panels are used for diagnostic purposes. By means of arrayed primer extension technology, we have designed a genotyping microarray with 204 probe sites for CF transmembrane conductance regulator gene mutation detection. The arrayed primer extension array, based on a platform technology for disease detection with multiple applications, is a robust, cost-effective, and easily modifiable assay suitable for CF carrier screening and disease detection.

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