Format

Send to:

Choose Destination
See comment in PubMed Commons below
J Mol Diagn. 2005 Aug;7(3):375-87.

Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

Author information

  • 1Department of Pathology, L235, Stanford University Medical Center, 300 Pasteur Drive, Stanford, CA 94305, USA. iris.schrijver@medcenter.stanford.edu

Abstract

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.

PMID:
16049310
[PubMed - indexed for MEDLINE]
PMCID:
PMC1867536
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Write to the Help Desk