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

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,

SUBMITTER: Schrijver I 

PROVIDER: S-EPMC1867536 | biostudies-literature | 2005 Aug

REPOSITORIES: biostudies-literature