Cystic Fibrosis and CFTR
Mutations in the CFTR gene may cause Cystic Fibrosis (CF). One in 25 people of European descent carries a mutated CFTR allele and 1 in 2000–3000 newborns is found to be affected by CF. CFTR mutation testing can be used as an aid in newborn screening, CF diagnosis, and reproductive decisions, allowing clinicians to determine if an abnormal diagnostic result is due to a mutation within the CFTR gene.
Other disorders caused by CFTR dysfunction include male infertility caused by CBAVD and acute recurrent or chronic pancreatitis.
Cystic Fibrosis Molecular Diagnostics
More than 1900 mutations and variants in the CFTR gene have been described. The vast majority of mutations have a population frequency below 0,1 % with high heterogeneity of mutation distribution between different ethnic groups. The Devyser CFTR Core kit has been designed to detect the most common mutations found across populations of European origin.
Devyser CFTR Core
The Devyser CFTR-Core kit is designed to genotype the normal and mutant alleles at 33 loci of the CFTR gene using purified human genomic DNA. Genotype coverage includes a panel of 36 mutations to support genetic diversity of multiethnic European populations. The assay also detects polythymidine variants (5T/7T/9T) within intron 9 (IVS8) of the CFTR gene. In case of a 5T allele, the TG repeat number upstream of the poly-T region can also be determined.
The Devyser CFTR Core kit is based on multiplex allele specific PCR amplification for detection of normal non-mutated (wild-type), and mutated alleles in the CFTR gene. Allele specific PCR amplification generates fluorescently labelled fragments that are analysed by capillary electrophoresis on a Genetic Analyzer instrument. Amplified fragments are identified based on size and fluorescent labels.