CFTR Mutation Detection Kit
Cystic fibrosis is an autosomal recessive multisystem disease with significant morbidity and mortality in all parts of the world. Cystic fibrosis (CF) results in a steady decline of health until death in the second or third decade of life. It is characterised by severe chronic lung infections, digestive problems, inflammations in the upper respiratory tract, male infertility and elevated sweat chloride concentration.
The disease mainly occurs due to mutation in the cystic fibrosis trans-membrane conductance regulator (CFTR) gene. More than 1000 mutations causing CF, have been identified in the CFTR gene, of which AF508 is the most severe, predominant mutation occurring in 50-80% of the cases. The other major mutations comprises of the G551D Gly-Asp, R553X Arg-Stop G542X Gly-Stop and the G-T splicemutation 621 + 1 O T . These mutations are classified to class I-V based on their effect on CFTR protein. Class I-III CFTR mutations are more severe and lead to complete loss of function.
Diagnosis of Cystic Fibrosis
Mylab Discovery solutions CFTR Mutation Detection kit offers ARMS PCR technology for detection of seven major mutations of CFTR gene leading to cystic fibrosis. Kit includes DNA extraction reagents from blood sample and PCR amplification reagents for seven major CFTR mutations in the region of exon 4,10 and 11 on CFTR gene.