Amplification of exon 11 of cystic fibrosis transmembrane conductance regulator gene (CFTR) using polymerase chain reaction (PCR)

Cystic Fibrosis, a very common autosomal recessive disorder, is caused by defects of CFTR protein. This protein is coded by CFTR, which contains 27 exons. A primer pair was designed to specifically amplify exon 11 of the gene. The primers were tested on one subject, and the amplicons were sequenced. One SNP, at location 470, was detected producing a non-synonymous mutation from guanine to adenine. AS­-PCR and primer pair designed can be used in the future to screen larger group of sample to test for the frequency of the SNP or other mutations in exon 11 of CFTR in Malaysians.