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Current Topics in Biochemical Research   Volumes    Volume 21 
Identification of G551D-CFTR allele via AS-PCR of human buccal cells
Matthew R. Cederman, Maggie F. Leff, Megan R. Monforton, Ally M. Bauer, Douglas B. Luckie
Pages: 15 - 23
Number of pages: 9
Current Topics in Biochemical Research
Volume 21 

Copyright © 2020 Research Trends. All rights reserved

The G551D mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) is the third most common allele found in cystic fibrosis patients. This mutation is a single base pair substitution at the 551st codon of the CFTR gene that leads to a substitution of glycine (GGT) by aspartic acid (GAT). DNA detection of such a mutation can be achieved through polymerase chain reaction (PCR) amplification utilizing allele-specific primers. In testing a more reliable approach to a diagnostic assay, an intentional mismatch strategy as described by Hidenobu Yaku’s group was applied to the oligonucleotide design in an attempt to decrease the number of false positives encountered and a third nested primer was added to further confirm the amplified region.
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