Cystic fibrosis mutation cluster

摘要

Four mutations have been found clustered in exon 11 of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. These mutations occur within a set of amino acids highly conserved among ATP-dependent transport proteins. Humans can be tested to determine whether they carry one of these mutations using a number of methods and/or probes taught herein. Specifically the mutations include: Asn549, Asp551, Stop553, and Thr559.