Umut Kouml;kbaÅ? Author

Short Communication Open Access

Determination of F508del Mutation that Cause Cystic Fibrozis by Genosensor Analysis

Author(s):

Umut KökbaÅŸ

Identifying genetic alterations throughout an entire gene is necessary for the confirmation of clinical diagnosis, for the establishment of genotypephenotype correlation and prenatal diagnosis in many complex inherited diseases. The gene of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR), including characteristics above mentioned, consists of 27 exons. Some of the mutations, such as F508del in exon 10, are associated with severe phenotypes. For this reasons, a powerful mutation-screening tool is needed to scan the exons and intronic splice regions. High Resolution Melting (HRM) analysis provide a rapid and accurate alternative for CFTR analysis. Genosensor is a rapid, closed-tube method that is at least as accurate as other scanning techniques that re... view more»

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