Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

ABSTRACT:

Background

In this study the authors present an update to the CFTR mutation profile in Hungary, utilizing data from a selected cohort of 45 cystic fibrosis (CF) patients from different regions of the country.

Methods

Depending on the preceding analysis, four different mutation detection methods were used. A commercial assay targeting the most common CF-causing mutations was performed as the first test followed by an allele specific PCR for CFTRdele2,3(21kb), Sanger sequencing and MLPA analysis of the coding region of the CFTR gene.

Results

In our recent study 27 different mutations were detected, including 2 novel ones (c.1037_1038insA and c.1394C>T). Besides F508del (c.1521_1523delCTT), the following mutations were found at a frequency of ≥ 4.0%: W1282X

SUBMITTER: Ivady G 

PROVIDER: S-EPMC4922332 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature