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Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population
Joint Authors
Essawi, Tamer
Claes, Kathleen
Essawi, O.
De Leeneer, K.
Steyaert, W.
De Pauw, K.
Coucke, P. J.
De Paepe, Anne
Farraj, Mohammad A.
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-01-26
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
An extensive molecular analysis of the CF transmembrane regulator (CFTR) gene was performed to establish the CFTR mutation spectrum and frequencies in the Palestinian population, which can be considered as an understudied population.
We used a targeted Next Generation Sequencing approach to sequence the entire coding region and the adjacent sequences of the CFTR gene combined with MLPA analysis of 60 unrelated CF patients.
Eighteen different CF-causing mutations, including one previously undescribed mutation p.(Gly1265Arg), were identified.
The overall detection rate is up to 67%, and when we consider only CF patients with sweat chloride concentrations >70 mEq/L, we even have a pickup rate of 92%.
Whereas p.(Phe508del) is the most frequent allele (35% of the positive cases), 3 other mutations c.2988+1Kbdel8.6Kb, c.1393-1G>A, and p.(Gly85Glu) showed frequencies higher than 5% and a total of 9 mutations account for 84% of the mutations.
This limited spectrum of CF mutations is in agreement with the homozygous ethnic origin of the Palestinian population.
The relative large portion of patients without a mutation is most likely due to clinical misdiagnosis.
Our results will be important in the development of an adequate molecular diagnostic test for CF in Palestine.
American Psychological Association (APA)
Essawi, O.& Farraj, Mohammad A.& De Leeneer, K.& Steyaert, W.& De Pauw, K.& De Paepe, Anne…[et al.]. 2015. Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population. Disease Markers،Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1060948
Modern Language Association (MLA)
Essawi, O.…[et al.]. Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population. Disease Markers No. 2015 (2015), pp.1-6.
https://search.emarefa.net/detail/BIM-1060948
American Medical Association (AMA)
Essawi, O.& Farraj, Mohammad A.& De Leeneer, K.& Steyaert, W.& De Pauw, K.& De Paepe, Anne…[et al.]. Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population. Disease Markers. 2015. Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1060948
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1060948