The importance of the M470V polymorphism

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dc.contributor.authorCelik, Tanju
dc.contributor.authorGunesacar, Ramazan
dc.contributor.authorBalci, Ali
dc.contributor.authorUnal, Sule
dc.contributor.authorAldic, Guliz
dc.contributor.authorEskici, Harika
dc.contributor.authorAtilgan, Nigar
dc.date.accessioned2024-09-18T20:08:15Z
dc.date.available2024-09-18T20:08:15Z
dc.date.issued2017
dc.departmentHatay Mustafa Kemal Ãœniversitesien_US
dc.description.abstractObjective: Several hundreds of cystic fibrosis transmembrane conductance regulator (CFTR) variants have been reported, however it is not known whether which one of them was causing the disease of cystic fibrosis (CF) or not. Information about CFTR genes carrying the M470 or the V470 allele are interesting. In this study, we aimed to investigate the clinical importance of M470V mutation in Antiochia region. Methods: A case-control study consisted of 145 children from whom CF gene study was requested because of recurrent respiratory tract infections, growth failure, chronic diarrhea and constipation. The parameters of patients with positive mutation were compared with negative ones as for gender, age, height, weight, annual number of upper and lower respiratory tract infections, parental consanguinity, sibling death, clinical and laboratory parametres. Results: In 63 of 145 patients (43.4%), heterozygous mutation, in 16 (11%) of them homozygous mutation was detected. All of the patients with mutation group had M470V mutation. The sweat test results of all patients were within normal limits. Mean age of those patients were 41.21 +/- 39.8 (min: 6 max: 192) months and 30 (38%) of them were girls. Thirty percent of the patients with mutation (n=17.7) had a familial history of cystic fibrosis, 2 a history of sibling death. In the mutation group, only annual number of infections, skin dryness, loss of weight, level of IgG and IgM were significantly higher (p<0.05). Conclusion: It was concluded that in M470V positive cases, the disease may cause clinical symptoms without affecting sweat test results, with less gastrointestinal but more respiratory symptoms, causing a more prominent loss of weight.en_US
dc.identifier.doi10.5222/buchd.2017.215
dc.identifier.endpage220en_US
dc.identifier.issn2146-2372
dc.identifier.issn1309-9566
dc.identifier.issue3en_US
dc.identifier.startpage215en_US
dc.identifier.urihttps://doi.org/10.5222/buchd.2017.215
dc.identifier.urihttps://hdl.handle.net/20.500.12483/8738
dc.identifier.volume7en_US
dc.identifier.wosWOS:000418201400008en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherDr Behcet Uz Cocuk Hastaliklari Ve Cerrahisien_US
dc.relation.ispartofIzmir Dr Behcet Uz Cocuk Hastanesi Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectChilden_US
dc.subjectcystic fibrosisen_US
dc.subjectM470Ven_US
dc.titleThe importance of the M470V polymorphismen_US
dc.typeArticleen_US

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