Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/5941
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dc.contributor.authorAkın, D. F.-
dc.contributor.authorÖner D. A.-
dc.contributor.authorSipahi K.-
dc.contributor.authorMumcuoğlu M.-
dc.contributor.authorKurekci E.-
dc.contributor.authorEzer, U.-
dc.contributor.authorAkar, Mehmet Nejat-
dc.date.accessioned2021-09-11T15:20:55Z-
dc.date.available2021-09-11T15:20:55Z-
dc.date.issued2017en_US
dc.identifier.issn1110-8630-
dc.identifier.urihttps://doi.org/10.1016/j.ejmhg.2017.03.003-
dc.identifier.urihttps://hdl.handle.net/20.500.11851/5941-
dc.description.abstractBackground and aim Folate metabolic pathway plays a significant role in leukemogenesis because of its necessity for nucleotide synthesis and DNA methylation. Folate deficiency causes DNA damage. Thus polymorphisms of folate-related genes may affect the susceptibility to childhood Acute Lymphoblastic Leukemia (ALL). MTHFR (Methylenetetrahydrofolate Reductase), DHFR (Dihydrofolate reductase), CBS (Cystathionine ?-synthase) and TYMS (Thymidylate Synthase) have an important role in folate pathway because their activated variants modulate synthesis of DNA and levels of folate. In this study, we aimed to investigate whether polymorphisms in genes related to folate metabolic pathway influence the risk to childhood ALL. Subject and methods The patient groups who were diagnosed with childhood ALL at Losante Pediatric Hematology-Oncology Hospital and healthy control groups were included in the study. MTHFR 677 C-T, MTHFR 1298 A-C, CBS 844ins68, DHFR 19-bp and TYMS 1494del6 polymorphisms were screened. Genotyping of these polymorphisms was performed by Restriction Fragment Length Polymorphism (RFLP) analysis and Real Time Polymerase chain Reaction (Real Time-PCR). Results In total, we have screened 5 polymorphisms in the studied genes. The results were compared between childhood ALL patients and healthy groups. Genotype frequencies of MTHFR 677 C-T, MTHFR 1298 A-C, CBS 844ins68 and DHFR 19-bp del were similar for childhood ALL patients and healthy groups. However, statistical results showed that TYMS 1494del6 may be associated with ALL pathogenesis (p < 0.001). Conclusion We showed that TYMS polymorphism (rs2853542) may be associated with ALL pathogenesis. In addition, our results demonstrated that MTHFR, DHFR and CBS do not affect development of leukemia. Our study displays also importance as it is the first screening results to identify association with the studied polymorphisms in Turkish patients with childhood ALL and determination of the frequency in Turkish population. © 2017 Ain Shams Universityen_US
dc.language.isoenen_US
dc.publisherEgyptian Society of Human Geneticsen_US
dc.relation.ispartofEgyptian Journal of Medical Human Geneticsen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAcute Lymphoblastic Leukemiasen_US
dc.subjectMolecular biologyen_US
dc.subjectMolecular hematologyen_US
dc.subjectPediatric Leukemiaen_US
dc.titleScreening of Polymorphisms in the Folate Pathway in Turkish Pediatric Acute Lymphoblastic Leukemia Patientsen_US
dc.typeArticleen_US
dc.departmentFaculties, School of Medicine, Department of Internal Medical Sciencesen_US
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümütr_TR
dc.identifier.volume18en_US
dc.identifier.issue4en_US
dc.identifier.startpage349en_US
dc.identifier.endpage353en_US
dc.identifier.scopus2-s2.0-85017109329en_US
dc.institutionauthorAkar, Mehmet Nejat-
dc.identifier.doi10.1016/j.ejmhg.2017.03.003-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.scopusqualityQ4-
item.openairetypeArticle-
item.languageiso639-1en-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
crisitem.author.dept03.14. Department of Internal Medicine-
Appears in Collections:Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
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