Investigation of Ivs14+1G>A Polymorphism of Dpyd Gene in a Group of Bosnian Patients Treated with 5-Fluorouracil and Capecitabine
Adverse drug reactions still pose an important clinical problem. Dihydropyrimidine dehydrogenase (DPD) is an enzyme that regulates 5-FU quantities available for anabolic processes and hence affects its pharmacokinetics, toxicity and efficacy. There are several studies describing a hereditary (phar...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina
2010-05-01
|
| Series: | Biomolecules & Biomedicine |
| Subjects: | |
| Online Access: | https://www.bjbms.org/ojs/index.php/bjbms/article/view/2712 |
| _version_ | 1797260904343011328 |
|---|---|
| author | Timur Cerić Nermina Obralić Lejla Kapur-Pojskić Draženka Macić Semir Bešlija Anes Pašić Šejla Cerić |
| author_facet | Timur Cerić Nermina Obralić Lejla Kapur-Pojskić Draženka Macić Semir Bešlija Anes Pašić Šejla Cerić |
| author_sort | Timur Cerić |
| collection | DOAJ |
| description | Adverse drug reactions still pose an important clinical problem. Dihydropyrimidine dehydrogenase (DPD) is an enzyme that regulates 5-FU quantities available for anabolic processes and hence affects its pharmacokinetics, toxicity and efficacy.
There are several studies describing a hereditary (pharmacogenetic) disorder in which individuals with absent or significantly reduced DPD activity may even develop a life-threatening toxicity following exposure to 5-FU. The most common mutation is known as the DPYD*2A or as the splice-site mutation (IVS14 + 1G A) leading to creation of a dysfunctional protein. An objective behind the study was to ascertain existence of the IVS14+ 1G A mutation among the population of Bosnia and Herzegovina. Our research has undeniably attested to existence of one heterozygote for the DPYD gene mutation, i.e. one heterozygote for IVS14 + 1 G > A, DPYD*2A mutation.
|
| first_indexed | 2024-04-24T23:32:44Z |
| format | Article |
| id | doaj.art-ae966a5b86884298af0e877097a7c9de |
| institution | Directory Open Access Journal |
| issn | 2831-0896 2831-090X |
| language | English |
| last_indexed | 2024-04-24T23:32:44Z |
| publishDate | 2010-05-01 |
| publisher | Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina |
| record_format | Article |
| series | Biomolecules & Biomedicine |
| spelling | doaj.art-ae966a5b86884298af0e877097a7c9de2024-03-15T14:34:36ZengAssociation of Basic Medical Sciences of Federation of Bosnia and HerzegovinaBiomolecules & Biomedicine2831-08962831-090X2010-05-0110210.17305/bjbms.2010.2712432Investigation of Ivs14+1G>A Polymorphism of Dpyd Gene in a Group of Bosnian Patients Treated with 5-Fluorouracil and CapecitabineTimur Cerić0Nermina Obralić1Lejla Kapur-Pojskić2Draženka Macić3Semir Bešlija4Anes Pašić5Šejla Cerić6Oncology Clinic, University of Sarajevo Clinics CentreOncology Clinic, University of Sarajevo Clinics CentreINGEB - Institute for Genetic Engineering and BiotechnologyINGEB - Institute for Genetic Engineering and BiotechnologyOncology Clinic, University of Sarajevo Clinics CentreOncology Clinic, University of Sarajevo Clinics CentreNuclear Medicine Clinic, University of Sarajevo Clinics CentreAdverse drug reactions still pose an important clinical problem. Dihydropyrimidine dehydrogenase (DPD) is an enzyme that regulates 5-FU quantities available for anabolic processes and hence affects its pharmacokinetics, toxicity and efficacy. There are several studies describing a hereditary (pharmacogenetic) disorder in which individuals with absent or significantly reduced DPD activity may even develop a life-threatening toxicity following exposure to 5-FU. The most common mutation is known as the DPYD*2A or as the splice-site mutation (IVS14 + 1G A) leading to creation of a dysfunctional protein. An objective behind the study was to ascertain existence of the IVS14+ 1G A mutation among the population of Bosnia and Herzegovina. Our research has undeniably attested to existence of one heterozygote for the DPYD gene mutation, i.e. one heterozygote for IVS14 + 1 G > A, DPYD*2A mutation. https://www.bjbms.org/ojs/index.php/bjbms/article/view/2712pharmacogeneticsDihydropyrimidine dehydrogenaseDPYD2A mutation |
| spellingShingle | Timur Cerić Nermina Obralić Lejla Kapur-Pojskić Draženka Macić Semir Bešlija Anes Pašić Šejla Cerić Investigation of Ivs14+1G>A Polymorphism of Dpyd Gene in a Group of Bosnian Patients Treated with 5-Fluorouracil and Capecitabine Biomolecules & Biomedicine pharmacogenetics Dihydropyrimidine dehydrogenase DPYD2A mutation |
| title | Investigation of Ivs14+1G>A Polymorphism of Dpyd Gene in a Group of Bosnian Patients Treated with 5-Fluorouracil and Capecitabine |
| title_full | Investigation of Ivs14+1G>A Polymorphism of Dpyd Gene in a Group of Bosnian Patients Treated with 5-Fluorouracil and Capecitabine |
| title_fullStr | Investigation of Ivs14+1G>A Polymorphism of Dpyd Gene in a Group of Bosnian Patients Treated with 5-Fluorouracil and Capecitabine |
| title_full_unstemmed | Investigation of Ivs14+1G>A Polymorphism of Dpyd Gene in a Group of Bosnian Patients Treated with 5-Fluorouracil and Capecitabine |
| title_short | Investigation of Ivs14+1G>A Polymorphism of Dpyd Gene in a Group of Bosnian Patients Treated with 5-Fluorouracil and Capecitabine |
| title_sort | investigation of ivs14 1g a polymorphism of dpyd gene in a group of bosnian patients treated with 5 fluorouracil and capecitabine |
| topic | pharmacogenetics Dihydropyrimidine dehydrogenase DPYD2A mutation |
| url | https://www.bjbms.org/ojs/index.php/bjbms/article/view/2712 |
| work_keys_str_mv | AT timurceric investigationofivs141gapolymorphismofdpydgeneinagroupofbosnianpatientstreatedwith5fluorouracilandcapecitabine AT nerminaobralic investigationofivs141gapolymorphismofdpydgeneinagroupofbosnianpatientstreatedwith5fluorouracilandcapecitabine AT lejlakapurpojskic investigationofivs141gapolymorphismofdpydgeneinagroupofbosnianpatientstreatedwith5fluorouracilandcapecitabine AT drazenkamacic investigationofivs141gapolymorphismofdpydgeneinagroupofbosnianpatientstreatedwith5fluorouracilandcapecitabine AT semirbeslija investigationofivs141gapolymorphismofdpydgeneinagroupofbosnianpatientstreatedwith5fluorouracilandcapecitabine AT anespasic investigationofivs141gapolymorphismofdpydgeneinagroupofbosnianpatientstreatedwith5fluorouracilandcapecitabine AT sejlaceric investigationofivs141gapolymorphismofdpydgeneinagroupofbosnianpatientstreatedwith5fluorouracilandcapecitabine |