Homosistein metabolizmasında rol oynayabilecek gen değişimlerinin incelenmesi
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Date
2007
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Biyoteknoloji Enstitüsü
Abstract
In this study, CT replacement in the 677th nucleotide in MTHFR enzyme involved in homocysteine metabolism, 68 bp insertion in the 844th nucleotide in CBS enzyme, 6bp insertion/deletion in the region of 3?UTR in TYMS enzyme and 19 bp deletion in DHFR In this study, CT replacement in the 677th nucleotide in MTHFR enzyme involved in homocysteine metabolism, 68 bp insertion in the 844th nucleotide in CBS enzyme, 6bp insertion/deletion in the region of 3?UTR in TYMS enzyme and 19 bp deletion in DHFR enzyme were investigated. The effects of these mutations over homocysteine levels were also studied. In previous studies the main subjects were mutations in MTHF, CBS and TYMS enzymes. However, DHFR enzyme of Turkish society was studied first time in this work. Although the mutations have been related with illnesses in the previous works, 296 individuals with known homocysteine levels and individuals who?s any mutations not related with any illnesses were used in this study. Real-Time PCR method was used for a MTHFR 677 CT replacement. The CBS844ins68 and DHFR 19 bp deletion were studied using Polymerase Chain Reactions. TYMS 3?UTR 6bp insertion/deletion mutations were studied using Polymerase Chain Reaction based Restriction Fragment Polymorphism (PCR-RFLP). Obtained data was evaluated with non-parametric analyze methods. All enzymes were studied and correlation analyzes were tested between enzymes. As a result; it is discovered that TT genotype could be a risk factor for mutant genotype MTHFR 677 CT over homocysteine levels. There was no statistical meaning in other analyzes.
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Keywords
Homosistein (tHcy), Metilentetrahidrofolat redüktaz (MTHFR), Dehidrofolat redüktaz (DHFR), Sistatyon B sentaz (CBS), Timidilat Sentaz (TYMS), Thymidylate Synthase (TYMS), Cystatione B syntase (CBS), Dehydrofolate reductase (DHFR), Methylenetetrahydrofolate reductase (MTHFR), Homocysteine (tHcy)