Mustafa AY

12316

Türk Venöz Trombozlu Hastalarda Yüksek FVIII Düzeyi ile F8 Geninin 3' UTR Varyasyonları Arasındaki İlişki

Amaç: Venöz Tromboz (VT), genetik ve çevresel faktörlerin neden olduğu önemli bir tıbbi hastalıktır. Bu çalışmada, yüksek FVIII plazma seviyelerine sahip 30 hastada ve normal FVIII plazma seviyelerine sahip 30 sağlıklı bireyde Faktör 8 geninin 3' transle edilmeyen bölgesindeki (UTR) dizi varyantları araştırıldı. Materyal ve Metot: Statik Zamanlama Analiz Kiti kullanılarak kan örneklerinde FVIII proteininin plazma seviyeleri ölçüldü. F8 geninin 3' UTR bölgesi, 6 primer çifti kullanılarak PCR ile çoğaltıldı. Dizi varyantlarının belirlenmesi için tek zincirli konformasyon analizi (SSCA) ve DNA dizi analizi yapıldı. Bulgular: FVIII protein düzeyi hastalarda 200 ± 64 IU/dl iken kontrollerde 120 ± 32 IU/dl olarak tespit edildi. F8 geninin 3' UTR'sinde bazı bireylerin farklı SSCA paternleri ve F8 geninin rs1050705 nükleotid değişikliği gözlendi. Bu nedenle, F8 geninin 3' UTR'sindeki dizi varyantları ile yüksek FVIII seviyeleri arasında anlamlı bir ilişki bulamadık. Sonuç: VT, F8 geninin 3' UTR'sindeki dizi varyantı ile ilişkili görünmemektedir, ancak küçük ölçekli çalışmalar, venöz tromboz gibi karmaşık bozuklukları aydınlatmak için genlerin 3' UTR bölgelerine yönelik çalışmalara dikkat çekecektir.
Anahtar Kelimeler:

Faktör VIII, 3' UTR, Türk Populasyonu, Venöz, Tromboz

Relationship Between Elevated FVIII Level and 3' UTR Variations of F8 Gene in Turkish Patients with Venous Thrombosis

Objective: Venous Thrombosis (VT) is an important medical disorder caused by genetic and environmental factors. This study investigated the sequence variants in the 3' untranslated region (UTR) of Factor 8 gene in 30 patients with high FVIII plasma levels and 30 healthy individuals with normal FVIII plasma levels. Materials and Methods: The plasma levels of FVIII protein were measured in blood samples using the Static Timing Analyze Kit. The 3' UTR region of F8 gene was amplified by PCR using 6 primers pairs. Single strand conformation analysis (SSCA) and DNA sequencing analysis were carried out for determination of the sequence variants. Results: While the FVIII protein level was 200 ± 64 IU / dl in patients, it was detected as 120 ± 32 IU / dl in controls. In the 3 'UTR of the F8 gene were observed different SSCA patterns of some individuals and nucleotide change rs1050705 of the F8 gene. Therefore, we did not find a significant relationship between sequence variants in 3' UTR of F8 gene and elevated FVIII levels. Conclusions: VT does not seem to be associated with the sequence variant in 3' UTR of the F8 gene but small-scale studies will draw attention to studies on the 3' UTR regions of the genes to elucidate complex disorders such as venous thrombosis.
Keywords:

Factor VIII, 3' UTR, Turkish Population, Venous, Thrombosis,

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Artuklu International Journal of Health Sciences-Cover
  • Başlangıç: 2021
  • Yayıncı: Mardin Artuklu Üniversitesi
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