Spontan Abortus Embriyolarından Ekstrakte Edilen Fetal Dokuların Trombofilik Durumu
Amaç: Ebeveynlerdeki Faktör V (FV) Leiden, Faktör II (FII) G20210A ve Metilen Tetrahidrofolat redüktaz (MTHFR) C677T gen mutasyonları ve fetal tutunma ile ilgili bilgiler literatürde sıklıkla karşılaşılmasına rağmen, trombofilinin fetal yönü üzerine yapılan çalışmalar oldukça sınırlıdır. Bu üç sıklıkla rastlanılan gen mutasyonunu spontan abort embriyolarında netleştirmek için fetal dokuları ekstrakte edebilmek maksadıyla doğru bir algoritma takip edildi ve mutasyon taraması gerçekleştirildi. Yöntem: Toplam 70 spontan abortus materyali çalışmaya dâhil edildi ve hepsinin karyotip analizi yapıldı. Sitogenetik olarak anormal olanlar çalışmadan çıkartıldı. Fetal dokuları ekstrakte edebilmek için Y kromozomu üzerindeki SRY gen bölgesi amplifikasyonu ve genotiplendirme işlemleri ayrı ayrı yapıldı. Spontan abort embriyolarının ekstrakte edilen fetal dokuları elektronik mikroarray kullanılarak trombofilik gen mutasyonları açısından tarandı. Bulgular: Kromozom anomalisi ve maternal hücre kontaminasyonu tespit edilenler çalışma grubundan çıkartıldıktan sonra 10 fetal dokuda FV Leiden, FII G20210A ve MTHFR C677T gen mutasyonlarının taraması gerçekleştirildi, iki tanesinin FII G20210A ve FV Leiden heterozigot mutasyon taşıdığı ve altı tanesinin de MTHFR C677T heterozigot mutasyon taşıdığı tespit edildi. Sonuç: Sınırlı abort materyalinde yapılan bu çalışmada ilgili üç trombofilik gen mutasyonunun analizinden önce fetal dokuların ayırt edilmesi elde edilen sonuçları değerli kılmaktadır.
Thrombophilic Status of Extracted Fetal Tissues of Spontaneously Aborted Embroys
Objective:The reports about Factor V (FV) Leiden, Factor II (FII) G20210A andMethylenetetrahydrofolate reductase (MTHFR) C677T gene mutations ofparents and fetal viability are frequently encountered in the literature,despite the fetal side of thrombophilia is scant. To clarify the three commonthrombophilic gene mutations of the spontaneously aborted embryos, anaccurate algorithm was followed to extract the fetal tissues and then themutations were searched.Material and Methods:70 spontaneous abortion materials were included tothe study and all were karyotyped. Cytogenetically abnormals were excludedfrom the study. To extract the fetal tissues, amplifications of sexdetermination region of chromosome-Y (SRY) gene and genotypings wereperformed, respectively. Extracted fetal tissues of spontaneous abortedembroys and parents were screened for the thrombophilic gene mutationsvia electronic microarray.Results:After excluding chromosomally abnormal and maternallycontaminated ones totally ten fetal tissues were screened for the FIIG20210A, FV Leiden and MTHFR C677T gene mutations, and two carry F IIG20210A and F Leiden heterozygote mutations, and six carry heterozygoteforms of MTHFR C677T.Conclusion:The present study performed on the limited number of abortionmaterials, has a value for distinguishing the fetal tissues before analyzing thethree common mutation of thrombophilic genes which make the results arevery substantial.
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