2016

Akdeniz Anemili ve Orak Hücreli Anemili Hastaların Preimplantasyon Genetik Testinde Karyomapping Tekniği

Amaç Bu çalışmada, karyomapping tekniğini önceden bilinen beta globin (HBB) numunesi test sonuçları üzerinden doğrulamak ve gelecekte HBB mutasyonlarını saptamada kullanılacak tek bir PGT yöntemi olarak ortaya koymak amaçlanmıştır.Gereç ve Yöntemlerİlk olarak karyomapping protokolü konvansiyonel PGT teknikleri ile saptanmış HBB mutasyonlu toplam 30 örnek üzerinden doğrulandı. Daha sonra 31 embriyo örneğinde HBB mutasyon durumunu tanımlamak için tek teknik olarak karyomapping kullanıldı.BulgularKaryomapping ve konvansiyonel PGT sonuçları arasında yüksek bir uyum (%97) bulundu. HBB mutasyonları için direkt karyomapping ile beş PGT döngüsü yapıldı ve iki hastaya dört etkilenmemiş ve kromozomal normal embriyo transfer edilerek iki hamilelik elde edildi.Tartışma ve SonuçKaryomapping tekniği klinik uygulamada HBB mutasyonlarını güvenilir bir şekilde saptayabilir ve anöploit embriyoların transferini önleyebilir.

Anahtar Kelimeler:

beta globin geni, karyomapping, PGT

Karyomapping in Preimplantation Genetic Testing of Patients with Beta-thalassemia and Sickle Cell Anemia

Aim Preimplantation genetic testing (PGT) has been introduced to prevent the transmission of inherited diseases to the offspring. Karyomapping is a universal linkage-based test that has been recently introduced to PGT in the clinical practice. It utilizes single nucleotide polymorphism genotyping of individual parents along with a known disease reference from a family member for identification of the parental origin of chromosomes and the disease status of the embryos being tested. The objectives of this study were to first validate Karyomapping technique on previously known beta globin (HBB) test sample results and then establish as a sole PGT method for HBB mutation identification in the future. Materials and Methods First, Karyomapping protocol was validated on a total of 30 samples with HBB mutation identified by conventional PGT techniques. Then, Karyomapping was used on 31 samples as the sole technique to identify HBB mutation status. ResultsWe found a high concordance (97%) between the Karyomapping and conventional PGT results. For five PGT cycles for HBB mutations and direct Karyomapping PGT four unaffected and chromosomal normal embryos were transferred resulting two pregnancies. Conclusion: Karyomapping technique can reliably detect HBB mutation in clinical cases without a prior test development in the clinical practice and prevents the transfer of aneuploidy embryos.

Keywords:

Karyomapping, PGT, beta globin gene,

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