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

Year 2019, , 59 - 66, 30.01.2019

Serdar Coskun

https://doi.org/10.21673/anadoluklin.438117

Abstract

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 Yöntemler

İlk 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.

Bulgular

Karyomapping 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 Sonuç

Karyomapping tekniği klinik uygulamada HBB mutasyonlarını güvenilir bir şekilde saptayabilir ve anöploit embriyoların transferini önleyebilir.

Keywords

beta globin geni, karyomapping, PGT

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

Abstract

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. 

Results

We 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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