Araştırma Makalesi
BibTex RIS Kaynak Göster

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

Yıl 2019, , 59 - 66, 30.01.2019
https://doi.org/10.21673/anadoluklin.438117

Öz

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.

Kaynakça

  • Reference 1. Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 199;344(6268):768-70.
  • Reference 2. Handyside AH, Lesko JG, Tarin JJ 1992 Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med. 1992;327(13):905-9.
  • Reference 3. Sermon K. Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy. Expert Rev Mol Diagn. 2017;17(1):71-82.
  • Reference 4. Verlinsky Y, Rechitsky S, Schoolcraft W et al. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA. 2001;285(24):3130-3.
  • Reference 5. Hellani A, Coskun S, Benkhalifa M 2004 Multiple displacement amplification on single cell and possible PGD applications. Mol Hum Reprod. 2004;10(11):847-52.
  • Reference 6. Coskun S, Alsmadi O. Whole genome amplification from a single cell: a new era for preimplantation genetic diagnosis. Prenat Diagn. 2007;27(4):297-302.
  • Reference 7. Findlay I, Ray P, Quirke P, Rutherford A, Lilford R. Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum Reprod. 1995;10(6):1609-18.
  • Reference 8. Findlay I, Matthews PL, Mulcahy BK, Mitchelson K. Using MF-PCR to diagnose multiple defects from single cells: implications for PGD. Mol Cell Endocrinol. 2001;183(Suppl 1):S5-12.
  • Reference 9. Hellani A, Coskun S, Tbakhi A, Al-Hassan S. Clinical application of multiple displacement amplification in preimplantation genetic diagnosis. Reprod Biomed Online. 2005;10(3):376-80.
  • Reference 10. Handyside AH, Robinson MD, Simpson RJ, Omar MB, Shaw MA, Grudzinskas JG, Rutherford A. Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease. Mol Hum Reprod. 2004;10(10):767-72.
  • Reference 11. Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara N, Shaw MA, Griffin DK. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. 2010;47(10):651-8.
  • Reference 12. Natesan SA, Bladon AJ, Coskun S, Qubbaj W, Prates R, Munne S, Coonen E, Dreesen JC, Stevens SJ, Paulussen AD, Stock-Myer SE, Wilton LJ, Jaroudi S, Wells D, Brown AP, Handyside AH. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med. 2014;16(11):838-45.
  • Reference 13. Thornhill AR, Handyside AH, Ottolini C, Natesan SA, Taylor J, Sage K, Harton G, Cliffe K, Affara N, Konstantinidis M, Wells D, Griffin DK. Karyomapping-a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome. J Assist Reprod Genet. 2015;32(3):347-56.
  • Reference 14. Gould RL, Griffin DK. Karyomapping and how is it improving preimplantation genetics? Expert Rev Mol Diagn. 2017;17(6):611-21.
  • Reference 15. Konstantinidis M, Prates R, Goodall NN, Fischer J, Tecson V, Lemma T, Chu B, Jordan A, Armenti E, Wells D, Munné S. Live births following Karyomapping of human blastocysts: experience from clinical application of the method. Reprod Biomed Online. 2015;31(3):394-403.
  • Reference 16. Ben-Nagi J, Wells D, Doye K, Loutradi K, Exeter H, Drew E, Alfarawati S, Naja R, Serhal P. Karyomapping: a single centre's experience from application of methodology to ongoing pregnancy and live-birth rates. Reprod Biomed Online. 2017;35(3):264-71.
  • Reference 17. Ottolenghi S, Lanyon WG, Williamson R, Weatherall DJ, Clegg JB, Pitcher CS. Human globin gene analysis for a patient with beta-o/delta beta-thalassemia. Proc Natl Acad Sci U S A. 1975;72(6):2294-9.
  • Reference 18. Saiki, R. K., Chang, C.-A., Levenson, C. H., Warren, T. C., Boehm, C. D., Kazazian, H. H., Jr., Erlich, H. A. Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. N Engl J Med. 1988;319(9):537-41.
  • Reference 19. Weatherall D, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ. 2001;79(8):704-12.
  • Reference 20. Teo CG, Wong HB. The innate resistance of thalassemia to malaria: a review of the evidence and possible mechanisms. Singapore Med J. 1985;26:504-509.
  • Reference 21. Goossens V, Traeger-Synodinos J, Coonen E, De Rycke M, Moutou C, Pehlivan T, Derks-Smeets IA, Harton G. ESHRE PGD Consortium data collection XI: cycles from January to December 2008 with pregnancy follow-up to October 2009. Hum Reprod. 2012;27(7):1887-911.
  • Reference 22. Coskun S, Hollanders J, Al-Hassan S, Al-Sufyan H, Al-Mayman H, Jaroudi K. Day 5 versus day 3 embryo transfer: a controlled randomized trial. Hum Reprod. 2000;15(9):1947-52.
  • Reference 22. Qubbaj W, Al-Swaid A, Al-Hassan S, Awartani K, Deek H, Coskun S. First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism. Reprod Biomed Online. 2011;22(1):72-9.
  • Reference 23. Natesan SA, Handyside AH, Thornhill AR, Ottolini CS, Sage K, Summers MC, Konstantinidis M, Wells D, Griffin DK. Live birth after PGD with confirmation by a comprehensive approach (karyomapping) for simultaneous detection of monogenic and chromosomal disorders. Reprod Biomed Online. 2014;29(5):600-5.
  • Reference 24. Simon AL, Kiehl M, Fischer E, Proctor JG, Bush MR, Givens C, Rabinowitz M, Demko ZP. Pregnancy outcomes from more than 1,800 in vitro fertilization cycles with the use of 24-chromosome single-nucleotide polymorphism-based preimplantation genetic testing for aneuploidy. Fertil Steril. 2018. pii: S0015-0282(18)30281-4.
  • Reference 25. Giménez C, Sarasa J, Arjona C, Vilamajó E, Martínez-Pasarell O, Wheeler K, Valls G, Garcia-Guixé E, Wells D. Karyomapping allows preimplantation genetic diagnosis of a de-novo deletion undetectable using conventional PGD technology. Reprod Biomed Online. 2015;31(6):770-5.

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

Yıl 2019, , 59 - 66, 30.01.2019
https://doi.org/10.21673/anadoluklin.438117

Öz

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.
                

Kaynakça

  • Reference 1. Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 199;344(6268):768-70.
  • Reference 2. Handyside AH, Lesko JG, Tarin JJ 1992 Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med. 1992;327(13):905-9.
  • Reference 3. Sermon K. Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy. Expert Rev Mol Diagn. 2017;17(1):71-82.
  • Reference 4. Verlinsky Y, Rechitsky S, Schoolcraft W et al. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA. 2001;285(24):3130-3.
  • Reference 5. Hellani A, Coskun S, Benkhalifa M 2004 Multiple displacement amplification on single cell and possible PGD applications. Mol Hum Reprod. 2004;10(11):847-52.
  • Reference 6. Coskun S, Alsmadi O. Whole genome amplification from a single cell: a new era for preimplantation genetic diagnosis. Prenat Diagn. 2007;27(4):297-302.
  • Reference 7. Findlay I, Ray P, Quirke P, Rutherford A, Lilford R. Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum Reprod. 1995;10(6):1609-18.
  • Reference 8. Findlay I, Matthews PL, Mulcahy BK, Mitchelson K. Using MF-PCR to diagnose multiple defects from single cells: implications for PGD. Mol Cell Endocrinol. 2001;183(Suppl 1):S5-12.
  • Reference 9. Hellani A, Coskun S, Tbakhi A, Al-Hassan S. Clinical application of multiple displacement amplification in preimplantation genetic diagnosis. Reprod Biomed Online. 2005;10(3):376-80.
  • Reference 10. Handyside AH, Robinson MD, Simpson RJ, Omar MB, Shaw MA, Grudzinskas JG, Rutherford A. Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease. Mol Hum Reprod. 2004;10(10):767-72.
  • Reference 11. Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara N, Shaw MA, Griffin DK. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. 2010;47(10):651-8.
  • Reference 12. Natesan SA, Bladon AJ, Coskun S, Qubbaj W, Prates R, Munne S, Coonen E, Dreesen JC, Stevens SJ, Paulussen AD, Stock-Myer SE, Wilton LJ, Jaroudi S, Wells D, Brown AP, Handyside AH. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med. 2014;16(11):838-45.
  • Reference 13. Thornhill AR, Handyside AH, Ottolini C, Natesan SA, Taylor J, Sage K, Harton G, Cliffe K, Affara N, Konstantinidis M, Wells D, Griffin DK. Karyomapping-a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome. J Assist Reprod Genet. 2015;32(3):347-56.
  • Reference 14. Gould RL, Griffin DK. Karyomapping and how is it improving preimplantation genetics? Expert Rev Mol Diagn. 2017;17(6):611-21.
  • Reference 15. Konstantinidis M, Prates R, Goodall NN, Fischer J, Tecson V, Lemma T, Chu B, Jordan A, Armenti E, Wells D, Munné S. Live births following Karyomapping of human blastocysts: experience from clinical application of the method. Reprod Biomed Online. 2015;31(3):394-403.
  • Reference 16. Ben-Nagi J, Wells D, Doye K, Loutradi K, Exeter H, Drew E, Alfarawati S, Naja R, Serhal P. Karyomapping: a single centre's experience from application of methodology to ongoing pregnancy and live-birth rates. Reprod Biomed Online. 2017;35(3):264-71.
  • Reference 17. Ottolenghi S, Lanyon WG, Williamson R, Weatherall DJ, Clegg JB, Pitcher CS. Human globin gene analysis for a patient with beta-o/delta beta-thalassemia. Proc Natl Acad Sci U S A. 1975;72(6):2294-9.
  • Reference 18. Saiki, R. K., Chang, C.-A., Levenson, C. H., Warren, T. C., Boehm, C. D., Kazazian, H. H., Jr., Erlich, H. A. Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. N Engl J Med. 1988;319(9):537-41.
  • Reference 19. Weatherall D, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ. 2001;79(8):704-12.
  • Reference 20. Teo CG, Wong HB. The innate resistance of thalassemia to malaria: a review of the evidence and possible mechanisms. Singapore Med J. 1985;26:504-509.
  • Reference 21. Goossens V, Traeger-Synodinos J, Coonen E, De Rycke M, Moutou C, Pehlivan T, Derks-Smeets IA, Harton G. ESHRE PGD Consortium data collection XI: cycles from January to December 2008 with pregnancy follow-up to October 2009. Hum Reprod. 2012;27(7):1887-911.
  • Reference 22. Coskun S, Hollanders J, Al-Hassan S, Al-Sufyan H, Al-Mayman H, Jaroudi K. Day 5 versus day 3 embryo transfer: a controlled randomized trial. Hum Reprod. 2000;15(9):1947-52.
  • Reference 22. Qubbaj W, Al-Swaid A, Al-Hassan S, Awartani K, Deek H, Coskun S. First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism. Reprod Biomed Online. 2011;22(1):72-9.
  • Reference 23. Natesan SA, Handyside AH, Thornhill AR, Ottolini CS, Sage K, Summers MC, Konstantinidis M, Wells D, Griffin DK. Live birth after PGD with confirmation by a comprehensive approach (karyomapping) for simultaneous detection of monogenic and chromosomal disorders. Reprod Biomed Online. 2014;29(5):600-5.
  • Reference 24. Simon AL, Kiehl M, Fischer E, Proctor JG, Bush MR, Givens C, Rabinowitz M, Demko ZP. Pregnancy outcomes from more than 1,800 in vitro fertilization cycles with the use of 24-chromosome single-nucleotide polymorphism-based preimplantation genetic testing for aneuploidy. Fertil Steril. 2018. pii: S0015-0282(18)30281-4.
  • Reference 25. Giménez C, Sarasa J, Arjona C, Vilamajó E, Martínez-Pasarell O, Wheeler K, Valls G, Garcia-Guixé E, Wells D. Karyomapping allows preimplantation genetic diagnosis of a de-novo deletion undetectable using conventional PGD technology. Reprod Biomed Online. 2015;31(6):770-5.
Toplam 26 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Kurumları Yönetimi
Bölüm ORJİNAL MAKALE
Yazarlar

Serdar Coskun 0000-0002-7278-0902

Yayımlanma Tarihi 30 Ocak 2019
Kabul Tarihi 9 Eylül 2018
Yayımlandığı Sayı Yıl 2019

Kaynak Göster

Vancouver Coskun S. Karyomapping in Preimplantation Genetic Testing of Patients with Beta-thalassemia and Sickle Cell Anemia. Anadolu Klin. 2019;24(1):59-66.

13151 This Journal licensed under a CC BY-NC (Creative Commons Attribution-NonCommercial 4.0) International License.