Preimplantation genetic testing using haplotype-based single nucleotide polymorphisms analysis


Citar

Texto integral

Acesso aberto Acesso aberto
Acesso é fechado Acesso está concedido
Acesso é fechado Acesso é pago ou somente para assinantes

Resumo

Aim. To develop and apply haplotype-based single nucleotide polymorphisms (SNP) analysis for preimplantation genetic testing for monogenic diseases (PGT-M) using chips developed by Affymetrix, Inc., USA. Materials and methods. Twenty-three families with monogenic pathology underwent testing with an integrated approach simultaneously using PGT-M (fragment analysis of STR markers, SNP haplotyping, Sanger sequencing, real-time PCR) and PGTfor aneuploidy (PGT-A) (NGS and aCGH). Results. Out of 93 embryos sent for testing, 55 were euploid. In three families, OGT-M was not performed due to the complete absence of euploid embryos after OGT-A. In the remaining 20 observations, 38 embryos (20 without mutations and 18 with heterozygous carriers) were transferred into the uterine cavity. Interpretation of SNP haplotyping results was more straightforward and reliable than the STR analysis. This technique is universal and does not require individual development for each case. The results of SNP haplotyping are described in detail for two cases, including PGT-M for achondroplasia (autosomal dominant inheritance) and galactosemia (recessive inheritance). Conclusion. The versatility and reliability of the developed approach significantly accelerate obtaining the results, facilitating their interpretation, and reducing the likelihood of possible errors. Also, OGT-M should be preceded by OGT-A for the prevention of chromosomal pathology.

Texto integral

Acesso é fechado

Sobre autores

A. Ekimov

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: a_ekimov@oparina4.ru
Clinical Geneticist at the Molecular Genetics Laboratory 4, Ac. Oparin str., Moscow, Russian Federation, 117997

N. Karetnikova

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: n_karetnikova@oparina4.ru
Clinical Geneticist at the Molecular Genetics Laboratory 4, Ac. Oparin str., Moscow, Russian Federation, 117997

E. Shubina

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: e_shubina@oparina4.ru
Head of Genomic Data Analysis Laboratory 4, Ac. Oparin str., Moscow, Russian Federation, 117997

A. Gol'tsov

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: andrey.goltsov@gmail.com
Researcher at the Molecular Genetics Laboratory 4, Ac. Oparin str., Moscow, Russian Federation, 117997

M. Kuznetsova

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: mkarja@mail.ru
Ph.D. (biol.sci.), Senior Researcher at the Molecular Genetics Laboratory 4, Ac. Oparin str., Moscow, Russian Federation, 117997

I. Mukosei

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: irina.mukosey@yandex.ru
Researcher at the Molecular Genetics Laboratory 4, Ac. Oparin str., Moscow, Russian Federation, 117997

O. Ritcher

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: o_ritcher@oparina4.ru
Clinical Laboratory Pathologist at the Molecular Genetics Laboratory 4, Ac. Oparin str., Moscow, Russian Federation, 117997

D. Trofimov

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: d_trofimov@oparina4.ru
Professor, Head of the Institute of Reproductive Genetics 4, Ac. Oparin str., Moscow, Russian Federation, 117997

Bibliografia

  1. Delhanty J.D.A., Harper J.C. Preimplantation genetic diagnosis. Baillieres Best Pract. Res. Clin. Obstet. Gynaecol. 2000; 14(4): 691-708. https://dx.doi. org/10.1053/beog.2000.0105.
  2. Zegers-Hochschild F., Adamson G.D., Dyer S., Racowsky C., de Mouzon J., Sokol R. et al. The international glossary on infertility and fertility care. Hum. Reprod. 2017; 108(3): 393-406. https://dx.doi.org/10.1016/j.fertnstert.2017.06.005.
  3. Gigarel N., Frydman N., Burlet P., Kerbrat V., Steffann J., Frydman R. et al. Single cell coamplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28. Hum. Genet. 2004; 114(3): 298-305. https://dx.doi.org/10.1007/s00439-003-1063-9.
  4. Traversa M.V., Carey L.,Leigh D. A molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers. Mol. Hum. Reprod. 2010; 16(5): 329-37. https://dx.doi.org/10.1093/molehr/ gaq013.
  5. Handyside A.H., Harton G.L., Mariani B., Thornhill A.R., Affara N., Shaw M.A., Griffin D.K. 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. https://dx.doi.org/10.1136/jmg.2009.069971.
  6. Masset H., Zamani Esteki M., Dimitriadou E., Dreesen J., Debrock S., Derhaag J. et al. Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing. Hum. Reprod. 2019; 34(8): 1608-19. https://dx.doi.org/10.1093/humrep/dez106.
  7. Zamani Esteki M., Dimitriadou E., Mateiu L., Melotte C., Van der Aa N., Kumar P. et al. Concurrent whole-genome haplotyping and copy-number profiling of single cells. Am. J. Hum. Genet. 2015; 96(6): 894-912. https://dx.doi. org/10.1016/j.ajhg.2015.04.011.

Arquivos suplementares

Arquivos suplementares
Ação
1. JATS XML
Baixar

Declaração de direitos autorais © Bionika Media, 2021

Este site utiliza cookies

Ao continuar usando nosso site, você concorda com o procedimento de cookies que mantêm o site funcionando normalmente.

Informação sobre cookies