The establishment and application of preimplantation genetic haplotyping in embryo diagnosis for reciprocal and Robertsonian translocation carriers
| Autor: | Haiyan Sun, Jing Fu, Xiaoxi Sun, Yijuan Sun, Jing Zhou, Shuo Zhang, Daru Lu, Yueping Zhang, Caixia Lei, Junping Wu |
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| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine lcsh:Internal medicine Preimplantation genetic haplotyping lcsh:QH426-470 DNA Copy Number Variations Robertsonian translocation Chromosomal translocation Biology Preimplantation genetic diagnosis medicine.disease_cause Polymorphism Single Nucleotide Translocation Genetic Young Adult 03 medical and health sciences 0302 clinical medicine Pregnancy Genetics Homologous chromosome medicine Humans Copy-number variation lcsh:RC31-1245 Preimplantation Diagnosis Genetics (clinical) Oligonucleotide Array Sequence Analysis 030219 obstetrics & reproductive medicine Chromosome Karyotype Amniotic Fluid Single nucleotide polymorphism lcsh:Genetics 030104 developmental biology Haplotypes Breakpoint Reciprocal translocation embryonic structures Female Research Article |
| Zdroj: | BMC Medical Genomics BMC Medical Genomics, Vol 10, Iss 1, Pp 1-9 (2017) |
| ISSN: | 1755-8794 |
| Popis: | Background Preimplantation genetic diagnosis (PGD) is now widely used to select embryos free of chromosomal copy number variations (CNV) from chromosome balanced translocation carriers. However, it remains a difficulty to distinguish in embryos between balanced and structurally normal chromosomes efficiently. Methods For this purpose, genome wide preimplantation genetic haplotyping (PGH) analysis was utilized based on single nucleotide polymorphism (SNP) microarray. SNPs that are heterozygous in the carrier and, homozygous in the carrier’s partner and carrier’s family member are defined as informative SNPs. The haplotypes including the breakpoint regions, the whole chromosomes involved in the translocation and the corresponding homologous chromosomes are established with these informative SNPs in the couple, reference and embryos. In order to perform this analysis, a reference either a translocation carrier’s family member or one unbalanced embryo is required. The positions of translocation breakpoints are identified by molecular karyotypes of unbalanced embryos. The recombination of breakpoint regions in embryos could be identified. Results Eleven translocation families were enrolled. 68 blastocysts were analyzed, in which 42 were unbalanced or aneuploid and the other 26 were balanced or normal chromosomes. Thirteen embryos were transferred back to patients. Prenatal cytogenetic analysis of amniotic fluid cells was performed. The results predicted by PGH and karyotypes were totally consistent. Conclusions With the successful clinical application, we demonstrate that PGH was a simple, efficient, and popularized method to distinguish between balanced and structurally normal chromosome embryos. Electronic supplementary material The online version of this article (10.1186/s12920-017-0294-x) contains supplementary material, which is available to authorized users. |
| Databáze: | OpenAIRE |
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