První zkušenosti s preimplantačním genetickým screeningem chromozomových abnormalit pomocí komparativní genomové hybridizace na oligonukleotidových DNA mikročipech
[First experiences with preimplantation genetic screening of chromosomal aberrations using oligonucleotide-based array comparative genomic hybridization]
Jazyk čeština Země Česko Médium print
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
26311028
PII: 52951
- Klíčová slova
- chromosomal aberrations - preimplantation genetic analysis - oligonucleotide-based microarray - array-CGH.,
- MeSH
- aneuploidie MeSH
- chromozomální aberace * MeSH
- lidé MeSH
- prediktivní hodnota testů MeSH
- preimplantační diagnóza metody MeSH
- sekvenční analýza hybridizací s uspořádaným souborem oligonukleotidů MeSH
- srovnávací genomová hybridizace * MeSH
- těhotenství MeSH
- variabilita počtu kopií segmentů DNA genetika MeSH
- Check Tag
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Preimplantation genetic diagnosis (PGD) is a complex approach for detecting genetic abnormalities in early-stage embryos using genetic or molecular cytogenetic methods. Recently, single cell genomic methods based on DNA microarrays have been used for PGD. In the presented paper, we discuss and demonstrate the possibility to detect copy number variation (CNVs) in trophectoderm cells biopsied from 5-day embryos using 60-mer oligonucleotide-based array-CGH with CytoSure 8 × 15K Aneuploidy Array. Whereas this microarray platform was originally designed for analysis of unamplified DNA derived from many cells, the new methods, developed for single-cell genomics, allow the application of oligo arrays technology in preimplanation genetic diagnosis. Preclinical validation of single cell array-CGH was made by analysis of 30 positive and negative controls. Validation process included whole genome amplification of DNA from 5-10 cells with normal karyotype and from samples with known aneuploidies and structural aberrations. Subsequently, we analyzed the whole genome profiles in 118 embryos; aneuploidies of chromosomes were observed in 26.7%; segmental imbalances were proved in 6.8% of embryos. Our first experience confirmed that this oligonucleotide-based array technique enables high-resolution preimplantation aneuploidy screening of all the 23 chromosome pairs and sensitive preimplantation diagnosis of segmental imbalances such as deletions, duplications and amplifications.