Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro.

Autor:	Natesan SA; Illumina, Cambridge, UK., Bladon AJ; Illumina, Cambridge, UK., Coskun S; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Qubbaj W; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Prates R; Reprogenetics, Livingston, New Jersey, USA., Munne S; Reprogenetics, Livingston, New Jersey, USA., Coonen E; 1] Centre for Reproductive Medicine, Department of Obstetrics and Gynaecology, Maastricht University Medical Centre, Maastricht, The Netherlands [2] GROW, School for Oncology and Developmental Biology, University of Maastricht, Maastricht, The Netherlands., Dreesen JC; 1] GROW, School for Oncology and Developmental Biology, University of Maastricht, Maastricht, The Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Stevens SJ; 1] GROW, School for Oncology and Developmental Biology, University of Maastricht, Maastricht, The Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Paulussen AD; 1] GROW, School for Oncology and Developmental Biology, University of Maastricht, Maastricht, The Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Stock-Myer SE; Preimplantation Genetics, Melbourne IVF, East Melbourne, Victoria, Australia., Wilton LJ; Preimplantation Genetics, Melbourne IVF, East Melbourne, Victoria, Australia., Jaroudi S; Reprogenetics UK, Institute of Reproductive Sciences, Oxford, UK., Wells D; Reprogenetics UK, Institute of Reproductive Sciences, Oxford, UK., Brown AP; Illumina, Cambridge, UK., Handyside AH; 1] Illumina, Cambridge, UK [2] The Bridge Centre, London, UK.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2014 Nov; Vol. 16 (11), pp. 838-45. Date of Electronic Publication: 2014 May 08.
DOI:	10.1038/gim.2014.45
Abstrakt:	Purpose: Our aim was to compare the accuracy of family- or disease-specific targeted haplotyping and direct mutation-detection strategies with the accuracy of genome-wide mapping of the parental origin of each chromosome, or karyomapping, by single-nucleotide polymorphism genotyping of the parents, a close relative of known disease status, and the embryo cell(s) used for preimplantation genetic diagnosis of single-gene defects in a single cell or small numbers of cells biopsied from human embryos following in vitro fertilization. Methods: Genomic DNA and whole-genome amplification products from embryo samples, which were previously diagnosed by targeted haplotyping, were genotyped for single-nucleotide polymorphisms genome-wide detection and retrospectively analyzed blind by karyomapping. Results: Single-nucleotide polymorphism genotyping and karyomapping were successful in 213/218 (97.7%) samples from 44 preimplantation genetic diagnosis cycles for 25 single-gene defects with various modes of inheritance distributed widely across the genome. Karyomapping was concordant with targeted haplotyping in 208 (97.7%) samples, and the five nonconcordant samples were all in consanguineous regions with limited or inconsistent haplotyping results. Conclusion: Genome-wide karyomapping is highly accurate and facilitates analysis of the inheritance of almost any single-gene defect, or any combination of loci, at the single-cell level, greatly expanding the range of conditions for which preimplantation genetic diagnosis can be offered clinically without the need for customized test development.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu