Natesan, Senthilkumar A., Bladon, Alex J., Coskun, Serdar, Qubbaj, Wafa, Prates, Renata, Munne, Santiago, Coonen, Edith, Dreesen, Joseph C.F.M., Stevens, Servi J.C., Paulussen, Aimee D.C., and others. (2014) Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genetics in Medicine, 16 (11). pp. 838-845. ISSN 1098-3600. (doi:10.1038/gim.2014.45) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) (KAR id:59346)
The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided. | |
Official URL: http://doi.org/10.1038/gim.2014.45 |
Abstract
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.
Item Type: | Article |
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DOI/Identification number: | 10.1038/gim.2014.45 |
Uncontrolled keywords: | karyomapping; preimplantation genetic diagnosis; single-gene defect; single-nucleotide polymorphism; whole-genome amplification |
Subjects: | Q Science |
Divisions: | Divisions > Division of Natural Sciences > Biosciences |
Depositing User: | Susan Davies |
Date Deposited: | 01 Dec 2016 14:57 UTC |
Last Modified: | 17 Aug 2022 11:01 UTC |
Resource URI: | https://kar.kent.ac.uk/id/eprint/59346 (The current URI for this page, for reference purposes) |
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