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

• DOI: 10.1038/gim.2014.45
• Publication Date: 2014-05-08T15:20:07Z
• Authors: Senthilkumar A. N...; Alex J. Bladon; Serdar Coskun; Wafa Qubbaj; Renata Prates; Santiago Munne; Edith Coonen; Joseph C.F.M. Dre...; Servi J.C. Stevens; Aimee D.C. Paulussen; Sharyn E. Stock-Myer; Leeanda J. Wilton; Souraya Jaroudi; Dagan Wells; Anthony P.C. Brown; Alan H. Handyside
• Keywords: Preimplantation Genetic Diagnosis

Our aim was to compare the accuracy of family- or disease-specific targeted haplotyping and direct mutation-detection strategies with genome-wide mapping parental origin each chromosome, karyomapping, by single-nucleotide polymorphism genotyping parents, a close relative known disease status, embryo cell(s) used for preimplantation genetic diagnosis single-gene defects in single cell small numbers cells biopsied from human embryos following vitro fertilization.Genomic DNA whole-genome amplification products samples, which were previously diagnosed haplotyping, genotyped polymorphisms detection retrospectively analyzed blind karyomapping.Single-nucleotide karyomapping successful 213/218 (97.7%) samples 44 cycles 25 various modes inheritance distributed widely across genome. Karyomapping concordant 208 five nonconcordant all consanguineous regions limited inconsistent results.Genome-wide is highly accurate facilitates analysis almost any defect, combination loci, at single-cell level, greatly expanding range conditions can be offered clinically without need customized test development.