Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015 Mar;32(3):347-56.
doi: 10.1007/s10815-014-0405-y. Epub 2015 Jan 6.

Karyomapping-a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome

Alan R Thornhill  1 , Alan H Handyside, Christian Ottolini, Senthil A Natesan, Jon Taylor, Karen Sage, Gary Harton, Kerry Cliffe, Nabeel Affara, Michalis Konstantinidis, Dagan Wells, Darren K Griffin
Affiliations

Karyomapping-a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome

Alan R Thornhill et al. J Assist Reprod Genet. 2015 Mar.
No abstract available

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Analysis of three short tandem repeat (STR) markers and thec.235C>T mutation in FBN1 by capillary electrophoresis
Fig. 2
Fig. 2
Detailed Karyomaps for chromosome 15q21.1 in single blastomeres biopsied from each cleavage stage embryo. Consecutive informative single nucleotide polymorphism (SNP) loci for the four parental chromosomes are represented by two pairs of columns in each case (paternal, left and maternal, right) in which each segment is an informative SNP. Single cell genotypes identifying the presence of one of the four parental chromosomes at informative SNP loci are coloured (paternal chromosomes P1 and P2 are indicated in blue and red respectively; maternal chromosomes M1 and M2 in yellow and green respectively). The Karyomaps of a 5–6 Mb region of chromosome 15q21.1 of the affected child, known to be a carrier of both paternal mutations (P1—blue) and used as a reference for phase, and seven single blastomeres biopsied from six cleavage stage embryos are presented (M1—yellow chromosome also assigned). Otherwise, informative SNP genotypes, which indicate the absence of that chromosome or are not called, are coloured grey. The position of fibrillin-1 (FBN1) relative to the SNP loci is indicated by the light blue bars. The positions of the three short tandem repeat (STR) markers, D15S143, D15S196 and D15S659 used for conventional analysis are indicated on the left. Three embryos are identified as having the unaffected (red) paternal chromosome (Embryos 1, 4 and 5); one embryo has the affected paternal chromosome (blue) also present in the affected child (Embryo 2), and two embryos are missing the paternal chromosomes either because of the complete absence of the paternal genome in a parthenogenetically activated embryo (Embryo 3) or paternal monosomy 15 (Embryo 6). (See “Results” and “Discussion” Sections for more detail). The genomic DNA from the affected child, the first single blastomere from Embryo 1 and the two abnormal embryos, Embryos 3 and 6, were genotyped on the normal 3 day protocol. For comparison, all of the other cells, including the second blastomere from Embryo 1, were genotyped using the 24 h protocol. Abbreviations used: Emb embryo, Bm blastomere (cell), X crossover, asterix* miscall
Fig. 3
Fig. 3
Karyomap of a single blastomere focussing on a region of chromosome 6. The image indicates that there are 11 loci in this region corresponding to disorders currently licensed for PGD by the HFEA. This includes the HLA regions used for diagnoses of saviour siblings
See this image and copyright information in PMC

References

    1. Harton GL, De Rycke M, Fiorentino F, Moutou C, SenGupta S, Traeger-Synodinos J, et al. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2011;26(1):33–40. doi: 10.1093/humrep/deq231. - DOI - PubMed
    1. Handyside AH, Xu K. Preimplantation genetic diagnosis comes of age. Semin Reprod Med. 2012;30:255–258. doi: 10.1055/s-0032-1313904. - DOI - PubMed
    1. Renwick P, Trussler J, Lashwood A, Braude P, Ogilvie CM. Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod BioMed Online. 2010;20:470–476. doi: 10.1016/j.rbmo.2010.01.006. - DOI - PubMed
    1. Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA. 2001;285:3130–3133. doi: 10.1001/jama.285.24.3130. - DOI - PubMed
    1. Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara N, Shaw M-A, et al. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. 2010;47:651–658. doi: 10.1136/jmg.2009.069971. - DOI - PubMed

Publication types