References
Handyside AH, Lesko JG, Tarin JJ, Winston RM, Hughes MR. Birth of a normal girl after in vitro fertilization and pre-implantation diagnostic testing for cystic fibrosis. N Engl J Med. 1992;327(13):905–9.
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. 2010;26(1):33–40.
Wilton L, Thornhill A, Traeger-Synodinos J, Sermon KD, Harper JC. The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod. 2009;24(5):1221–8.
Ellegren H. Microsatellites: simple sequences with complex evolution. Nat Rev. 2004;5(6):435–45.
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409(6822):860–921.
Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, et al. Rate of de novo mutations and the importance of father’s age to disease risk. Nature. 2012;488(7412):471–5.
Nachman MW. Variation in recombination rate across the genome: evidence and implications. Curr Opin Genet Dev. 2002;12:657–63.
Treff NR, Fedick A, Tao X, Devkota B, Taylor D, Scott Jr RT. Evaluation of targeted next-generation sequencing-based pre-implantation genetic diagnosis of monogenic disease. Fertil Steril. 2013;99:1377–84.
Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I. Constitutional mutations in RTEL1 cause severe Dyskeratosis Congenita. Am J Hum Genet. 2013;92(3):448–53.
Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, et al. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Hum Genet. 2013;132(4):473–80.
Treff NR, Tao X, Ferry KM, Su J, Taylor D, Scott Jr RT. Development and validation of an accurate quantitative real-time polymerase chain reaction-based assay for human blastocyst comprehensive chromosomal aneuploidy screening. Fertil Steril. 2012;97(4):819–24. e2.
Verlinsky Y, Cohen J, Munne S, Gianaroli L, Simpson JL, Ferraretti AP, et al. Over a decade of experience with pre-implantation genetic diagnosis: a multicenter report. Fertil Steril. 2004;82(2):292–4.
Fedick A, Su J, Jalas C, Northrop L, Devkota B, Ekstein J, et al. High-throughput carrier screening using TaqMan allelic discrimination. PLoS One. 2013;8(3):1–9.
Kong ATG, Gudbjartsson DF, Masson G, Sigurdsson A, Jonasdottir A, Walters GB, et al. Fine-scale recombination rate differences between sexes, populations and individuals. Nature. 2010;467:1099–103.
Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara NA, Shaw MA, 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(10):651–8.
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. Reproductive biomedicine online; 2010.
Author information
Authors and Affiliations
Corresponding author
Electronic supplementary material
Below is the link to the electronic supplementary material.
Supplementary Table 1
(PDF 283 kb)
Rights and permissions
About this article
Cite this article
Gueye, NA., Jalas, C., Tao, X. et al. Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD. J Assist Reprod Genet 31, 1227–1230 (2014). https://doi.org/10.1007/s10815-014-0298-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10815-014-0298-9