Preimplantation Genetic Diagnosis in Genomic Regions with Duplications and Pseudogenes: Long-Range PCR in the Single-Cell Assay

Human Mutation

Volumn 34, Issue 5, 2013, Pages 792-799

  Zeevi, David A ^a   Renbaum, Paul ^a   Ron El, Raphael ^b   Eldar Geva, Talia ^a,c   Raziel, Arieh ^b   Brooks, Baruch ^a   Strassburger, Dvorah ^b   Margalioth, Ehud J ^a   Levy Lahad, Ephrat ^a,c   Altarescu, Gheona ^a,c  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c HEBREW UNIVERSITY   (Israel)

Author keywords

Amplification; Genetic diagnosis; IKBKG; PKD1; Preimplantation; Pseudogene

Indexed keywords

ALLELE; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; FEMALE; GENE DUPLICATION; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; MOSAICISM; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREIMPLANTATION GENETIC DIAGNOSIS; PRIORITY JOURNAL; PSEUDOGENE;

BASE SEQUENCE; DNA PRIMERS; FEMALE; GENE DUPLICATION; HUMANS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PREIMPLANTATION DIAGNOSIS; PSEUDOGENES; SINGLE-CELL ANALYSIS; TRPP CATION CHANNELS;

EID: 84876319320     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22298     Document Type: Article

References (23)

1. Altarescu G, Beeri R, Eldar-Geva T, Varshaver I, Margalioth EJ, Levy-Lahad E, Renbaum P. 2012. PGD for germline mosaicism. Reprod Biomed Online 25(4):390-395.
2. Altarescu G, Brooks B, Kaplan Y, Eldar-Geva T, Margalioth EJ, Levy-Lahad E, Renbaum P. 2006. Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1. Hum Reprod 21(8):2047-2051.
3. Altarescu G, Eldar-Geva T, Varshower I, Brooks B, Haran EZ, Margalioth EJ, Levy-Lahad E, Renbaum P. 2009. Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations. Hum Reprod 24(12):3225-3229.
4. Altarescu G, Eldar Geva T, Brooks B, Margalioth E, Levy-Lahad E, Renbaum P. 2008. PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis. Prenat Diagn 28(10):929-933.
5. Bardaro T, Falco G, Sparago A, Mercadante V, Gean Molins E, Tarantino E, Ursini MV, D'Urso M. 2003. Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion. Hum Mutat 21(1):8-11.
6. Clamp M, Fry B, Kamal M, Xie X, Cuff J, Lin MF, Kellis M, Lindblad-Toh K, Lander ES. 2007. Distinguishing protein-coding and noncoding genes in the human genome. Proc Natl Acad Sci USA 104(49):19428-19433.
7. Dean FB, Hosono S, Fang L, Wu X, Faruqi AF, Bray-Ward P, Sun Z, Zong Q, Du Y, Du J, Driscoll M, Song W, et al. 2002. Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci USA 99(8):5261-5266.
8. Frumkin D, Wasserstrom A, Itzkovitz S, Stern T, Harmelin A, Eilam R, Rechavi G, Shapiro E. 2008. Cell lineage analysis of a mouse tumor. Cancer Res 68(14):5924-5931.
9. Handyside AH, Kontogianni EH, Hardy K, Winston RM. 1990. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344(6268):768-770.
10. Harton GL, De Rycke M, Fiorentino F, Moutou C, SenGupta S, Traeger-Synodinos J, Harper JC; European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium. 2011. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod 26(1):33-40.
11. Jiang Z, Zhang X, Deka R, Jin L. 2005. Genome amplification of single sperm using multiple displacement amplification. Nucleic Acids Res 33(10):e91.
12. Kakourou G, Dhanjal S, Daphnis D, Doshi A, Nuttall S, Gotts S, Serhal P, Delhanty J, Harper J, SenGupta S. 2007. Preimplantation genetic diagnosis for myotonic dystrophy type 1: detection of crossover between the gene and the linked marker APOC2. Prenat Diagn 27(2):111-116.
13. Landy SJ, Donnai D. 1993. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 30(1):53-59.
14. Mighell AJ, Smith NR, Robinson PA, Markham AF. 2000. Vertebrate pseudogenes. FEBS Lett 468(2-3):109-114.
15. Renbaum P, Brooks B, Kaplan Y, Eldar-Geva T, Margalioth EJ, Levy-Lahad E, Altarescu G. 2007. Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease. Prenat Diagn 27(4):317-321.
16. Renwick P, Trussler J, Lashwood A, Braude P, Ogilvie CM. 2010. Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod Biomed Online 20(4):470-476.
17. Renwick PJ, Trussler J, Ostad-Saffari E, Fassihi H, Black C, Braude P, Ogilvie CM, Abbs S. 2006. Proof of principle and first cases using preimplantation genetic haplotyping-a paradigm shift for embryo diagnosis. Reprod Biomed Online 13(1):110-119.
18. Rossetti S, Chauveau D, Walker D, Saggar-Malik A, Winearls CG, Torres VE, Harris PC. 2002. A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int 61(5):1588-1599.
19. Shlush LI, Chapal-Ilani N, Adar R, Pery N, Maruvka Y, Spiro A, Shouval R, Rowe JM, Tzukerman M, Bercovich D, Izraeli S, Marcucci G, et al. 2012. Cell lineage analysis of acute leukemia relapse uncovers the role of replication-rate heterogeneity and microsatellite instability. Blood 120(3):603-612.
20. Torrents D, Suyama M, Zdobnov E, Bork P. 2003. A genome-wide survey of human pseudogenes. Genome Res 13(12):2559-2567.
21. Verlinsky Y, Cohen J, Munne S, Gianaroli L, Simpson JL, Ferraretti AP, Kuliev A. 2004. Over a decade of experience with preimplantation genetic diagnosis. Fertil Steril 82(2):302-303.
22. Verlinsky Y, Kuliev A. 2005. Atlas of preimplantation genetic diagnosis. London: Taylor & Francis.
23. Zheng YM, Wang N, Li L, Jin F. 2011. Whole genome amplification in preimplantation genetic diagnosis. J Zhejiang Univ Sci B 12(1):1-11.