Preimplantation genetic diagnosis for monogenic diseases;Le diagnostic génétique préimplantatoire des maladies monoǵeniques

Annales de Biologie Clinique

Volumn 61, Issue 5, 2003, Pages 521-532

  Moutou, C ^a   Viville, S ^a,b  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

Molecular biology; Monogenic disease; PCR; Preimplantation genetic diagnosis (PGD)

Indexed keywords

CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; FEMALE; FORECASTING; FRANCE; GENETIC DISORDER; GENETICS; HUMAN; METHODOLOGY; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; REVIEW; X CHROMOSOME LINKED DISORDER;

CHROMOSOME DISORDERS; CYTOGENETIC ANALYSIS; FEMALE; FORECASTING; FRANCE; GENETIC DISEASES, INBORN; GENETIC DISEASES, X-LINKED; HUMANS; POLYMERASE CHAIN REACTION; PREGNANCY; PREIMPLANTATION DIAGNOSIS;

EID: 0141674783     PISSN: 00033898     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (58)

1. Viville S, Ray P, Viville B, Handyside A, Gerlinger P. Diagnostic génétique préimplantatoire: techniques et résultats. Med Sci 1996; 12: 1378-88.
2. Verlinsky Y, Rechitsky S, Verlinsky O, et al. Prepregnancy testing for single-gene disorders by polar body analysis. Genet Test 1999; 3: 185-90.
3. Verlinsky Y, Rechitsky S, Verlinsky O, Strom C, Kuliev A. Preimplanration testing for phenylketonuria. Fertil Steril 2001; 76: 346-9.
4. Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990; 344: 768-70.
5. Jeffreys AJ, Wilson V, Neumann R, Keyte J. Amplification of human minisatellites by the polymerase chain reaction: towards DNA fingerprinting of single cells. Nucleic Acids Res 1988; 16: 10953-71.
6. Thornhill AR, Mcgrath JA, Eady RA, Braude PR, Handyside AH. A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. Prenat Diagn 2001; 21: 490-7.
7. Findlay I, Urquhart A, Quirke P, Sullivan K, Rutherford AJ, Lilford RJ. Simultaneous DNA 'fingerprinting', diagnosis of sex and single-gene defect status from single cells. Hum Reprod 1995; 10: 1005-13.
8. Sermon K, De Vos A, Van De Velde H, et al. Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert's disease). Mol Hum Reprod 1998; 4: 791-6.
9. El-Hashemite N, Delhanty JD. A technique for eliminating allele specific amplification failure during DNA amplification of heterozygous cells for preimplantation diagnosis. Mol Hum Reprod 1997; 3: 975-8.
10. Ray P, Handyside A. Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis. Mol Hum Reprod 1996; 2: 213-8.
11. Schulze E, Bettendorf M, Maser-Gluth C, Decker M, Schwabe U. Allele-dropout using PCR-based diagnosis for the splicing mutation in intron-2 of the CYP21B-gene: successful amplification with a Taq/Pwo-polymerase mixture. Endocr Res 1998; 24: 637-41.
12. Tarin JJ, Handyside Ah. Embryo biopsy strategies for preimplantation diagnosis. Ferfil Steril 1993; 59: 943-52.
13. Van De Velde H, De Vos A, Sermon K, et al. Embryo implantation after biopsy of one or two cells from cleavage-stage embryos with a view to preimplantation genetic diagnosis. Prenat Diagn 2000; 20: 1030-7.
14. Longo MC, Berninger MS, Hartley JL. Use of uracil DNA glycosylase to control carry-over contamination in polymerase chain reactions. Gene 1990; 93: 125-8.
15. Cimin GD, Metchette KC, Tessman JW, Hearst JE, Isaacs St. Post-PCR sterilization: a method to control carryover contamination for the polymerase chain reaction. Nucleic Acids Res 1991; 19: 99-107.
16. Zhu YS, Isaacs ST, Cimino CD, Hearst JE. The use of exonuclease III for polymerase chain reaction sterilization. Nucleic Acids Res 1991; 19: 2511.
17. Van De Velde H, Sermon K, De Vos A, et al. Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia. Mol Hum Reprod 1999; 5: 691-6.
18. Liu J, Lissens W, Devroey P, Van Steirteghem A, Liebaers I. Efficiency and accuracy of polymerase-chain-reaction assay for cystic fibrosis allele delta F508 in single cell. Lancer 1992; 339: 1190-2.
19. Chong SS, Kristjansson K, Cota J, Handyside AH, Hughes MR. Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences. Hum Mol Genet 1993; 2: 1187-91.
20. Levinson G, Fields RA, Harton GL, et al. Reliable gender screening for human preiplantation embryos, using multiple DNA target-sequences. Hum Reprod 1992; 7: 1304-13.
21. Coonen E, Dumoulin JC, Ramaekers FC, Hopman AH. Optimal preparation of preimplantation embryo interphase nuclei for analysis by fluorescence in situ hybridization. Hum Reprod 1994; 9: 533-7.
22. Ray PF, Vekemans M, Munnich A. Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination. Mol Hum Reprod 2001; 7: 489-94.
23. Sermon K, Seneca S, Vanderfaeillie A, et al. Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG. Prenat Diagn 1999; 19: 1223-30.
24. Liu J, Lissens W, Silber SJ, Devroey P, Liebaers I, Van Steirteghem A. Birth after preimplantation diagnosis of the cystic fibrosis delta F508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm. JAMA 1994; 272: 1858-60.
25. Committee Epcs ESHRE. Preimplantation genetic diagnosis consortium: data collection III (May 2001). Hum Reprod 2002; 17: 233-46.
26. Thornhill AR, Snow K. Molecular diagnostics in preimplantation genetic diagnosis. J Mol Diagn 2002; 4: 11-29.
27. Moutou C, Viville S. Improvement of preimplantation genetic diagnosis (PGD) for the cystic fibrosis mutation delta F508 by fluorescent polymerase chain reaction [letter]. Prenat Diagn 1999; 19: 1248-50.
28. Handyside AH, Lesko JG, Tarin JJ, Winston RM, Hughes MR. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med 1992; 327: 905-9.
29. Fallon L, Harton GL, Sisson ME, et al. Preimplantation genetic diagnosis for spinal muscular atrophy type I. Neurology 1999; 53: 1087-90.
30. Moutou C, Rongieres C, Bettahar-Lebugle K, Gardes N, Philippe C, Viville S Preimplantation genetic diagnosis (PGD) for achondroplasia, genetics and gynecological limits and difficulties. Soumis pour publication. Human Reproduction 2003; 18: 509-14.
31. Moutou C, Gardes N, Rongieres C, et al. Allele-specific amplification for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy. Prenat Diagn 2001; 21: 498-503.
32. Sermon K, Seneca S, Vanderfaeillie A, et al. Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG. Prenat Diagn 1999; 19: 1223-30.
33. Ray P, Frydman N, Frydman R, Vekemans M, Munnich A. Detection of expanded CAG repeats at the myotonic dystrophy (DM) locus in single cells by triplet primed PCR (TP-PCR) for preimplantation genetic diagnosis (PGD). Am J Hum Genet 2001; 69: 2850.
34. Sermon K, Seneca S, De Rycke M, et al. PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome. Mol Cell Endocrinol 2001; 183: S77-85.
35. Ao A, Wells D, Handyside AH, Winston RM, Delhanty JD. Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coli. J Assist Reprod Genet 1998; 15: 140-4.
36. Kanavakis E, Vrettou C, Palmer G, Tzetis M, Mastrominas M, Traeger-Synodinos J. Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: clinical experience including the initiation of six singleton pregnancies. Prenat Diagn 1999; 19: 1217-22.
37. Thornhill AR, Pickering SJ, Whittock NV, et al. Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report. Prenat Diagn 2000; 20: 1055-62.
38. Dreesen JC, Jacobs LJ, Bras M. Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis. Mol Hum Reprod 2000; 6: 391-6.
39. Moutou C, Gardes N, Viville S. Multiplex PCR combining deltaF508 mutation and intragenic microsatellites of the CFTR gene for pre-implantation genetic diagnosis (PGD) of cystic fibrosis. Eur J Hum Genet 2002; 10: 231-8.
40. Harton GL, Tsipouras P, Sisson ME, et al. Preimplantation genetic testing for Marfan syndrome. Mol Hum Reprod 1996; 2: 713-5.
41. Viville S, Ray P, Wittemer C, Ohl J, Dellenbach P, Gerlinger P. Diagnostic génétique préimplantatoire: législation et aspects éthiques. Med Sci 1996; 12: 1394-7.
42. Sermon K, De Rijcke M, Lissens W, et al. Preimplantation genetic diagnosis for Huntington's disease with exclusion testing. Eur J Hum Genet 2002; 10: 591-8.
43. Apessos A, Abou-Sleiman PM, Harper JC, Delhanty JD. Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers. Prenat Diagn 2001; 21: 504-11.
44. Lewis CM, Pinel T, Whittaker JC, Handyside AH. Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error. Hum Reprod 2001; 16: 43-50.
45. Paunio T, Reima I, Syvanen AC. Preimplantation diagnosis by whole-genome amplification, PCR amplification, and solid-phase minisequencing of blastomere DNA. Clin Chem 1996; 42: 1382-90.
46. Zhang L, Cui X, Schmitt K, Hubert R, Navidi W, Arnheim N. Whole genome amplification from a single cell: implications for genetic analysis. Proc Natl Acad Sci USA 1992; 89: 5847-51.
47. Sermon K, Lissens W, Joris H, et al. Adaptation of the primer extension preamplificatlon (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols. Mol Hum Reprod 1996; 2: 209-12.
48. Wilton L, Williamson R, Mcbain J, Edgar D, Voullaire L. Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N Engl J Med 2001; 345: 1537-41.
49. White MB, Carvalho M, Derse D, O'brien SJ, Dean M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics 1992; 12: 301-6.
50. O'donovan MC, Oefner PJ, Roberts SC, et al. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics 1998; 52: 44-9.
51. Drury KC, Liu MC, Lilleberg S, Kipersztok S, Williams RS. Results on single cell PCR for Huntington's gene and Wave product analysis for preimplantation genetic diagnosis. Mol Cell Endocrinol 2001; 183: S1-4.
52. Pertl B, Weitgasser U, Kopp S, Kroisel Pm, Sherlock J, Adinolfi M. Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR. Hum Genet 1996; 98: 55-9.
53. Sherlock J, Cirigliano V, Petrou M, Tutschek B, Adinolfi M. Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells. Ann Hum Genet 1998: 62 (Pt 1): 9-23.
54. Pals G, Young C, Mao HS, Worsham MJ. Detection of a single base substitution in a single cell using the LightCycler. J Biochem Biophys Methods 2001; 47: 121-9.
55. Pierce KE, Rice JE, Sanchez JA, Brenner C, Wangh LJ. Real-time PCR using molecular beacons for accurate detection of the Y chromosome in single human blastomeres. Mol Hum Reprod 2000; 6: 1155-64.
56. Hughes TR, Roberts CJ, Dai H. Widespread aneuploidy revealed by DNA microarray expression profiling. Nat Genet 2000; 25: 333-7.
57. Viville S et le groupe GET-DPI. Le diagnostic préimplantatoire (DPI) en France : bilan d'activité du Groupe d'étude et de travail du diagnostic préimplantatoire (GET-DPI) année 2000. Med/Sci 2001; 17: 919-23.
58. Ray Pf, Gigarel N, Bonnefont JP. First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency. Prenat Diagn 2000; 20: 1048-54.