Comparison of FISH, PRINS, and conventional and fluorescent PCR for single-cell sexing: Suitability for preimplantation genetic diagnosis

Journal of Assisted Reproduction and Genetics

Volumn 15, Issue 5, 1998, Pages 258-265

  Findlay, Ian ^a   Corby, Nicole ^a   Rutherford, Anthony ^b   Quirke, Philip ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b LEEDS GENERAL INFIRMARY   (United Kingdom)

Author keywords

Flourescent in situ hybridization; Preimplantation genetic diagnosis; Primed in situ synthesis; Sexing; Single cell PCR

Indexed keywords

CONFERENCE PAPER; DIAGNOSTIC ACCURACY; EMBRYO; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; IN SITU HYBRIDIZATION; MALE; POLYMERASE CHAIN REACTION; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEX DETERMINATION;

BIOTIN; BLASTOMERES; DEOXYURACIL NUCLEOTIDES; DIGOXIGENIN; FEMALE; HUMANS; IN SITU HYBRIDIZATION; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOUTH MUCOSA; OOCYTES; POLYMERASE CHAIN REACTION; SEX DETERMINATION (GENETICS);

EID: 0031902463     PISSN: 10580468     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1022584225311     Document Type: Conference Paper

References (28)

1. Handyside AH, Delhanty JDA: Cleavage stage biopsy of preimplantation embryos and diagnosis of X chromosome-linked recessive disease. In Preconception and Preimplantation Diagnosis of Human Genetic Disease, RG Edwards (ed). Cambridge, Cambridge University Press, 1993, pp 239-270
2. Strom CM, Verlinsky Y, Milayeva-Rechitsky S, Evsikov S, Cieslak J, Lifchez A, Valle J, Moise J, Ginsberg N, Applebaum M: Preconception genetic analysis for cystic fibrosis by polar body removal and DNA analysis. Lancet 1990;336:306-307
3. Handyside AH, Lesko JG, Tarin JJ, Winston RML, Hughes M: Birth of a normal girl after in vitro fertilisation and preimplantation diagnosis testing for cystic fibrosis. N Engl J Med 1992;327:905-909
4. Grifo JA, Tang YX, Munne S, Alikani M, Cohen J, Rosenwaks Z: Healthy deliveries from biopsied human embryos. Hum Reprod 1994;9(5):912-916
5. Munne S, Weier HU, Stein J, Grifo J, Cohen J: A fast and efficient method for simultaneous X and Y in situ hybridization of human blastomeres. J Assist Reprod Genet 1993;10(1):82-90
6. Delhanty J, Griffin D, Handyside A, Harper J, Atkinson G, Pieters M, Winston R: Detection of anaploidy and mosaicism in human embryos during preimplantation sex determination by FISH. Hum Mol Genet 1993;2(8):1183-1185
7. Delhanty JDA, Handyside, AH, Winston RML: Preimplantation diagnosis. Lancet 1994;343(8912):1569-1570
8. Harper JC, Coonen E, Ramaekers PCS, Delhanty JDA, Handyside AH, Winston RML, Hopman AHN: Identification of the sex of human preimplantation embryos in 2 hours using an improved spreading method and fluorescent in-situ hybridization (FISH) using directly labeled probes. Hum Reprod 1994;9(4):721-724
9. Verlinsky Y, Rechitsky S, Freidine M, Strom C, Cieslak J, Lifchez A: Birth of a healthy girl after preimplantation gender determination using a combination of PCR and FISH. Fertil Steril 1996;65(2):358-360
10. Delhanty JDA, Harper JC, Ao A, Handyside AH, Winston RML: Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients. Hum Genet 1997;99(6):755-760
11. Koch J, Hindkjaer J, Morgensen J, Kolvraa S, Bolund L: An improved method for chromosome specific labelling of alpha satellite DNA in situ by using denatured double stranded DNA probes as primers in PRINS. Genetl Anal Tech Appl 1991; 8(6):171-178
12. Hindkjaer J, Koch J, Terkelsen C, Brandt CA, Kolvraa S, Bolund L: Fast, sensitive multicolour detection of nucleic acids in situ, by PRINS. Cytogenet Cell Genet 1994;66:152-154
13. Cinti C, Santi S, Maraldi NM: Localisation of a single gene copy by the PRINS technique. Nucleic Acid Res 1993; 21:5799-5800
14. Volpi EC, Baldini A: Multi PRINS as a method for multi colour primed in situ labelling. Chromosome Res 1993;1(4):257-260.
15. Pellestor F, Girardet A, Andreo B, Arnai F, Humeau C: Relationship between morphology and chromosome constitution in human preimplantation embryos. Mol Reprod Dev 1994; 39(2):141-146
16. Pellestor F, Girardet A, Andreo B, Lefort G, Charlieu JP: Preimplantation embryo chromosome analysis by PRINS labelling method. Fertil Steril 1996;66(5):781-786
17. Saiki R, Scharf S, Faloona F, Mullis K, Horn G, Erlich H, Arnheim N: Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 1985;230:1350-1354
18. Li A, Gyllensten UB, Cui X, Saiki RK, Erlich HA, Arnheim N: Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature 1988;335:414-419
19. Arnheim N, Li H, Cui X: Genetic-mapping by single sperm typing Anim Genet 1991;22(2):105-115
20. Tracy TE, Mulcahy LS: A simple method for direct automated sequencing of PCR fragments. Biotechniques 1991; 11(1):68-75
21. Zeigle JS, Su Y, Corcoran KP, Nie L, Mayrand PE, Hoff LB, McBride LJ, Kronick MN, Diehl SR: Application of automated DNA sizing technology for genotyping microsatellite loci. Genomics 1992;14(4):1026-1031
22. Kimpton CP, Gill P, Walton A, Urquhart A, Millican ES, Adams M: Automated DNA profiling employing multiplex amplification of short tandem repeat loci. PCR Methods Appl 1993; 13:13-22
23. Hattori M, Yoshioka K, Sakaki Y: Highly-sensitive fluorescent DNA sequencing and its application for detection and mass- screening of point mutations. Electrophoresis 1992; 13(8):560-565
24. Findlay I, Quirke P: Fluorescent polymerase chain reaction. Part 1. A new method allowing genetic diagnosis and DNA fingerprinting of single cells. Hum Reprod (update) 1996; 2(2):137-152
25. Findlay I, Lewis F, Quirke P, Rutherford A, Lilford R: Simultaneous DNA fingerprinting and diagnosis of sex and cystic fibrosis status from a single cell: Applications for pre-implantation diagnosis. Hum Reprod 1994;9(3):23
26. Findlay I, Pierre R, Quirke P, Rutherford A, Lilford R: Allelic dropout and preferential amplification in single cells and human blastomeres: Implications for preimplantation diagnosis of sex and cystic fibrosis. Hum Reprod 1995;10(6): 1609-1618
27. Findlay I., Frazier R., Taylor A, Quirke P., Urquhart A: Single cell DNA fingerprinting for forensic applications. Nature (1997;389:355-356
28. Handyside AH, Penketh RJA, Winston RML, Pattison JK, Delhanty JDA, Tuddenham EGD: Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet 1989;8634:347-349