A technique for eliminating allele specific amplification failure during DNA amplification of heterozygous cells for preimplantation diagnosis

Molecular Human Reproduction

Volumn 3, Issue 11, 1997, Pages 975-978

  Ei Hashemite, Nisreen ^a   Delhanty, Joy D A ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

thalassaemia; Allele drop out; Cystic fibrosis; Nested PCR; Preimplantation diagnosis

Indexed keywords

DNA;

ALLELE; ARTICLE; FEMALE; FERTILIZATION IN VITRO; HETEROZYGOTE; HUMAN; MALE; METHODOLOGY; PRENATAL DIAGNOSIS;

ALLELES; DNA; FEMALE; FERTILIZATION IN VITRO; HETEROZYGOTE; HUMANS; MALE; PREIMPLANTATION DIAGNOSIS;

EID: 0031264839     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Delhanty, J.D.A. (1994) Preimplantation diagnosis. Prenatal Diagn., 14, 1217-1227.
2. El-Hashemite, N., Wells, D. and Delhanty, J.D.A. (1996) Preimplantation genetic diagnosis of β thalassaemia. Lancet, 348, 620-621.
3. El-Hashemite, N., Wells, D. and Delhanty, J.D.A. (1997) Single cell detection of β thalassaemia mutations using silver stained SSCP analysis: an application for preimplantation diagnosis. Mol. Hum. Reprod., 3, 693-698.
4. Findlay, I., Ray, P., Quirke, P. et al (1995) Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Mol. Hum. Reprod., 1, see Hum. Reprod., 10, 1609-1618.
5. Gitlin, S.A., Lanzendorf, S.E. and Gibbson, WE. (1996) Polymerase chain reaction amplification specificity: Incidence of allele drop out using different DNA preparation methods for heterozygous single cells. J. Assist. Reprod. Genet., 13, 107-111.
6. Handyside, A.H.(1993) Diagnosis of inherited diseases before implantation. Reprod. Med. Rev., 2, 51-61.
7. Harper, J.C. (1996) Preimplantation diagnosis of inherited disease by embryo biopsy: an update of the world figures (1996). J. Assist Reprod. Genet., 13, 90-95.
8. Holding, C., Bentley, D., Roberts, R et al. (1993) Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy. J. Med. Genet., 30, 903-909.
9. Jeffreys, A.J., Wilson, V., Neumann, R. and Keyte, J. (1988) Amplification of human minisatellites by the polymerase chain reaction: towards fingerprinting of single cells. Nucleic Acids Res., 16, 10953-10971.
10. Kerem, B., Romnens, J.M., Buchanan, J.A. et al. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science, 245, 1073-1080.
11. Li, H., Cui, X. and Arnheim, N. (1991) Analysis of DNA sequence variation in single cells. In Methods: a Comparison to Methods in Enzymology. Vol 2. Academic Press, New York, USA, pp. 49-59.
12. Ray, P and Handyside, A (1996a) Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis. Mol. Hum. Reprod., 2, 213-218.
13. Ray, P., Kaeda, J.S., Bingham, J. et al. (1996b) Preimplantation genetic diagnosis of β thalassaemia major. Lancet, 347, 1696.
14. Ray, P. and Handyside, A. (1996c) PCR from single cells for preimplantation diagnosis. In Elles, R. (ed.), Methods in Molecular Biology: Molecular Diagnosis of Genetic Diseases. Hummana Press Ine, New Jersey, USA, pp. 245-258.
15. Sermon, K., Lissens, W., Nagy, Z.P. et al. (1995) Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs Disease in single blastomeres. Hum. Reprod., 10, 2214-2217.
16. Weatherall, D.J. and Clegg, H.B. (1981) The Thalassaemia Syndrome. 3rd edn. Blackwell Scientific, Oxford, UK.
17. White, M.B., Carhalho, M., Derse, D. et al. (1992) Detection of single base substitutions as heteroduplex polymorphisms. Genomics, 12, 301-306.