First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers

Molecular Human Reproduction

Volumn 9, Issue 2, 2003, Pages 111-116

  Girardet, A ^a   Hamamah, S ^a   Anahory, T ^a   Dechaud H ^b   Sarda, P ^b   Hedon B ^b   Demaille, J ^a   Claustres, M ^a  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

D13S284; Preimplantation genetic diagnosis; RB1.20; Retinoblastoma

Indexed keywords

FLUORESCENT DYE; RETINOBLASTOMA PROTEIN;

ARTICLE; BLASTOMERE; CASE REPORT; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA SEQUENCE; EMBRYO; GENE AMPLIFICATION; GENE LOCUS; GENETIC ANALYSIS; GENETIC PROCEDURES; HETEROZYGOSITY; HUMAN; LYMPHOCYTE; MICROSATELLITE MARKER; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETINOBLASTOMA;

ADULT; BLASTULA; EYE NEOPLASMS; FEMALE; GENETIC MARKERS; HUMANS; MALE; MICROSATELLITE REPEATS; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; REFERENCE VALUES; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN; SPERM INJECTIONS, INTRACYTOPLASMIC; TREATMENT OUTCOME;

EID: 0037292375     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/gag014     Document Type: Article

References (37)

1. Abou-Sleiman, P.M., Apessos, A., Harper, J.C., Serhal, P., Winston, R.M. and Delhanty, J.D. (2002) First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2). Prenat. Diagn., 22, 519-524.
2. Alonso, J., Garcia-Miguel, P., Abelairas, J., Mendiola, M. and Pestana, A. (2001) A microsatellite fluorescent method for linkage analysis in familial retinoblastoma and deletion detection at the RB1 locus in retinoblastoma and osteosarcoma. Diagn. Mol. Pathol., 10, 9-14.
3. Ao, A., Wells, D., Handyside, A.H., Winston, R.M. and Delhanty, J.D. (1998) Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coli. J. Assist. Reprod. Genet., 15, 140-144.
4. Apessos, A., Abou-Sleiman, P.M., Harper, J.C. and Delhanty, J.D. (2001) Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers. Prenat. Diagn., 21, 504-511.
5. Bookstein, R., Lee, E.Y., To, H., Young, L.J., Sery, T.W., Hayes, R.C., Friedmann, T. and Lee, W.H. (1988) Human retinoblastoma susceptibility gene: genomic organization and analysis of heterozygous intragenic deletion mutants. Proc. Natl Acad. Sci. USA, 85, 2210-2214.
6. Bremner, R., Du, D.C., Connolly-Wilson, M.J., Bridge, P., Ahmad, K.F., Mostachfi, H., Rushlow, D, Dunn, J.M. and Gallie, B.L. (1997) Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma. Am. J. Hum. Genet., 61, 556-570.
7. Cui, X.F., Li, H.H., Goradia, T.M., Lange, K., Kazazian, H.H.J., Galas, D. and Amheim, N. (1989) Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc. Natl Acad. Sci. USA, 86, 9389-9393.
8. De Vos, A. and Van Steirteghem, A. (2001) Aspects of biopsy procedures prior to preimplantation genetic diagnosis. Prenat. Diagn., 21, 767-780.
9. Dib, C., Faure, S., Fizames, C., Samson, D., Drouot, N., Vignal, A., Millasseau, P., Marc, S., Hazan, J., Seboun, E. et al. (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature, 380, 152-154.
10. Draper, G.J., Sanders, B.M. and Kingston, J.E. (1986) Second primary neoplasms in patients with retinoblastoma. Br. J. Cancer, 53, 661-671.
11. Dunn, J.M., Phillips, R.A., Zhu, X., Becker, A. and Gallie, B.L. (1989) Mutations in the RB1 gene and their effects on transcription. Mol. Cell. Biol., 9, 4596-4604.
12. Eftedal, I., Schwartz, M., Bendtsen, H., Andersen, A.N. and Ziebe, S. (2001) Single intragenic microsatellite preimplantation genetic diagnosis for cystic fibrosis provides positive allele identification of all CFTR genotypes for informative couples. Mol. Hum. Reprod., 7, 307-312.
13. Eng, C., Li, F.P., Abramson, D.H., Ellsworth, R.M., Wong, F.L., Goldman, M.B., Seddon, J., Tarbell, N. and Boice, J.D., Jr (1993) Mortality from second tumors among long-term survivors of retinoblastoma. J. Natl Cancer Inst., 85, 1121-1128.
14. Findlay, I., Quirke, P., Hall, J. and Rutherford, A. (1996) Fluorescent PCR: a new technique for PGD of sex and single-gene defects. J. Assist. Reprod Genet., 13, 96-103.
15. Girardet, A., Tuffery, S., Munier, F., Duperray, C., Claustres, M. and Pellestor, F. (1997) Amplification of the RB1.20 polymorphism in single spermatozoa. J. Assist. Reprod Genet., 14, 177-179.
16. Girardet, A., Lien, S., Leeflang, E.P., Beaufrère, L., Tuffery, S., Munier, F., Arnheim, N., Claustres, M. and Pellestor, F. (1999) Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing. Eur. J. Hum. Genet., 7, 239-242.
17. Girardet, A., McPeek, M.S., Leeflang, E.P., Munier, F., Arnheim, N., Claustres, M. and Pellestor, F. (2000) Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing. Am. J. Hum. Genet., 66, 167-175.
18. Goodrich, D.W., Wang, N.P., Qian, Y.W., Lee, E.Y. and Lee, W.H. (1991) The retinoblastoma gene product regulates progression through the G1 phase of the cell cycle. Cell, 67, 293-302.
19. Handyside, A.H., Kontogianni, E.H., Hardy, K. and Winston, R.M. (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature, 344, 768-770.
20. Harper, J.C., Coonen, E., Handyside, A.H., Winston, R.M., Hopman, A.H. and Delhanty, J.D. (1995) Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos. Prenat. Diagn., 15, 41-49.
21. Knudson, A.G. (1971) Mutation and cancer: statistical study of retinoblastoma. Proc. Natl Acad Sci. USA, 68, 820-823.
22. Loeys, B., Nuytinck, L., Van Acker, P., Walraedt, S., Bonduelle, M., Sermon, K., Hamel, B., Sanchez, A., Messiaen, L. and De Paepe, A. (2002) Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS). Prenat. Diagn., 22, 22-28.
23. Lohmann, D.R. (1999) RB1 gene mutations in retinoblastoma. Hum. Mutat., 14, 283-288.
24. Munne, S., Weier, H.U., Grifo, J. and Cohen, J. (1994) Chromosome mosaicism in human embryos. Biol. Reprod., 51, 373-379.
25. Onadim, Z., Hungerford, J. and Cowell, J.K. (1992) Follow-up of retinoblastoma patients having prenatal and perinatal predictions for mutant gene carrier status using intragenic polymorphic probes from the RB1 gene. Br. J. Cancer, 65, 711-716.
26. Otterson, G.A., Chen, W., Coxon, A.B., Khleif, S.N. and Kaye, F.J. (1997) Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function. Proc. Natl Acad. Sci. USA, 94, 12036-12040.
27. Pierce, K.E., Rice, J.E., Sanchez, J.A., Brenner, C. and Waugh, L.J. (2000) Real-time PCR using molecular beacons for accurate detection of the Y chromosome in single human blastomeres. Mol. Hum. Reprod., 6, 1155-1164.
28. Rechitsky, S., Strom, C., Verlinsky, O., Amet, T., Ivakhnenko, V., Kukharenko, V., Kuliev, A. and Verlinsky, Y. (1998) Allele dropout in polar bodies and blastomeres. J. Assist. Reprod Genet., 5, 253-257.
29. Sermon, K., De Vos, A., Van de Velde, H., Seneca, S., Lissens, W., Joris, H., Vandervorst, M., Van Steirteghem, A. and Liebaers, I. (1998) Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert's disease). Mol. Hum. Reprod., 4, 791-796.
30. Sermon, K., Seneca, S., Vanderfaeillie, A., Lissens, W., Joris, H., Vandervorst, M., Van Steirteghem, A. and Liebaers, I. (1999) Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG. Prenat. Diagn., 19, 1223-1230.
31. Sparkes, R.S., Murphree, A.L., Lingua, R.W., Sparkes, M.C., Field, L.L., Funderburk, S.J. and Benedict, W.F. (1983) Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Science, 219, 971-973.
32. Sütterlin, M., Sleiman, P.A., Onadim, Z. and Delhanty, J. (1999) Single cell detection of inherited retinoblastoma predisposition. Prenat. Diagn., 19, 1231-1236.
33. Toguchida, J., McGee, T.L., Paterson, J.C., Eagle, J.R., Tucker, S., Yandell, D.W. and Dryja, T.P. (1993) Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics, 17, 535-543.
34. Verlinsky, Y., Rechitsky, S., Verlinsky, O., Xu, K., Schattman, G., Masciangelo, C., Ginberg, N., Strom, C., Rosenwaks, Z. and Kuliev, A. (2001) Preimplantation diagnosis for p53 tumour suppressor gene mutations. Reprod. BioMed Online, 2, 102-105.
35. Vogel, F. (1979) Genetics of retinoblastoma. Hum. Genet., 52, 1-54.
36. Wiggs, J., Nordenskjold, M., Yandell, D., Rapaport, J., Grondin, V., Janson, M., Werelius, B., Petersen, R., Craft, A., Riedel, K. et al. (1988) Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene. N. Engl. J. Med, 318, 151-157.
37. Yandell, D.W. and Dryja, T.P. (1989) Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am. J. Hum. Genet., 45, 547-555.