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Molecular Human Reproduction, Vol. 9, No. 2, 111-116, February 2003
© 2003 European Society of Human Reproduction and Embryology

Article

First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers

Submitted on September 20, 2002; accepted on November 20, 2002

A. Girardet1,4, S. Hamamah1, T. Anahory1, H. Déchaud2, P. Sarda3, B. Hédon2, J. Demaille1 and M. Claustres1

1 Laboratoire de Génétique Moléculaire, Centre Hospitalo-Universitaire (CHU) and Institut Universitaire de Recherche Clinique (IURC), 641 Avenue du Doyen Gaston Giraud, 34093 Montpellier cedex 5, 2 Service de Gynécologie Obstétrique and 3 Service de Génétique Médicale, Hôpital Arnaud de Villeneuve, 371 Avenue du Doyen Gaston Giraud, 34295 Montpellier cedex 5, France

4 To whom correspondence should be addressed. e-mail: girardet{at}igh.cnrs.fr

Retinoblastoma is a malignant intra-ocular tumour of developing retina initiated by inactivation of both alleles of the retinoblastoma susceptibility (RB1) gene. This paper reports the first clinical experience of preimplantation genetic diagnosis (PGD) for hereditary retinoblastoma using two highly polymorphic microsatellite markers RB1.20 and D13S284, located within and close to the RB1 gene respectively. Duplex PCRs were tested on more than 300 single lymphocytes from heterozygous individuals at both loci, in order to test the accuracy and reliability of the single-cell protocol. This procedure requires a nested PCR and the analysis of fluorescently labelled PCR products on an automatic DNA sequencer. Amplification efficiency and allele drop-out rates ranged from 96.7 to 98.4%, and 3.7 to 5.4% respectively. This test was found to be accurate and reliable enough to be applied to the study of human blastomeres. Subsequently, this approach was used in a PGD treatment cycle for a couple who already had a child affected with hereditary retinoblastoma and found to be informative for both microsatellite markers.

Key words: D13S284/preimplantation genetic diagnosis/RB1.20/retinoblastoma


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