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Mol. Hum. Reprod. Advance Access first published online on May 20, 2005
This version published online on May 27, 2005
Molecular Human Reproduction, doi:10.1093/molehr/gah176
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Molecular Human Reproduction © The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org
Received March 3, 2005
Accepted April 12, 2005

Article

Multiple mutation analysis of the cystic fibrosis gene in single cells

Jorge Fernando Sánchez-García 1*, Jordi Benet 1, Cristina Gutiérrez-Mateo 1, José Luís Séculi 2, Eugènia Monrós 2, and Joaquima Navarro 1

1 Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain
2 Hospital Sant Joan de Deu, Barcelona, Spain

* To whom correspondence should be addressed.
Jorge Fernando Sánchez-García, E-mail: jsanchezg{at}servet.uab.es; joaquima.navarro@uab.es


  Abstract

PGD is becoming an alternative to prenatal diagnosis. The combination of IVF techniques with the PCR technology allows for the detection of genetic abnormalities in first polar bodies from oocytes and blastomeres from cleavage-stage embryos. Dealing with a genetic disease with a heterogeneous spectrum of mutations like cystic fibrosis, one of the objectives of centres offering PGD is the application of simple and efficient protocols that allow for the detection of a wide range of mutations with a single procedure. In the present work, 29 normal loci and the 31 most frequent cystic fibrosis transmembrane conductance regulator (CFTR) mutations in Southern Europe could be detected at the same time in single cells applying a modified and improved primer extension preamplification-PCR. Two different Taq polymerases were tested in isolated buccal cells heterozygous for several mutations. The protocol that gave statistically significant better results was also successful in oocytes and their first polar bodies.

Keywords: cystic fibrosis; embryo; first polar body; PEP-PCR; PGD.

This is a new version of this article as the first version had an error in the heading of Table II.


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