Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (16)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Eftedal, I.
Right arrow Articles by Ziebe, S.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Eftedal, I.
Right arrow Articles by Ziebe, S.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Molecular Human Reproduction, Vol. 7, No. 3, 307-312, March 2001
© 2001 European Society of Human Reproduction and Embryology

Reproductive genetics

Single intragenic microsatellite preimplantation genetic diagnosis for cystic fibrosis provides positive allele identification of all CFTR genotypes for informative couples

I. Eftedal1,3, M. Schwartz2, H. Bendtsen1, A.N. Andersen1 and S. Ziebe1

1 The Fertility Clinic, and 2 Department of Clinical Genetics, Rigshospitalet, University Hospital Copenhagen, Blegdamsvej 9, DK-2100 Copenhagen, Denmark

Abstract

This study is part of a strategy aimed at using fluorescent polymerase chain reaction (PCR) on informative genetic microsatellite markers as a diagnostic tool in preimplantation genetic diagnosis (PGD) of severe monogenic disease. Two couples, both of whom had previously had children who were compound heterozygote for severe cystic fibrosis mutations, were offered PGD using fluorescent PCR of the highly polymorphic cystic fibrosis transmembrane conductance regulator (CFTR) intragenic microsatellite marker IVS17bTA. Cleavage-stage embryo biopsy followed by PCR resulted in transfer of one unaffected carrier embryo for each couple. This approach eliminates the need for single cell multiplex PCR strategies to detect CF compound heterozygotes. It also provides a control of chromosome 7 ploidy in the blastomeres and a selection against allele dropout by positive detection of each CFTR copy of all genotypes in preimplantation embryos from genetically informative families.

allele dropout/CFTR/fluorescent PCR/polymorphic microsatellite marker/preimplantation genetic diagnosis

Notes

3 To whom correspondence should be addressed at the current address: Department of Medical Genetics, University Hospital of Trondheim, N-7006 Trondheim, Norway. E-mail: eftedal{at}medisin.ntnu.no


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Clin. Chem.Home page
A. Elce, A. Boccia, G. Cardillo, S. Giordano, R. Tomaiuolo, G. Paolella, and G. Castaldo
Three Novel CFTR Polymorphic Repeats Improve Segregation Analysis for Cystic Fibrosis
Clin. Chem., July 1, 2009; 55(7): 1372 - 1379.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
V. Goossens, K. Sermon, W. Lissens, M. De Rycke, B. Saerens, A. De Vos, P. Henderix, H. Van de Velde, P. Platteau, A. Van Steirteghem, et al.
Improving clinical preimplantation genetic diagnosis for cystic fibrosis by duplex PCR using two polymorphic markers or one polymorphic marker in combination with the detection of the {Delta}F508 mutation
Mol. Hum. Reprod., September 1, 2003; 9(9): 559 - 567.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
A. Girardet, S. Hamamah, T. Anahory, H. Dechaud, P. Sarda, B. Hedon, J. Demaille, and M. Claustres
First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers
Mol. Hum. Reprod., February 1, 2003; 9(2): 111 - 116.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
C. Vrettou, M. Tzetis, J. Traeger-Synodinos, G. Palmer, and E. Kanavakis
Multiplex sequence variation detection throughout the CFTR gene appropriate for preimplantation genetic diagnosis in populations with heterogeneity of cystic fibrosis mutations
Mol. Hum. Reprod., September 1, 2002; 8(9): 880 - 886.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
S. Chamayou, C. Alecci, C. Ragolia, A. Giambona, S. Siciliano, A. Maggio, M. Fichera, and A. Guglielmino
Successful application of preimplantation genetic diagnosis for {beta}-thalassaemia and sickle cell anaemia in Italy
Hum. Reprod., May 1, 2002; 17(5): 1158 - 1165.
[Abstract] [Full Text] [PDF]

Home page
 J. Mol. Diagn.Home page
A. R. Thornhill and K. Snow
Molecular Diagnostics in Preimplantation Genetic Diagnosis
J. Mol. Diagn., February 1, 2002; 4(1): 11 - 29.
[Full Text] [PDF]

Home page
 NEJMHome page
S. Elias
Preimplantation Genetic Diagnosis by Comparative Genomic Hybridization
N. Engl. J. Med., November 22, 2001; 345(21): 1569 - 1571.
[Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.