Article
Preimplantation genetic diagnosis for beta-thalassaemia using sequencing of single cell PCR products to detect mutations and polymorphic loci.
Molecular human reproduction - 1 Dec 2002
Hussey Nicole D, Davis Tenielle, Hall Jenny R, Barry Michael F, Draper Rogan, Norman Robert J, Rudzki Zbigniew
Abstract excerpt
In order to carry out preimplantation genetic diagnosis (PGD) for beta-thalassaemia, we have applied direct sequencing of single cell PCR products to detect mutations and polymorphic loci within the beta-globin gene. Conventional duplex PCR was used to amplify two regions of the beta-globin gene with an amplification efficiency of 79% for blastomeres. Sequencing data were obtained for 100% of amplified products,...
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