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Archives of Medical Research 40 (2009) 1e9 ORIGINAL ARTICLE Preimplantation Genetic Diagnosis for b-Thalassemia Using Single-cell DNA Analysis for Codons 17 and 26 of b-globin Gene Noor Wahidah Mohd Nasri,a A. Rahman A. Jamal,b Nurshaireen Chue Abdullah,c Zainul Rashid Mohd Razi,c and Norfilza Mohd Mokhtara,b aDepartment of Physiology, Faculty of Medicine, bMedical Molecular Biology Institute, and cDepartment of Obstetrics and Gynaecology, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia Received for publication April 24, 2008; accepted October 6, 2008 (ARCMED-D-08-00180). Background. Preimplantation genetic diagnosis (PGD) of monogenic autosomal heredi- tary disorders following assisted conception usually involves the removal of one or two blastomeres from preimplantation embryos. However, the amount of DNA from a single blastomere is insufficient to amplify the region of interest. Hence, the whole genome am- plification (WGA) method is performed prior to amplifying the genes of interest before analysis of DNA material through polymerase chain reaction (PCR). Methods. In the present study we report that WGA from a single blastomere extracted from unwanted preimplantation human embryos (obtained from 10 infertile couples) could positively yield microgram quantities of amplified DNA allowing PCR analysis for codons 17 and 26 of the b-globin gene that cause the b-thalassemia disorder. We de- veloped a rapid and highly specific tech
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