Simplified PGD of common determinants of haemoglobin Bart’s hydrops fetalis syndrome using multiplex-microsatellite PCR Wen Wang, Christine H.A. Yap,

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Simplified PGD of common determinants of haemoglobin Bart’s hydrops fetalis syndrome using multiplex-microsatellite PCR Wen Wang, Christine H.A. Yap, Seong Feei Loh, Arnold S.C. Tan, Mui Nee Lim, Ethiraj B. Prasath, Melinda L.H. Chan, Wei Chin Tan, Boran Jiang, Gare Hoon Yeo, Joyce Mathew, Angela Ho, Sherry S.Y. Ho, Peng Cheang Wong, Mahesh A. Choolani, Samuel S. Chong Reproductive BioMedicine Online Volume 21, Issue 5, Pages 642-648 (November 2010) DOI: 10.1016/j.rbmo.2010.06.021 Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions

Figure 1 Schematic illustration of the α-globin gene cluster, indicating the extents of five common deletional determinants of Hb Bart’s hydrops fetalis syndrome. The locations of the microsatellite markers 16PTEL05 and 16PTEL06 are indicated. Locations of the X, Y and Z sequence homology boxes and hypervariable regions (HVR) are also shown. ∗Also known as αD (previously named φα2). Reproductive BioMedicine Online 2010 21, 642-648DOI: (10.1016/j.rbmo.2010.06.021) Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions

Figure 2 Microsatellite electropherograms from (A) PGD case 1 and (B) case 4 after PCR amplification, showing the peak patterns for 16PTEL05, 16PTEL06 and D7S2847. The maternal and paternal electropherograms were generated from PCR-amplified single lymphocytes. Examples of normal (αα/αα), carrier (αα/- -SEA or αα/- -FIL) and affected (- -SEA/- -SEA) genotyping results from embryo blastomeres are shown. Allele fragment sizes are indicated in base pairs. Reproductive BioMedicine Online 2010 21, 642-648DOI: (10.1016/j.rbmo.2010.06.021) Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions