Does the Y chromosome have a role in Müllerian aplasia? Maria Sandbacka, M.Sc., Jodie Painter, Ph.D., Minna Puhakka, M.D., Mervi Halttunen, M.D., Hannele Laivuori, M.D., Kristiina Aittomäki, M.D.  Fertility and Sterility  Volume 94, Issue 1, Pages 120-125 (June 2010) DOI: 10.1016/j.fertnstert.2009.02.004 Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Polymerase chain reaction primers used for amplification of the TSPY1 gene (NT_011878, NCBI) according to Plevraki et al. (12). Base positions of the primers (5′–3′) are Y1.5 (9996136–9996155), Y1.6 (9996332–9996352), Y1.7 (9996156–9996176), and Y1.8 (9996311–9996331). The primers were used in three different combinations (A, B, and C). We obtained a TSPY1-specific PCR product using primer combination C. Fertility and Sterility 2010 94, 120-125DOI: (10.1016/j.fertnstert.2009.02.004) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions

Figure 2 Location of the Y chromosomal markers. Fertility and Sterility 2010 94, 120-125DOI: (10.1016/j.fertnstert.2009.02.004) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions

Figure 3 An example of PCR amplification of the TSPY1 gene (1) and seven additional Y fragments (2) in a patient with Müllerian aplasia (P), healthy female control (CF), and healthy male (CM). The TSPY1 gene was amplified with (A) primer combination A; (B) subsequent nested PCR with primer combination B; (C) primer combination C. Lanes D, SH1, and E, SH2, represent positive control fragments located within the pseudoautosomal region. The additional Y-specific fragments are (F) YSA6.7, (G) YSA7.3, (H) GDB:187630, (I) sY1250, (J) YLA14. SM = size marker (100–1,000 bp). Fertility and Sterility 2010 94, 120-125DOI: (10.1016/j.fertnstert.2009.02.004) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions