Shigeki Uehara, M. D. , Masaki Hashiyada, B. S. , Kazuyo Sato, M. D

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Presentation transcript:

Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss Shigeki Uehara, M.D., Masaki Hashiyada, B.S., Kazuyo Sato, M.D., Yumi Sato, M.D., Keiya Fujimori, M.D., Kunihiro Okamura, M.D. Fertility and Sterility Volume 76, Issue 5, Pages 908-914 (November 2001) DOI: 10.1016/S0015-0282(01)02845-X

Figure 1 Peak patterns resulting from combining two control male DNA samples in known concentration ratios for evaluation of the quantitative potential. (A), mixing ratio 0:100; (B), 10:90; (C), 20:80; (D), 30:70; (E), 40:60; and (F), 50:50. In each panel the X-axis represents molecular sizes that correlate to the number of laser scan times (values showed on the upper portion of each panel are the numbers), and the Y-axis represents the fluorescent intensity of electrophoretic bands. Shadowed peaks are from control subjects. Peaks not shadowed represent size markers confirming that PCR products show adequate molecular sizes (approximately 200 bp). The area sizes of the peaks varied in proportion to and coincided with the ratios of each DNA combination. Uehara. X-chromosome inactivity and infertility. Fertil Steril 2001. Fertility and Sterility 2001 76, 908-914DOI: (10.1016/S0015-0282(01)02845-X)

Figure 2 Representative peak patterns demonstrating preferential XCI determined by single-peak patterns (A–D), preferential XCI determined by two-peak patterns (E), mildly skewed XCI (F), and random XCI (G). In each panel the X-axis represents molecular masses, and the Y-axis represents the fluorescent intensity of electrophoretic bands. The upper panels (M) show peak patterns derived using primers specific for methylated alleles (M-PCR), and the lower panels (U) show patterns derived using primers specific for unmethylated alleles (U-PCR). In the panel pairs (A–D), single peaks (indicated by arrowheads) of different molecular sizes between (M) and (U) panels are observed. The panels (E) show the heterozygous two peaks (arrowheads), which differ considerably in peak area sizes (the ratio of the larger peak size is 91.5% of the total size of the two peaks in M-PCR and 94.6% in U-PCR) and the differences in sizes are opposite in the (M) and (U) panels. In the panel pair (F), the size ratio of the heterozygous two peaks (arrowheads) is less than 90% but more than 70% and the differences of sizes are opposite in the (M) and (U) panels. The panels (G) show the heterozygous two peaks (arrowheads) in which the sizes are similar. Peaks not shadowed represent size markers. Uehara. X-chromosome inactivity and infertility. Fertil Steril 2001. Fertility and Sterility 2001 76, 908-914DOI: (10.1016/S0015-0282(01)02845-X)