Fig. 5

Analysis of the patterns of X chromosome inactivation the size of the fluorescence peak for the internal reference gene B2M was about 296 bp, and those at other positions represented specific fluorescence peaks of the AR gene. His father’s X chromosome was used as the control for complete digestion. The AR gene has a single one before digestion and disappears after digestion. Before and after digestion, the bimodal ratio of the AR gene on the X chromosome derived from the mother was about 50%, which suggested random inactivation. In the patient, the ratio valve of X inactivation differed with the type of tissues, e.g., 100%, 78%, and 80% for the blood, oral mucosa, and urethral epithelial cells, respectively. Compared with the STR loci of her parents, the duplicated X chromosome derived from her father was completely inactivated in the peripheral blood and partially in her oral mucosa and urethral epithelial cells. Undigested: before digestion, Digested: after digestion; WBC: white blood cells, OMC: oral epithelial cells, UEC: urethral epithelial cells