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Fig. 5 | Molecular Cytogenetics

Fig. 5

From: Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene

Fig. 5

The X chromosome inactivation results of the 46,XX (SRY-) male patient. The ordinate and abscissa represent fluorescence intensity and fragment length. The figures near the fluorescence peaks indicate the height of fluorescence peaks. The black arrow indicates the amplified products of the reference gene. After complete digestion, there is no amplified products peak (as shown below). The red and green arrows indicate the two alleles of the AR gene in the X chromosomes. X chromosome inactivation ratio was calculated according to the formula (d1/u1)/(d1/u1 + d2/u2)*100%. This patient's X chromosome inactivation ratio was about 75%, which was non-random. d1: the height of the higher peak after enzyme digestion, u1: the height of the undigested peak, which corresponds to d1; d2: the height of the shorter peak after digestion; u2: the height of the undigested peak, which corresponds to d2

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