Summary
Using a polymerase chain reaction method, a search for Y-specific DNA sequences was made in samples derived from tissues of a 46,XX true hermaphrodite. We found a sequence of SRY in the ovotestis, skin and leukocytes. Other DNA sequences, which covered the pseudoautosomal boundary region, amelogenin gene and DYZ1 locus of Y-chromosome were not detected. The SRY gene detected in the patient by the polymerase chain reaction was not detected by Southern blot analysis, using the SRY fragment as a probe. These findings suggest that in the patient there is a mosaicism of cells with and without part of the Y chromosome, including the SRY sequence. As the SRY sequence was responsible for the development of the gonadal primordium to the ovotestis, SRY seems essential for gonadal differentiation in testis development.
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Tanoue, A., Nakamura, T., Endo, F. et al. Sex-determining region Y (SRY) in a patient with 46,XX true hermaphroditism. Jap J Human Genet 37, 311–320 (1992). https://doi.org/10.1007/BF01883323
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DOI: https://doi.org/10.1007/BF01883323